A family finds a medical home in Autism Speaks Autism Treatment Network and gladly "gives back" to autism research by becoming part of the network's patient registry.
By Rachel Nuwer
Until Gianna Ferrari was 2½, her parents, Bernie and Jillian, didn’t notice that their little girl wasn’t behaving like other toddlers her age. Because Gianna had kidney and urinary tract problems, the Ferraris, who live on Staten Island, stayed focused on her medical issues. Then Gianna’s baby brother, Anthony, came along.
By the time Anthony was 6 months old, the differences between the two siblings became glaringly obvious. Anthony clearly responded when his parents talked to him. Gianna still didn’t. Anthony was playing with his baby toys. Instead of playing with toys, Gianna obsessively lined up DVDs. She would stare into space for minutes at a time, as if she saw something no one else could.
As a teacher, Jillian had taught a first grader with Asperger syndrome, a high-functioning form of autism. She saw similarities in her daughter’s behaviors. A psychologist sent by their local school district diagnosed Gianna as having pervasive developmental disorder not otherwise specified (PDD-NOS), another subtype of autism. But the exam seemed rushed, and the Ferraris had their doubts.
Care and Research: Autism Speaks ATN
They took Gianna to the Developmental Neuropsychiatry Program at Columbia University Medical Center. The center is part of Autism Speaks Autism Treatment Network (ATN).
There, specialists assessed Gianna with behavioral evaluations, as well as physiological and genetic tests. They confirmed that Gianna had autism and helped enroll her in a comprehensive program of care.
In the months that followed, Gianna began behavioral therapy five times a week at home. She also received speech therapy and enrolled in a preschool that provided additional early-intervention services. Jillian quit her teaching job to work with Gianna at home and coordinate her therapy appointments.
Then, as Gianna neared her fifth birthday, one of her therapists noticed her tendency to stare into space. She raised the possibility that Gianna might be having epileptic seizures.
At Columbia’s ATN center, pediatric neurologist Reet Sidhu, M.D., conducted an overnight electroencephalography (EEG). The noninvasive test employs a head cap studded with electrodes to measure and record brain activity.
The EEG showed that Gianna had “epileptiform discharges” — abnormal brain activity similar to that seen in epilepsy. Epileptiform discharges can predispose people to seizures but don’t mean they’re inevitable, Dr. Sidhu told the Ferraris. Gianna’s staring wasn’t due to seizures, but her EEG was clearly abnormal.
“We know that children with autism spectrum disorders have a higher risk of epilepsy,” Dr. Sidhu explains. “But what is not entirely clear is the relationship of abnormal epileptiform discharges to behavior or how we can best help children who have abnormal EEGs but don’t have true epileptic seizures.”
The Autism-Epilepsy Connection
An estimated 10 to 30 percent of individuals with autism have epilepsy with obvious seizures. As many as 60 percent have epileptiform discharges that show up only on an EEG.
Dr. Sidhu’s research focuses on studying the relationship between this pattern of abnormal brain activity and behavior. Specifically, she and her colleagues seek clearer understanding of whether and how these discharges contribute to autism symptoms and related behavioral problems in areas such as attention and mood.
“It’s a tricky area because we don’t know if these are the cause of autistic behaviors or just a symptom of underlying brain dysfunction,” Dr. Sidhu says. “It’s a chicken or egg situation.”
“In the past, we would never have considered prescribing anticonvulsant medication unless someone actually had seizures,” she adds. “But we’re re-thinking this notion. The answers aren’t clear cut. But what an exciting thought to potentially have a treatment for some of the problem behaviors that prove so challenging for these children.”
In 2011, Dr. Sidhu began collaborating with neurologists at other Autism Speaks ATN sites to study the effects of abnormal EEG activity such as Gianna’s. The research is being funded by the U.S. Human Resources and Services Administration (HRSA) through Autism Speaks Autism Intervention Research Network on Physical Health (AIR-P).
For the multi-site study, the researchers recruited 60 children with autism, ages 3 to 7, none of whom have epilepsy. The team is looking at how EEG abnormalities relate to daytime behaviors such as inattention and aggression. If they find such associations, the next step will be to explore potential treatments.
“This partnership between Autism Speaks and HRSA has provided critical funding to investigate key areas of medical concern, including epilepsy, among parents of children with ASD,” says Autism Speaks Vice President of Clinical Programs Clara Lajonchere, Ph.D. “Given the high rates of epilepsy among children and adolescents with autism, it’s imperative that we can quickly translate the results of well-designed studies into safe and effective treatments and interventions for these individuals.”
Family Ties to Autism
Dr. Sidhu’s interest in autism and epilepsy began within her own family. Her younger brother, now 37, has had lifelong developmental and learning disabilities. As a child and young adult, he struggled socially. He has also suffered from seizures since he was a baby. Doctors offered up labels such as “minimal brain dysfunction” and “learning disabilities,” but never gave him a specific diagnosis.
