In the three years since her son Diego was given a diagnosis of autism at age 2, Carmen Aguilar has made countless contributions to research on this perplexing disorder.
She has donated all manner of biological samples and agreed to keep journals of everything she’s eaten, inhaled or rubbed on her skin. Researchers attended the birth of her second son, Emilio, looking on as she pushed, leaving with Tupperware containers full of tissue samples, the placenta and the baby’s first stool.
Now the family is in yet another study, part of an effort by a network of scientists across North America to look for signs of autism as early as 6 months. (Now, the condition cannot be diagnosed reliably before age 2.) And here at the MIND Institute at the University of California Davis Medical Center, researchers are watching babies like Emilio in a pioneering effort to determine whether they can benefit from specific treatments.
So when Emilio did show signs of autism risk at his 6-month evaluation — not making eye contact, not smiling at people, not babbling, showing unusual interest in objects — his parents eagerly accepted an offer to enroll him in a treatment program called Infant Start.
The treatment is based on a daily therapy, the Early Start Denver Model, that is based on games and pretend play. It has been shown in randomized trials to significantly improve I.Q., language and social skills in toddlers with autism, and researchers say it has even greater potential if it can be started earlier.
Time reports:
Too many tight connections in frontal-lobe circuits and too few long-distance links between the frontal lobe and the rest of the brain may cause some of the language, social problems and repetitive behavior seen in autism spectrum disorders, according to a new study published in Science Translational Medicine. The research links a variant of the CNTNAP2 gene to this particular type of rewiring in the brain.
The new findings, which used functional magnetic resonance imaging (fMRI) to measure the types and strength of connections between brain regions, could provide autism experts with some important clues for early intervention and treatment. (More on Time.com: Special Report: Kids and Mental Health)
"I think it is quite a beautiful study," says Kamila Markram, director of the Autism Project at the Brain Mind Institute of the École Polytechnique Fédérale de Lausanne in Switzerland, who was not associated with the current research. "What's new is that it brings the genetic data together with the functional brain activity and that is usually not done. Either people look at gene expression or they look at functional brain activity. To bring them together and relate them to say, 'That particular gene is responsible for the different connection pattern that one observes,' that's a unique research area and that's the beauty of the study."
At The Age of Autism, Katie Wright says:
... I want all autism families to know that the leaders of Department of Defense’s autism research program really get it. They are our allies in the fight for our children, rather than just another obstacle. The DOD strongly believes in stakeholder involvement.
The DoD actually WANTS parents’ opinion regarding their research choices. They INVITE a diverse body of Moms and Dads in sit on their grant committee panels. The DoD ENCOURAGES parents to fully participate in all scientific, clinical and treatment discussions. DoD EMPOWERS each stakeholder as a fully voting members of grant committees. The DoD ASKS families what they think of their previous research work and how they can better respond to the needs of people living with autism NOW.
