Cleveland Clinic Children's Hospital launches study to genetically test for autism

February 29, 2012

Cleveland Clinic Children's Hospital has launched a study to determine whether genetic markers can be used to help identify children who are at risk of developing autism.

The study is designed to confirm the predictive value of established genetic markers and is a follow-up to retrospective studies that have been completed.

Thomas Frazier, Ph.D., of Cleveland Clinic Children's Hospital Center for , is the principle investigator for the study being funded by IntegraGen, a French biomedical company. The study will enroll 600 children over the next two years.

"This is the first time anyone has done a prospective study on a combination of to examine whether a genetic is helpful in identifying children with autism," Dr. Frazier said. "Autism is currently assessed by looking at behavioral characteristics of children. If we can develop a genetic test to assist in the earlier diagnosis of autism, we can provide beneficial treatment that leads to improved outcomes more quickly."

This study launches as the autism community prepares for the American Psychiatric Association's publication of the fifth edition of (DSM-5) in May 2013. Many experts expect the DSM will have a huge impact on by narrowing the criteria for autism, eliminating Asperger syndrome and PDD-NOS (Pervasive Developmental Disorder-Not Otherwise Specified).

"A genetic has the potential to ensure that high-functioning individuals, who are part of the autism spectrum, continue to be appropriately identified and receive necessary treatments," Dr. Frazier said.

Dr. Frazier's team will also study whether genetic changes may be associated with attention deficit/hyperactivity disorder. The study will enroll 300 children between the ages of 1 and 12 who are suspected to have an autism spectrum disorder, 75 children diagnosed with ADHD, and 225 children who do not have developmental disorders.

A cheek swab inside the mouth will be used to collect DNA from each study participant. Additionally, parents or caregivers will be asked to complete standardized questionnaires. Parents interested in finding out more information or enrolling their child in the study can contact the Cleveland Clinic Children's Hospital Center for Autism's Research Coordinator at (216) 448-6493.

The genetic testing will be done in the Genomic Medicine Institute at Cleveland Clinic's Lerner Research Institute. The study is being supported by a clinical research grant from IntegraGen, the company that developed the genetic panel being evaluated.

Explore further: DSM-5 proposed criteria for autism spectrum disorder diagnosis

Related Stories

DSM-5 proposed criteria for autism spectrum disorder diagnosis

January 23, 2012
(Medical Xpress) -- The American Psychiatric Association (APA) has proposed new diagnostic criteria for the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) for autism. While final decisions ...

Study finds wide variation in best-estimate clinical diagnosis of autism spectrum disorders

November 7, 2011
In a study conducted at 12 university-based research sites, there was wide variation in how best-estimate clinical diagnoses within the autism spectrum were assigned to individual children, according to a study being published ...

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

October 4, 2011
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 ...

Higher risk of autism among certain immigrant groups

February 23, 2012
A major register study from Karolinska Institutet shows that children born to certain groups of immigrants had an increased risk of developing autism with intellectual disability. The study includes all children in Stockholm ...

Recommended for you

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

Females with autism show greater difficulty with day-to-day tasks than male counterparts

July 14, 2017
Women and girls with autism may face greater challenges with real world planning, organization and other daily living skills, according to a study published in the journal Autism Research.

Researchers investigate possible link between carnitine deficiency and autism

July 13, 2017
Researchers are always looking for new clues to the causes of autism, with special emphasis on prevention or treatment. At Baylor College of Medicine, Dr. Arthur Beaudet has been following clinical and genetic clues in patients ...

How children look at mom's face is influenced by genetic factors and altered in autism

July 12, 2017
New research has uncovered compelling evidence that genetics plays a major role in how children look at the world and whether they have a preference for gazing at people's eyes and faces or at objects.

Oxytocin improves social abilities in some kids with autism, study finds

July 10, 2017
Children with autism showed improved social behavior when treated with oxytocin, a hormone linked to social abilities, according to a new study by researchers at the Stanford University School of Medicine. Children with low ...

Possible early diagnosis of autism spectrum disorder

June 29, 2017
Measuring a set of proteins in the blood may enable earlier diagnosis of autism spectrum disorder (ASD), according to a study from the Peter O'Donnell Jr. Brain Institute at UT Southwestern Medical Center.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.