Cason McKee was diagnosed with autism when he was 3 years old.

Both of his parents worked with autistic children in the Texas school system, so they saw it coming.

Early on, when we first started noticing a difference in him, he was a typical 18-month old, said Shannon McKee, Casons mother. But between 18 months and 2 years, he started to lose his language and his interest in language. It happened gradually.

At Casons second birthday party, McKee realized that her son wasnt engaging with his friends. He doesnt even carethat his friends are here, she thought.

A light bulb went off in my head, she said.

::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::Looking for the latest on the CORONAVIRUS? Read our daily updates HERE.::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::

Casons diagnosis of ASD (autism spectrum disorder) unleashed a host of questions for Shannon and Michael McKee, who began searching for the best therapies and pro- grams for their son. Once they got a grasp on their own situation, it became increasingly important for them to help other families who had received an ASD diagnosis. One of the best ways to do that, they realized, was to participate in research that could unlock some of the genetic mysteries surrounding the disorder, which affects communication and social interaction.

In 2016, the McKees were among the first families to enroll in the national SPARK for Autism study, a landmark project that aims to accelerate the pace of autism research and answer myriad genetic questions about the disorder.

More specifically, that 50,000 actually refers to triosto an individual with autism and both biological parents, Kochel explained. To date, SPARK has enrolled close to 23,000 families in a database that allows investigators to search for and identify genetic trends and similarities.

Its open to everyone, Kochel said. Basically, families enroll online. It takes about 20 to 30 minutes. They have the option to consent to providing a genetic sample.

For families who consent, a saliva kit is mailed to their home, with instructions for its use and return. Families also consent to whether or not they want to see the results of a genetic finding, if one is made.

Today, there are over 1,000 genes that have been associated with autism, and part of what SPARK is doing is to help identify more genetic causes of autism, Kochel said. We do know that autism is largely caused by genetic factors, yet when you go to get a clinical genetic test today, only a fraction of kids come back with a finding. But we still believe that theres more there, genetically, and were look- ing for it. Its just going to take some time.

SPARK hopes to identify small groups of people diagnosed with ASD who have the same genetic differencesdifferences researchers didnt know about before.

The study is a way for us to help identify those people and get them together and think about what would be valuable to learn about this particular group, Kochel said. We call it a genet- ics first approach. We might then have next-step studies that would convene those folks and say: You all have the same genetic difference. Can we work with you to see what else is similar with you? It might be certain medical conditions or other psychiatric diagnoses, things like that.

Excerpt from:
Unlocking the Genetics of Autism Spectrum Disorder - TMC News - Texas Medical Center News