“Being an older sister, this touched my life tremendously,” says Dr. Sidhu. “I was always trying to figure out what was wrong with my brother because none of those labels seemed to capture the problem. My brother is the reason I became a pediatric neurologist.”
While pursuing her medical degree, she reviewed case studies of children and adults affected by autism, with symptoms that mirrored her brother’s. She trained in pediatric neurology and began seeing high-functioning patients with autism. It was then that Dr. Sidhu realized her brother, too, was on the spectrum. She gave him the formal diagnosis that had eluded his childhood doctors.
“That label gave him an answer for why he had struggled socially throughout his life,” Dr. Sidhu says. “He’s comforted to know he’s not alone.” A mechanical whiz who spends much of his free time disassembling and reassembling computers, he set about creating a website called the Chicago Autism Society. He has even helped with research – enrolling in a brain imaging study at Columbia University.
A Career Takes Shape
Helping her brother better understand his abilities and disabilities further shaped Dr. Sidhu’s interest in autism and the combination of research and patient care embodied by Autism Speaks ATN. “I knew that I wanted to do autism work and that it would be my lifelong commitment,” she says. “Being part of the ATN means I can tap into an engaged and versatile community of researchers and families.”
Today Dr. Sidhu co-chairs the ATN’s Neurology, Genetics and Metabolics Committee. It brings together experts in pediatric neurology, genetics, metabolism, sleep and developmental pediatrics. All the members are both doctors and researchers committed to collaborating on studies that cut across their related fields. Together, we are creating evidence-based guidelines to provide a standard of care in the neurological workup of autism spectrum disorders, Dr. Sidhu says. “Our goal is simple: to improve the clinical care of our children with autism.”
Through Autism Speaks ATN, Dr. Sidhu also participates in international efforts to better understand the connection between autism and epilepsy, while directly helping families grappling with this and related neurological issues.
With the Ferraris, Dr. Sidhu recommended against putting Gianna on seizure medication at this time, since she wasn’t having true epileptic seizures and the drugs have side effects.
Instead she suggested that Gianna continue to receive autism intervention services for her behavioral issues, while returning for follow-up neurological exams two or three times per year. At these exams, Dr. Sidhu observes Gianna while she plays, asks her to run in the hallway, checks her reflexes, examines her eyes and measures her head. Gianna’s mother signs a waiver allowing Dr. Sidhu to use the test results in her research.
“If they can be helpful for someone else, that’s great,” says Jillian, who looks forward to the day when researchers can provide more answers – and treatments – for the neurological problems so often associated with autism. Meanwhile, she actively maintains a Facebook page – Jillian’s Special Needs Family – which she loads with resources, advice and encouragement for families going through similar experiences.
With the support of her family, classmates and therapists, Gianna’s social life is progressing. Now seven years old, she takes dance lessons and participates in Girl Scouts. She attends classes at a special education school during the week and enjoys several one-on-one sessions with therapists after school. She is learning to read and can count coins and tell time.
On Saturdays Gianna attends Kids Connection USA, on Staten Island. The program brings kids on the autistic spectrum together with typically developing peers to simply have fun and socialize. Gianna particularly enjoys arts and crafts and playing board games with her new friends.
Gianna still has tantrums almost daily. She also lacks awareness of everyday dangers, and so requires supervision. But these challenges used to be far worse, says her mom, who credits Gianna’s behavioral therapy and anti-anxiety medication. “She’s better able to communicate her needs now, which helps us eliminate the tantrums.”
At the same time, her parents report that each visit from the behavioral therapist brings noticeable improvements. Dr. Sidhu and her staff have noticed the improvements as well. The first time Gianna visited their office, she hardly spoke. In follow-up trips, she screamed, “I want to go!” over and over again in the waiting room and would endlessly repeat the phrase “How are you, Dr. Sidhu?” in the exam room.
A year and a half later, she’s speaking politely, cooperating with her doctors and engaging less in repetitive behaviors during her visits.
“Her anxiety has clearly improved over time with the help of behavioral interventions,” Dr. Sidhu says. “The Ferraris embody such great attributes of a family dealing with a child with a disability because they are so dedicated, so willing to do everything for Gianna, and they handle all adversities with such grace,” Dr. Sidhu continues. “They make it seem almost effortless in some ways. I’m fortunate to be part of the care team for Jillian and her family.”
Autism Speaks Autism Treatment Network
Autism Speaks Autism Treatment Network (ATN) is the first and largest North American consortium of medical centers dedicated to improving medical treatment for individuals with autism spectrum disorder. Autism Speaks established the ATN to provide families with state-of-the-art, multidisciplinary care for children and adolescents with autism and its associated conditions. Through a sizeable grant from the HRSA, Autism Speaks Autism Treatment Network also serves as the nation’s Autism Intervention Network on Physical Health (AIR-P), dedicated to research that advances autism medical practice nationwide. To find an ATN center near you, click here.