NARSAD-Funded Research Makes Autism Discovery

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One summer after college I worked at a day camp for elementary school-age children. I was teaching the kindergarten and first grade students. Although more than teaching, I refereed games, chaperoned field trips around town and served as the arbiter of a fair share of disputes. One of the first grade boys had Asperger’s syndrome. He found it difficult to connect and play with the other children. He was a good big brother to his little sister – also in my class – but struggled to fit in. His challenge, and the challenge of other children diagnosed with an autism spectrum disorder (ASD) can go on to shape their entire lives.

Earlier this month, NARSAD Independent Investigator John B. Vincent, Ph.D., reported research that makes a new genetic discovery that will facilitate the early detection of autism. Dr. Vincent found that a male-linked gene mutation may disrupt crucial developmental processes, contributing to the onset of ASD.

“We believe that the PTCHD1 gene has a role in a neurobiological pathway that delivers information to cells during brain development – this specific mutation may disrupt crucial developmental processes, contributing to the onset of autism,” Dr. Vincent said in an article on the Science Daily website. “Our discovery will facilitate early detection, which will, in turn, increase the likelihood of successful interventions.”

Research shows that early diagnosis and intervention – age-appropriate, effective therapy – for children with autism can lead to raised IQ levels, and improved language skills and behavior. A study at the University of Washington followed 48 children ages 18 to 30 months for two years. All children showed improvement after therapy during that time.

Autism is a troubling brain developmental disorder for children and their families. A few years ago – at a different job – I worked a conference for families with autistic children. I was moved by parents’ stories of challenge and heartache. Over and over they shared their day-to-day regimens of treatment, school, doctor’s visits, therapy. They loved their children immensely, but were strained by the responsibility to care for their children, along with caring for themselves. For many it was difficult to get away for a day or two to even attend the conference. They searched for the reasons their children had developed autism and desired better treatments.

Brain & Behavior Research Foundation continues to lead the search to discover the causes, develop treatments and identify cures for the full range of brain and behavior disorders, from depression and schizophrenia to obsessive-compulsive disorder and autism. Support breakthrough research today.

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Please note that researchers cannot give specific recommendations or advice about treatment; diagnosis and treatment are complex and highly individualized processes that require comprehensive face-to- face assessment. Please visit our "Ask an Expert" section to see a list of Q & A with NARSAD Grantees.
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