Majority of parents with autistic child show interest in having genetic tests

Published on November 29, 2012 at 9:57 AM · No Comments

The vast majority (80 percent) of parents with at least one child with Autism Spectrum Disorder (ASD) would pursue genetic testing if a test were available that could identify risk in a younger sibling, citing the desire for earlier identification of children at risk, earlier evaluation and intervention, closer monitoring and lessened anxiety. The findings were reported in "Parental Interest in a Genetic Risk Assessment Test for Autism Spectrum Disorders," a survey published online today in the journal Clinical Pediatrics. The survey of 162 parents of children with ASD also reported an almost three-year lag from the time ASD was initially suspected until a child received a diagnosis --even in families with a previously diagnosed child.

The internet-based survey was sponsored by IntegraGen, Inc. and conducted during February and March 2012. Earlier this year, the CDC announced that ASD prevalence in the United States has increased to one in 88 children, and even with increased awareness, the average age of ASD diagnosis is greater than four years.

"The majority of parents surveyed said they would be interested in having their child tested if a genetic test was available that could identify ASD risk--even if it could not confirm a diagnosis-in order to facilitate an earlier diagnosis and access to therapies known to make a positive impact on their child's development," stated the study's primary investigator Elizabeth Couchon, M.S., L.G.C., a licensed genetic counselor and medical sciences liaison for IntegraGen, Inc., which recently launched the ARISk- Autism Risk Assessment Test. This multi-SNP (Single Nucleotide Polymorphism), gender-specific genetic screening test looks at 65 genetic markers associated with ASD to assess the risk of autism in children under the age of 36 months who have an older sibling with ASD, paving the way for early diagnosis, early intervention and better outcomes "Our goal was to better understand parents' experiences with the ASD diagnostic process, assess their anxiety levels about the risk of ASD recurring in their family, and gauge attitudes regarding the use of a genetic risk assessment test to evaluate risk for ASD in younger siblings," she added. "The survey found that families experienced a significant delay in the time it took to get an ASD diagnosis when they realized something was wrong, even when they had an older child with ASD.

"Parents who have one child with ASD are often anxious about younger siblings since we know there is a genetic component and that ASD runs in families," says national autism expert Antonio Hardan, M.D., a member of IntegraGen's advisory board and one of the study's co-authors. "These parents often know the signs and symptoms of ASD, and typically recognize issues with their younger children's development. Many also know earlier diagnosis and intervention leads to better outcomes, so the availability of an early screening tool that could aid with early diagnosis would relieve some of their anxiety."

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