Autism – Putting The Pieces Together

From Dream.online of Childrens Hospital of Boston. by Nancy Fliesler

Studying play Matthew Huddleston plays Risk with his sister, Nora, and mother, Maureen. Matthew enjoys Risk because it lets him enact his desire to be “ruler of the world,” but Maureen would like to see him develop a wider range of interests and master the pragmatics of social interactions.

Matthew Huddleston, surrounded by an assortment of toys, picks up an airplane and repetitively crashes it into the wall. “That’s what I call a crash landing!” he says, mimicking a character from “Star Wars.” Lindsay Jackson, a research assistant from the Developmental Medicine Center (DMC), sits beside him and tries to join the game, but Matthew doesn’t respond to her overtures.

This isn’t idle play. Seven-year-old Matthew, diagnosed with Asperger’s Disorder, is a study subject. Jackson is part of the Autism Care and Research Program at Children’s Hospital Boston, which is seeking the genetic causes of autistic spectrum disorders, or ASDs.

The effort is unique in drawing researchers from diverse clinical fields: genetics, genomics, developmental medicine, neurology, neuroscience, cognitive science and bioinformatics. Plans are underway to add other Boston institutions. At the end, it’s hoped, will come a better biological understanding of the ASDs, tests to diagnose them early and more effective medical treatments. All have so far been elusive.

Matthew’s mother, Maureen, waits nearby. “Anything we can do to help new families coming up behind us, we feel we should do,” she says.
Much data, limited knowledge Autism was first described, in 1943, as children’s “inability to relate themselves in the ordinary way to people and situations.” The past two decades have seen a surge in ASD diagnoses. Some attribute this to greater clinical recognition; others blame environmental factors. The Centers for Disease Control and Prevention estimates that two to six children per 1,000 are affected.

Counting synapses Researcher Michael Greenberg’s lab has shown that blocking specific genes-and other genetic elements like microRNAs-can affect the development of synapses, the points of cross-talk between brain cells.
Today, several ASDs are recognized, including Autistic Disorder, defined by social and communication difficulties and restricted, stereotyped or repetitive behaviors, interests or activities; Asperger’s Disorder, similar to autism but with no significant delay in language or cognitive development; and PDD-NOS (Pervasive Developmental Disorder-Not Otherwise Specified), involving social impairment plus either impaired communication skills or stereotyped behaviors, interests or activities.

For decades, autism was blamed on emotionally distant “refrigerator mothers.” Then, in 1977, a study of twins provided evidence for a genetic
basis: when one twin had autism, the other twin was much more likely to also have autism if he or she was identical rather than fraternal.

Nearly 30 years later, despite extensive research, no specific causative gene has been found for any of the ASDs. There are several challenges. First, each recognized ASD probably encompasses a variety of sub-disorders, involving different genes. Second, ASDs are commonly believed to require changes in more than one gene. Third, there’s the likely role of environmental factors: even identical twins don’t always share autism.

The studies to date have lacked the size and statistical power to overcome these challenges. And few have integrated behavioral, genetic, cognitive science and neuroscience perspectives on autism in the same group of children. That integration is the goal of Children’s Autism Care and Research Program.

Comparing apples with apples Matthew, a triplet, was different from his siblings even as a newborn. “He had a frustration, a demanding of attention that my other kids didn’t have,” says Maureen. “On the playground, if he finds the tire swing is broken, he will have a monumental biting, scratching tantrum. I try to pre-teach him every situation that might come up to avoid any possible scene.”

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