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Friday, June 26, 2015

MGH Study Suggests Genetic Link in Autism

From The Boston Herald

By Lindsay Kalter
June 11, 2015

A leading autism expert at Mass. General Hospital says his ongoing study is suggesting a strong genetic link in high-functioning autism cases — with multi­-generational cases within families — as he identifies a growing number of adults who share the disorder with their children. 

Dr. Gagan Joshi’s study at Mass. General Hospital shows
multigenerational cases of high-functioning autism.

Dr. Gagan Joshi, a psychiatrist and medical director of MGH’s Alan & Lorraine Bressler Clinical and Research Program for Autism Spectrum Disorders, said about 250 of the roughly 1,000 children, or 25 percent, seen at the center have at least one parent with a form of autism.

Autism seems to be “a highly, highly genetic disorder,” Joshi said. “A lot of times, in the clinic, we will diagnose children and then see their parents also show signs.

“The numbers are way higher than expected, and they’re growing,” Joshi said. About five years ago, he said, the number of diagnosed multi­generational cases in his clinic was 44 out of 300 families — or about 15 percent.

Past studies have found a link between autism and mutations in SHANK3, a gene that plays a key role in the communication between neurons, suggesting that autism could be passed on genetically.

As Joshi diagnoses more adults with the disorder, he said it is often the answer to a lifelong mystery for them.

“It’s social blindness, and for many people, it’s undiagnosed for a long time,” Joshi said. “Telling someone they have it is like telling a colorblind person they’re colorblind. The diagnosis helps them make sense of things.”

Joey Mele, 56, of Williston, VT — a father of three children with autism — told the Herald that his own diagnosis “was sort of like all the pieces falling together.”

“I came to that realization a long time ago in my late-30s that I was missing something really big,” said Mele, who studied physics and engineering and now owns an IT consulting company.

The Meles came to Joshi in 2011 seeking answers for their children, who were having problems relating to their peers. But Joey Mele exhibited some superficial telltale signs, Joshi said, such as problems maintaining eye contact.

“One of the spectrum traits he has is that he cannot take somebody else’s perspective,” Joshi said. “He cannot make social judgments, relationship judgments.”

Lori Mele, 48, said that for many years, she chalked up her husband’s behavior to insensitivity.

“Now I really have an understanding and more of a respect for those differences,” she said.

Julian, the couple’s oldest child, said of his father’s diagnosis, “It makes me want to cry — not from sadness, but from joy. That my dad had it his whole life and became successful ... it kind of gives me a little bit of a good path to look down.”

Joshi said the link between parents and children with high-functioning autism needs further research, which has largely been focused on the more extreme cases.

“Most of the autism measures we know are for low-functioning autism,” Joshi said. “We are creating some measures to figure out more about high-functioning autism, so we can better understand that population.”

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