Researchers identify tools to identify patients at risk for ASD

LOS ANGELES, July 17 (Xinhua) -- A tool intended to detect signs of autism in high-risk infants can be used to help identify and treat patients with tuberous sclerosis complex (TSC), a genetic disorder, according to a new study published online in Pediatric Neurology.

"Single gene syndromes with a high prevalence of neurodevelopmental disorders, such as TSC, provide unique opportunities to investigate the underlying biology and identify potential treatments for ASD," Jamie Capal, MD, lead author of the study said in a press release.

ASD (Autism Spectrum Disorders) is a group of disabilities that affect the communication, behavior and social interaction and interests that is common among children.

"These disorders provide populations in which ASD symptoms can be identified and measured before the formal diagnosis of ASD is made," said the neurodevelopmental and autism specialist in the Division of Neurology at Cincinnati Children's Hospital Medical Center.

Researchers evaluated 79 children up to 24 months old with TSC, which causes malformations and tumors in the brain and other vital organs and has a high prevalence of ASD.

These children with TSC are part of a larger group of children enrolled in the TSC Autism Center of Excellence Research Network (TACERN), a multicenter study to identify biomarkers of ASD.

By using the Autism Observation Scale for Infants (AOSI) at 12 months of age followed by the Autism Diagnostic Observation Schedule-2 (ADOS-2), a diagnostic tool, at 24 months, researchers find that the ASD group had a mean AOSI total score at 12 months significantly higher than the non-ASD group, according to the study, which was supported by grants from the National Institute of Neurological Disorders and Stroke of the U.S. National Institutes of Health

The AOSI was designed primarily as a research tool to identify early signs of autism in high-risk infants who have an older sibling with autism.

The study demonstrates that "it is a useful clinical tool in determining which infants with TSC are at increased risk of developing ASD," Capal said.