Autism spectrum disorders (ASD) are among the most common forms of developmental disability with a prevalence of 1 in 88 children and a sibling recurrence risk estimated at 18.7%. While multiple studies have shown that early intervention leads to a significantly improved long-term outcome, a significant time lag remains between the age when a difference in development is first suspected and the age of ASD diagnosis. Numerous studies have shown that ASD has a strong genetic component; however genetic tests currently available are primarily used for etiologic diagnostic purposes. Recent data provide evidence toward utility of a newly developed genetic risk tool to identify children with an increased risk of ASD among siblings of affected patients.
Objectives:
Our objectives were to: (1) understand parental experience with the ASD diagnosis process for their children, (2) obtain parental opinion regarding the potential use of a genetic risk assessment test for ASD.
Methods:
A self-administered survey was conducted using an internet-based questionnaire. Two versions of the survey were conducted consecutively. The first was an English language survey limited to U.S. residents who were parents or guardians of one or more children with ASD. The second survey was a French language survey for parents or guardians from France or other French speaking countries with one or more children with ASD. Responses to the U.S. survey were obtained between February 2012 and March 2012. The French survey was conducted from June 2012 to July 2012.
Results:
A total of 156 participants completed the U.S. survey and 554 participants (464 from France, 40 from Canada and 41 from other countries) completed the French survey. The mean time from a suspected difference in development to an ASD diagnosis was 22 months in the U.S. survey and 29 months in the French survey (p<10-4). The mean age of diagnosis was 57 months for both surveys. In each case, parents indicated delay in diagnosis was primarily due to a “wait and see” approach by the child’s pediatrician or a delay in seeing a specialist.
In both surveys, the majority of parents (69%) indicated they would have pursued testing if a genetic test had been available which could determine if their child was at increased risk of developing an ASD. Similarly, 69% of parents from the French survey (n=106) and 80% of parents from the U.S. survey (n=25) with a younger undiagnosed child under 48 months of age indicated that they would want their younger child tested if a genetic risk assessment test were available, even if it could not confirm the diagnosis. Parents cited earlier access to evaluation and intervention, closer monitoring, and lessening of anxiety as reasons for wanting their child/children tested.
Conclusions:
Delayed diagnosis of ASD remains an issue even when a child is suspected of having a difference in development at an early age. The results of this survey indicate that the majority of parents would have been interested in a genetic risk assessment test for their younger children.
See more of: Clinical Phenotype
See more of: Symptoms, Diagnosis & Phenotype