Mount Sinai experts to educate families on identifying signs, symptoms of ASD

Mar 30 2013

The latest report from the US Centers for Disease Control and Prevention estimates that one out of 50 school-aged children has an autism spectrum disorder (ASD). Researchers have made great strides in identifying potential causes and treatments for ASD, and experts from the Seaver Autism Center at Mount Sinai are available to educate families on what these advancements are and what signs and symptoms they should watch out for, in honor of Autism Awareness Month.

Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center and Professor of Psychiatry, Genetics and Genomic Sciences, and Neuroscience, says, "Early diagnosis is absolutely critical, because the earlier we diagnose an autism spectrum disorder, the earlier we can begin treatment. If you have concerns about your child, you should see a specialist for a more thorough evaluation."

The American Academy of Pediatrics recommends that all children be screened for autism at their 18- and 24-month well-baby check-ups. The most common early symptoms, which present as early as 18 months, include: fleeting eye contact; limited gesturing (pointing, waving good-bye); limited pretend play; difficulty reading nonverbal cues; difficulty taking others' perspectives; odd language; repetitive motor and object play; difficulties with changes in environment/routine.

Clinicians use behavioral and learning assessment tools to diagnose autism. There is currently no medical test to diagnose ASD. The current treatment is intensive, comprehensive behavioral training starting in early childhood.

The Seaver Autism Center is leading an international effort to find the genetic causes and treatments for ASD. Dr. Buxbaum established the Autism Sequencing Consortium (ASC), an international group of researchers whose goal is to facilitate the collection and analysis of whole exome sequence data (the segments of DNA that code for specific proteins) from as many as 10,000 individuals with autism and 30,000 individuals overall, with the eventual aim of contributing to improved treatments.

Research from the Seaver Autism Center:
--Men who have children at an older age are more likely to have grandchildren with autism
An international team of researchers, including Avi Reichenberg, PhD, of the Seaver Autism Center at The Mount Sinai Medical Center, have shown for the first time that risk factors for autism may accumulate over generations. The study found that men who had a daughter when they were 50 or older were 1.79 times more likely to have a grandchild with autism than men who had children when they were 20-24.

--Mutations in Multiple Genes Linked to Autism Spectrum Disorders
Dr. Buxbaum along with ASC investigators discovered multiple new genes associated with autism. The studies provide new insights into important genetic changes and the many biological pathways that lead to ASD, and provide new therapeutic targets for the disease. One example of how gene discovery leads to new treatments is found below.
--Clinical Study Evaluates New Drug in Subtype of Autism
Researchers at Mount Sinai led by Alex Kolevzon, MD, Clinical Director of the Seaver Autism Center, are conducting a pilot clinical trial to evaluate insulin-like growth factor (IGF-1) in children who have SHANK3 deficiency (also known as 22q13 Deletion Syndrome or Phelan-McDermid Syndrome), a known cause of autism. IGF-1 is an FDA-approved, commercially available compound that is known to promote neuronal cell survival as well as synaptic maturation and plasticity.