Autism research offers new hope

Feb. 22, 2016
When I was in grammar school, maybe third, fourth, fifth grade—50 years ago, I’m no spring chicken—there was a kid in my class who had a lot of problems. His name was L, and he just didn’t know how to fit in, didn’t know how to act. He would sometimes get into sudden, angry fights with other kids; more often, he would seem to insulate himself from class activities, downcast at his desk. He sometimes raised his hand to answer a question, but instead of answering it, he started in on long, rambling monologues, about events in the life of his family, about his hobbies (he had a rock collection, it’s funny what one remembers), about a movie he had seen two years ago—all in a raspy, whining voice. He went on for so long that the class would groan and say, “L, get to the point,” or worse. The teachers didn’t really know how to handle him, and sometimes they would roll their eyes or lash out in frustration, which only encouraged the class to mock him in the cruel way kids can pile on an outcast. I remember thinking, “He wants us to like him, but he doesn’t know how to get people to like him.” He was a frustrated, tormented, friendless figure.

Thinking back on L now, I realize that he very likely suffered from autism spectrum disorder (ASD), and unfortunately for him, there was almost no recognition of ASD then. The term autism has existed for more than 100 years, and by the 1960s researchers and specialists were beginning to define it more precisely and refine it as a diagnostic classification, but autism was certainly not part of the vocabulary of the average family doctor then, much less the average grammar school nurse or psychologist, so there was no help for L. Now there would be; he would be diagnosed, surely, with Asperger syndrome—he checked all the boxes for that ASD—and receive appropriate therapies.

What occasioned this childhood flashback for me was a fairly steady stream of news about research into more refined diagnostics for ASD—both genetic and serological—and other useful research.

* Using a novel approach that hones in on families severely affected by autism, a Johns Hopkins-led team of researchers has identified a new genetic cause of the disease. The team compared the gene sequences of autistic members of 13 such families to the gene sequences of people from a public database. They found four potential culprit genes and focused on one, CTNND2. When they studied the gene’s effects in zebrafish, mice, and cadaveric human brains, the researchers found that the protein it makes affects how many other genes are regulated.

* Scientists from Touro College of Osteopathic Medicine (New York) and Hadassah University Hospital, Jerusalem, have called for the testing of umbilical cord blood for levels of a growth protein that could help predict an infant’s propensity to later develop autism. They propose that depressed levels of a protein called insulin-like growth factor (IGF) could potentially serve as a biomarker that could anticipate autism occurrence.

* Researchers at Cincinnati Children’s Hospital Medical Center have used electronic medical records and birth information to verify and strengthen an already suspected link between autistic children and pregnant mothers with obesity and diabetes. According to study data, pregnant mothers with obesity or gestational diabetes were 1.5 times more likely to have a child with ASD. The increased risk of ASD for pregnant mothers with both obesity and gestational diabetes was two-fold.

And hot off the presses: A University of Missouri-Columbia study suggests that the common hypertension drug propranolol might improve communication and social interaction skills of children with autism. Today’s targeted research promises help on the way for today’s L’s.