Cambridge, MA (November 28, 2012)--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."
The average recurrence risk for siblings of children affected with ASD has been reported as 18.7%, a 20-fold increase compared to the prevalence of ASD in the general population, suggesting a strong genetic component to the cause of ASD. However, despite the increased risk to siblings, the earlier identification and diagnosis of those siblings at highest risk remains a challenge. The survey was limited to parents living in the United States with at least one child diagnosed with ASD. The survey also focused on parents who had both an older child with ASD and undiagnosed siblings under the age of 48 months.
Among the key findings:
IntegraGen SA of Evry, France-based IntegraGen (ALINT.PA) is a biotechnology company dedicated to molecular biomarker discovery. The Company's wholly-owned US subsidiary is located in Cambridge, Massachusetts. The Company's goal is the development of molecular diagnostic products and services that provide clinicians with new tools to personalize diagnosis, treatment and therapy for complex debilitating diseases. Its Genetic Services Business provides state-of-the-art genotyping services to the research community. Focusing its efforts on the early identification of children at risk for autism spectrum disorder (ASD), IntegraGen has made inroads in identifying a number of common genetic variants associated with ASD. The Company has recently launched the ARISk Test in the United States providing a genetic screening tool for the early identification of children at risk for ASD.
About the ARISk® Test:
The ARISk Test is a laboratory developed test that is only available through licensed medical practitioners. DNA samples are collected via a simple cheek swab and sent to a CLIA-certified, CAP-accredited lab where the genetic markers are detected via state-of-the-art genomic testing instruments. Results are returned to the ordering physician two- to four-weeks after the sample is received. Children who are identified as having a significantly higher risk of developing ASD have a two to four fold increased risk of autism compared to the average sibling of a child with autism. It is recommended that children who are identified as having a higher risk of autism be referred to an autism specialists for a diagnostic work-up and, if diagnosed, early behavioral intervention.
About Clinical Pediatrics (CLP):
Clinical Pediatrics (CLP), a peer-reviewed monthly journal, is a must read for the busy pediatrician. CLP contains state-of-the-art, accurate, concise and down-to earth information on practical, everyday child care topics whether they are clinical, scientific, behavioral, educational, or ethical. This journal is a member of the Committee on Publication Ethics (COPE). Impact Factor: 1.151. Ranked:74 out of 113 in Pediatrics. Source: 2011 Journal Citation Reports® (Thomson Reuters, 2012)
SAGE is a leading international publisher of journals, books, and electronic media for academic, educational, and professional markets. Since 1965, SAGE has helped inform and educate a global community of scholars, practitioners, researchers, and students spanning a wide range of subject areas including business, humanities, social sciences, and science, technology, and medicine. An independent company, SAGE has principal offices in Los Angeles, London, New Delhi, Singapore and Washington DC. www.sagepublications.com
From: IntegraGen Cambridge, MA
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