CHOC’s Thompson Autism Center (TAC) has begun seeing patients in a new clinic devoted to the diagnosis, treatment, and study of Fragile X, an uncurable and rare genetic condition that can cause lifelong developmental problems.
The Fragile X Clinic, which became operational in September 2022, is the only center of its kind south of Long Beach and is expected to pull in patients from San Diego County and the Inland Empire in addition to Orange County.
The opening of the clinic comes a few months after CHOC was accepted, following a rigorous review, into the national Fragile X Clinical & Research Consortium, a collection of specialized clinics that provide multidisciplinary services such as genetic counseling and occupational, speech, language, and behavioral therapies.
“I think there’s a huge need, and this will be a perfect set-up,” says Dr. Sailaja Golla, a pediatric neurologist and neurodevelopmentalist and director of CHOC’s Fragile X Clinic.
About 1 in 4,000 boys and 1 in 8,000 girls are diagnosed with Fragile X syndrome, and almost 50 percent of males and 16 percent of females with Fragile X have Autism Spectrum Disorder, according to the U.S. Centers for Disease Control and Prevention.
Children with Fragile X syndrome can have mild or severe forms of anxiety, intellectual disability, ADHD, learning disability, and seizures. Therapies and early intervention can help ease these symptoms.
Dr. Golla started at CHOC in May 2021. Prior to that, she was the co-director of the Fragile X Clinic at UT Southwestern Medical Center in Dallas. In addition to her duties at CHOC, Dr. Golla is a clinical associate professor at the UC Irvine School of Medicine.
“She was the catalyst to getting this clinic up and running,” says Dr. Tom Megerian, clinical director of the TAC.
What to expect
There currently are 35 patients in CHOC’s system who have Fragile X syndrome, Dr. Megerian says. Their condition was discovered during such visits as a surgical procedure or GI issue, he explains.
Now, at the Fragile X Clinic, these and other patients will have a home.
Once a month, patients will come to the clinic and be assessed by a multidisciplinary team that includes specialists from psychology, psychiatry, neurodevelopmental, speech and occupational therapy, child life services, social workers, and others.
“This clinic provides us with the opportunity to conduct world-class research on Fragile X syndrome and for patients to receive more holistic care in a collaborative environment,” Dr. Megerian says.
At the initial appointment and evaluation, patients will be seen by specialists from neurology, neurodevelopmental disabilities or developmental pediatrics and psychology, social work/resource coordinator.
Speech language, genetic testing and counseling, psychiatry, clinical social work, neuropsychology testing, physical therapy, occupational therapy, behavior psychology, and other disciplines will be scheduled based on clinical need. Medication management also will be provided, if needed.
Follow-up appointments will be scheduled on a regular basis.
A seasoned researcher
Dr. Golla graduated in 2000 from Vijayanagar Institute of Medical Sciences, a top medical school in India. She underwent residency training in pediatrics at the University at Buffalo, followed by residency and fellowship training in child neurology and neurodevelopmental disabilities at UT Southwestern Medical Center.
She has board certification in neurology with a special qualification in child neurology issued by the American Board of Psychiatry and Neurology.
CHOC currently is involved in three therapeutic studies concerning Fragile X syndrome and Dr. Golla was an author of a recent study published in Frontiers in Pediatrics that examined seizures in children with Fragile X syndrome. It is the only longitudinal study of seizures to date in patients with Fragile X syndrome, and it involved the largest clinically evaluated cohort of individuals with the disorder.
“As a member of the consortium,” Dr. Golla notes, “we will have access to a national database to help us provide the best possible therapies for our patients. We are beginning to get better diagnostic tools and earlier intervention and treatment.”
She adds: “Fragile X patients are a little underserved, but now the future looks more promising with more therapies and the establishment of this clinic and access to the national Fragile X Clinical & Research Consortium and its research studies.”
Along with Dr. Megerian and Dr. Golla, Wendy Altamirano, executive director of the TAC, recently attended an International Fragile X conference in San Diego.
“I really came away with what a strong sense of community this group has,” Wendy says. “The families and providers and community members and researchers all share with each other a strong sense of support. I came away really energized to help families dealing with this lifelong condition.”
Learn more about the Thompson Autism Center at CHOC