Genetic test may spot raised autism risk

May 16, 2012 By Barbara Bronson Gray, HealthDay Reporter
Genetic test may spot raised autism risk
Geared toward siblings of kids with the disorder, but experts question precision of the exam.

(HealthDay) -- Researchers report that a new DNA test may be able to spot an increased risk of autism in children as young as 6 months old.

The genetic screen, called ARISk, is designed for babies and toddlers who have a sibling with , a characterized by impaired social interaction and . The new test found 57 key gene variations that were associated with the condition in more than 1,000 families.

"This is the first time such a huge study has been performed on individuals with autism, discovering what other studies statistically could not detect," explained study author Dr. Francois Liebaert, vice president of research and development at IntegraGen SA, the French company that developed the test. The research team looked at a wider combination of gene variations than previous research has, he noted.

Liebaert pointed out that autism is considered "genetically complicated" because there is no single chromosome or gene that is responsible for the development of the disease.

In theory, the test could help speed up assessment and intervention for at-risk siblings, and potentially improve long-term outcomes. However, not all autism experts are convinced that the test results are reliable enough to form the basis for .

Studies have shown a strong for autism. Siblings of children with autism are believed to be at greater risk; in the study, boy siblings had a 26 percent greater risk while girl siblings had a 10 percent greater risk of developing some form of the disease.

The U.S. estimates that one child in 88 is diagnosed with autism, Asperger's syndrome or a related by the age of 8.

The research behind the development of the screening test was to be presented Wednesday during a news conference at the International Meeting for in Toronto. The study involved about 1,100 families with more than one child diagnosed with some form of autism, including nearly 2,000 siblings with autism and 600 siblings who did not show signs of the disorder.

Children found to be at greater risk would be referred to an autism specialist for further evaluation and behavioral intervention. Those at lower risk would still be monitored for signs of the disease.

Dr. Andrew Adesman, head of developmental and behavioral pediatrics at Steven and Alexandra Cohen Children's Medical Center of New York, in New Hyde Park, said he has concerns about the value of the test: "Families looking for potential insight may get falsely worrisome or falsely reassuring information," he said.

Adesman noted that data from the study showed a significant number of children testing positive for autism will end up not having the disorder, and a significant number of children with a non-worrisome test will also end up having the disorder.

Clinical assessment will be necessary, no matter how the test turns out, he added. "If a child clinically looks good but has a bad test, all you'd do is watch the child more closely anyway," he said.

ARisk is only available through physicians. DNA samples are collected with a cheek swab and sent to a lab. The results are returned to the doctor two to four weeks later.

Because the test involves swabbing a cheek, it would not be possible to use this technology before birth to determine whether a fetus has a higher risk of autism, Liebaert noted.

The list price of the test is $2,900, but parents may pay less depending on their insurance coverage. IntegraGen has a program to provide the test to those with no insurance or with limited resources, said Larry Yost, the firm's general manager.

Liebaert is conducting research now to determine how this genetic assessment might apply to children who don't have a sibling with autism. The test might be used, for example, if symptoms of autism were suspected. He said he expects to compile early results later this year.

Because this study was presented at a medical meeting, the data and conclusions should be viewed as preliminary until published in a peer-reviewed journal.

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

More information: Go to the National Autism Association for more on autism.

Related Stories

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.

Study shows delays in siblings of children with autism spectrum disorders

May 16, 2012
A new University of Miami (UM) study shows that one in three children who have an older sibling with an Autism Related Disorder (ASD) fall into a group characterized by higher levels of autism-related behaviors or lower levels ...

Researchers across North America team up to find genetic markers for autism

April 18, 2012
A medical researcher at the University of Alberta is working with scientists from across North America to find out if there are genetic markers for autism. More than 15 scientists will examine DNA samples from children with ...

Risk of autism among younger siblings of a child with autism much greater than previously reported

August 15, 2011
Autism Speaks, the world's largest autism science and advocacy organization, joined in announcing significant findings from the largest known study of younger siblings of children who had a verified diagnosis of autism spectrum ...

Study explores link between smoking during pregnancy, autism

April 26, 2012
Women who smoke in pregnancy may be more likely to have a child with high-functioning autism, such as Asperger's Disorder, according to preliminary findings from a study by researchers involved in the U.S. autism surveillance ...

Recommended for you

NeuroNext biomarker study explores natural history of infantile-onset SMA

January 9, 2018
Research led by The Ohio State University Wexner Medical Center to define the natural history of infantile-onset spinal muscular atrophy (SMA) has been "critical" to accelerate the development of effective therapies and hasten ...

No link between childhood lead levels, later criminality

December 27, 2017
(HealthDay)— Exposure to higher levels of lead during early childhood can affect neurological development—but does that mean affected kids are doomed to delinquency?

Early puberty in girls may take mental health toll

December 26, 2017
(HealthDay)—A girl who gets her first menstrual period early in life—possibly as young as 7—has a greater risk for developing depression and antisocial behaviors that last at least into her 20s, a new study suggests.

Technology not taking over children's lives despite screen-time increase

December 21, 2017
With children spending increasing amounts of time on screen-based devices, there is a common perception that technology is taking over their lives, to the detriment and exclusion of other activities. However, new Oxford University ...

Higher blood sugar in early pregnancy raises baby's heart-defect risk

December 15, 2017
Higher blood sugar early in pregnancy raises the baby's risk of a congenital heart defect, even among mothers who do not have diabetes, according to a study led by researchers at the Stanford University School of Medicine.

Injuries from window blinds send two children to the emergency department every day

December 11, 2017
Most homes have them. They help keep our rooms warm or cold and even add a pop of color to tie the décor together. But window blinds can cause serious injuries or even death to young children. A new study from the 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.