Featured Research

from universities, journals, and other organizations

New findings validate the accuracy of autism diagnosis in children with Down syndrome

Date:
October 4, 2011
Source:
Kennedy Krieger Institute
Summary:
New findings from a 16-year study confirm that the Diagnostic and Statistic Manual of Mental Disorders, the gold-standard for the classification of mental health conditions, can be used to accurately identify autism spectrum disorders in children with Down syndrome, according to new research.

New findings from a 16-year study confirm that the Diagnostic and Statistic 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, despite estimates that 10 to 15 percent of children with Down syndrome are affected by both disorders. 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.

"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."

Published in the Journal of Intellectual Disability Research [Epub ahead of print], the study confirmed the unbiased validity of the DSM for identifying autism in children with Down syndrome by comparing diagnoses based on its criteria with scores from a separate tool, the Aberrant Behavior Checklist -- Community (ABC-C).

The ABC-C is one the most commonly used tools for evaluating behavioral problems in individuals with intellectual disabilities and has no relation to the DSM. The 58-item, parent-completed, clinician-interpreted checklist assesses the severity of non-productive behaviors.

"The behavioral diagnosis of autism will probably always be more complicated than a simple blood test," says Dr. 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."

Researchers used the ABC-C scores to confirm or deny initial DSM-based autism diagnoses in 293 patients from the Institute's Down Syndrome Clinic. The researchers were able to accurately distinguish three diagnostic groups:

  • Down syndrome (DS): children with DS, but no significant behavioral problems that would warrant the diagnosis of a coexisting mental health condition
  • DS + ASD: children with DS and autism spectrum disorders
  • DS + Disruptive behavior disorder (DBD): children with DS and DBD, characterized by temper tantrums, physical aggression, excessive argumentativeness, stealing and other forms of defiance or resistance to authority

"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."

The findings 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. Kaufmann says that the research also demonstrates that the ABC-C can be used as a supportive resource for making the diagnosis of ASD and other behavioral problems in Down syndrome. His hope is 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.

Researchers also note an unexpected finding: Down syndrome patients with severe autism behaviors were much more likely to have experienced a later onset of ASD. More studies are needed to determine the cause of this phenomenon, which may provide researchers a glimpse into the genetic associations behind autism and Down syndrome. Support for this study was provided by affected families through individual gifts and, in part, by Autism Speaks.


Story Source:

The above story is based on materials provided by Kennedy Krieger Institute. Note: Materials may be edited for content and length.


Journal Reference:

  1. N. Y. Ji, G. T. Capone, W. E. Kaufmann. Autism spectrum disorder in Down syndrome: cluster analysis of Aberrant Behaviour Checklist data supports diagnosis. Journal of Intellectual Disability Research, 2011; DOI: 10.1111/j.1365-2788.2011.01465.x

Cite This Page:

Kennedy Krieger Institute. "New findings validate the accuracy of autism diagnosis in children with Down syndrome." ScienceDaily. ScienceDaily, 4 October 2011. <www.sciencedaily.com/releases/2011/10/111004121307.htm>.
Kennedy Krieger Institute. (2011, October 4). New findings validate the accuracy of autism diagnosis in children with Down syndrome. ScienceDaily. Retrieved September 23, 2014 from www.sciencedaily.com/releases/2011/10/111004121307.htm
Kennedy Krieger Institute. "New findings validate the accuracy of autism diagnosis in children with Down syndrome." ScienceDaily. www.sciencedaily.com/releases/2011/10/111004121307.htm (accessed September 23, 2014).

Share This



More Mind & Brain News

Tuesday, September 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Could Grief Affect The Immune Systems Of Senior Citizens?

Could Grief Affect The Immune Systems Of Senior Citizens?

Newsy (Sep. 19, 2014) The study found elderly people are much more likely to become susceptible to infection than younger adults going though a similar situation. Video provided by Newsy
Powered by NewsLook.com
Food Addiction Might Be Caused By PTSD

Food Addiction Might Be Caused By PTSD

Newsy (Sep. 18, 2014) New research shows that women who suffer from PTSD are three times more likely to develop a food addiction. Video provided by Newsy
Powered by NewsLook.com
Corporal Punishment on Decline, Debate Renews

Corporal Punishment on Decline, Debate Renews

AP (Sep. 16, 2014) Corporal punishment in the United States is on the decline, but there is renewed debate over its use after Minnesota Vikings running back Adrian Peterson was charged with child abuse. (Sept. 16) Video provided by AP
Powered by NewsLook.com
FDA Eyes Skin Shocks Used at Mass. School

FDA Eyes Skin Shocks Used at Mass. School

AP (Sep. 15, 2014) The FDA is considering whether to ban devices used by the Judge Rotenberg Educational Center in Canton, Massachusetts, the only place in the country known to use electrical skin shocks as aversive conditioning for aggressive patients. (Sept. 15) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins