Enhancing Care for Rett Syndrome
Clinic provides comprehensive care, multiple therapies—and a chance to try out assistive technology.
By Katie Sweeney
Children’s Hospital Los Angeles has re-launched its Rett Syndrome Clinic in an expanded space: the new Neurological Institute Outpatient Center, which opened earlier this year at the hospital’s Sunset Boulevard campus. The clinic, led by Payal Gu, MD, will enhance specialized care and bring together numerous therapies for children with Rett, a rare genetic neurological disorder that almost exclusively affects girls.
“Our new space is perfectly positioned for multidisciplinary care, giving us the ability to connect patients and families with a variety of subspecialists throughout the hospital, including gastroenterologists, and to tailor treatment to each individual patient’s needs,” Dr. Gu explains. “The goal is to provide a neurological medical home for these girls and their families.”
Rett syndrome occurs in about 1 in 10,000 female births and is caused by mutations of the MECP2 gene on the X chromosome. Although most babies seem healthy at first, between 6 to 18 months of age, their development can begin to slow and then regress—typically affecting their ability to walk, talk, eat, sleep and communicate. One of the hallmark symptoms is repetitive hand motions or loss of purposeful use of the hands.
Symptoms and disabilities can range widely from child to child, depending on the type, location and severity of the mutation. That creates a need for highly individualized care.
Opening a door
Because there is no cure for Rett syndrome, current therapies are supportive and aimed at improving girls’ quality of life. During their extended clinic visits at Children’s Hospital Los Angeles, patients have the opportunity to be evaluated by providers in speech-language pathology, physical therapy, occupational therapy and nutrition services.
Co-Director Kathryn Smith, RN, MN, DrPH, is an integral part of the team, working closely with each patient and family before and after their clinic visits with Dr. Gu. Dr. Smith, who has extensive experience with Rett patients and children with developmental disabilities, co-directed the hospital’s previous Rett Syndrome Clinic with Arthur Partikian, MD, for 10 years.
The Neurological Institute also offers world-class expertise in epilepsy and seizure control, as well as movement disorders. Both are common issues with Rett patients. Another common issue is sleep disturbances and sleep-disordered breathing. Dr. Gu’s background—she is Board-certified in both child neurology and sleep medicine—gives her a unique perspective in addressing these conditions in Rett patients.
In addition, the team is giving families opportunities at the clinics to try out eye gaze tracking devices.
“Eye gaze tracking can really open a door and be a very effective form of communication for girls with Rett syndrome who don’t have the ability for verbal speech and can’t control their hand movements,” says Dr. Gu. “That’s one of the ways we are hoping to make a difference in patients’ lives, by helping them develop those communication skills at an earlier age.”
Hope on the horizon
One of the team’s long-term goals is to help educate more pediatricians and general neurologists in the community about Rett Syndrome.
“Often, the biggest barrier for families is getting a diagnosis,” Dr. Gu notes. “That early genetic diagnosis can make a difference in the treatments that can then help improve a child’s quality of life.”
Early diagnosis will be even more important going forward. With several leading-edge treatments for Rett syndrome in the pipeline, the Rett Syndrome Clinic within the multidisciplinary Neurological Institute is well-positioned to be an integral part of future clinical trials.
“As a field, we’re making so much headway in understanding this disorder. We are just on the cusp of an exciting new therapeutic era, with a possible gene therapy,” she says. “There is a lot of hope on the horizon.”