The Rossis were able to get school- and home-based
therapies and early intervention services for Matt to help
address his developmental delays. They also got him tested
for fragile X syndrome, a common genetic cause of autism.
At that time, “that was the only testing that I could seek,”
Bianca says.
But it came back negative. She went back to wondering
what might have caused it: “There were times where I’d be
like, was it because I ate tuna fish five days in a row?”
Bianca considered the since-disproved idea that vaccines
cause autism, but quickly dismissed it. Even as she and her
husband focused on getting Matt the care he needed,
questions lingered. He had gastrointestinal issues, ADHD,
and some skeletal deformities; was it a coincidence, or was
it all connected?
Finally, in 2018, the Rossis got answers. Matt, now 20,
began seeing a doctor at Bradley Hospital, in East
Providence, who told the family about the hospital’s new
Genetic Psychiatry Consultation Service. Genetic testing
has come a long way since Matt was a toddler, and can
pinpoint specific genetic changes with known links to
autism. About one-third of autism cases have a clear
genetic connection.
The family immediately agreed to the new test. They
learned that Matt has an extra copy of a piece of chromo-
some 15, known as duplication 15q syndrome, which is
associated with autism and certain developmental and
physical differences.
“It’s like this aha moment,” Bianca says. “To have it
connected back to something tangible … you can’t make
this up.” An earlier diagnosis may have helped her get more
therapeutic services for her son, like physical therapy.
That’s why she wants to spread the word about genetic
testing for people with autism. “If more parents knew
about this opportunity, they could have an answer that
could better prepare them to advocate for additional
services for their children,” she says.
PERSONALIZED MEDICINE
Daniel Moreno De Luca, MD, MSc, is a child and
adolescent psychiatrist and neuroscientist who evaluates
patients like Matt at Bradley’s Verrecchia Clinic for
Children with Autism and Developmental Disabilities. He
has a background in psychiatric genetics and neurogenet-
ics; when he was a medical resident at Yale he helped
develop an autism genetics program and inpatient unit
in Connecticut.
Autism spectrum disorder has no single cause.
20 HEALTH DISCOVERIES l WINTER 2020
Hundreds if not thousands of genes may be involved,
Moreno De Luca says, but only some of them are known;
genetic changes may be inherited, or may happen
spontaneously. Environmental factors, like viral infec-
tions, and pregnancy complications may also play a role.
Thus there is no genetic test for autism: it’s diagnosed
clinically, during routine pediatrician visits that check for
developmental delays. If it’s warranted, the doctor may
refer the family to a specialist for more comprehensive,
observational screening. After the diagnosis, the child
begins seeing specialists for behavioral and sometimes
medical treatments.
Treatment may be further refined if patients have one
of the identifiable genetic changes linked to autism.
That’s why “genetic testing is the standard of care and is
the recommendation of many professional societies,
including the American Academy of Pediatrics,” says
Moreno De Luca, an assistant professor of psychiatry and
human behavior at the Warren Alpert Medical School,
and it’s his goal to make sure every single patient with
autism is asked if they want to be screened. “But over
two-thirds of people have never even been offered genetic
testing or discussed that with their physicians,” he says.
Yet the results of such tests may significantly change a
patient’s care, he says. For example, if someone has a
genetic change known as 17q12 deletion, they are at
increased risk for kidney problems and diabetes. So their
doctor would “stay away from [medications] that would
impact the kidney function or the endocrine function, or
use them carefully,” Moreno De Luca says.
“The information does not pertain only to medication
choice,” he adds. “We could have a better idea of the
strengths and challenges that people have.” Patients with a
genetic condition called Phelan-McDermid syndrome have
a very hard time talking, for instance. “But they can
communicate in other ways,” Moreno De Luca says. Using
assistive technology to help them communicate would be
much more fruitful than, say, speech therapy. “Building on
the strengths,” he says, “can also be a very strong approach
that can be informed by genetics.”
Bianca Rossi says Moreno De Luca recommended that
Matt get a more specific genetic test after his initial
evaluation found duplication 15q syndrome. “Kids that
have [this condition] and have a seizure disorder tend to
pass away in their sleep, which is extremely frightening,”
she says. Though they’ve never observed Matt having a
seizure, they want to rule out the possibility.
“It’s our ethical duty to use as much information as we