Rett Syndrome Clinic Gains Momentum
Shannon Standridge, DO, MPH, didn’t plan to specialize in caring for children with Rett syndrome. But she couldn’t help but notice how many of them were coming to her epilepsy clinic at Cincinnati Children’s six years ago. The pediatric neurologist’s interest in meeting their unique needs grew, and eventually spread to other physicians at Cincinnati Children’s. By 2013, she and Patty Manning-Courtney, MD, a developmental and behavioral medicine specialist at the hospital, teamed up to offer a monthly Rett Syndrome and Related Spectrum Disorder Clinic. Now, more than 150 patients rely on the multidisciplinary clinic, which recently expanded its hours to accommodate an increase in referrals.
Comprehensive care New patients, some of whom travel from as far away as Illinois and Florida, undergo a thorough evaluation. Every member of the core team participates, including Drs. Standridge and Manning-Courtney, along with an adolescent gynecologist, speech pathologist, occupational therapist, registered dietitian and social worker. The team creates a comprehensive treatment plan that includes interventions designed to help with the loss of abilities, improve or preserve movement, and encourage communication and social contact. Follow-up care is customized to each child and family’s specific needs.
Meeting diverse needs Rett syndrome occurs almost exclusively in females, and is caused by mutations on the X chromosome on a gene called MECP2. In recent years, genetic testing has revealed more than 200 variations of the MECP2 mutation that may lead to classic or atypical Rett Syndrome. Additionally, MECP2 related disorders have become more recognized. The clinic welcomes patients with any Rett syndrome variant, as well as patients who are well beyond adolescence. “We have expanded to meet the needs of our patients from a gender and aging aspect, as well as from the perspective that Rett syndrome can cause a wide range of disabilities,” says Standridge, whose practice also includes children with Rett Syndrome-related disorders such as FOXG1 and CDKL5 syndrome. “As more and more families entrust their children to our care, we have gained valuable experience to recognize patterns of concern and opportunities for intervention.”
Over the years, the Rett syndrome team has established strong relationships with pediatric cardiologists, gastroenterologists, orthopaedic surgeons and other subspecialists at Cincinnati Children’s, creating a network of support. “These physicians have strong expertise in caring for conditions associated with Rett syndrome, such as breathing issues, reflux and constipation, disruptive sleep patterns, scoliosis and arrhythmias, and they respond very quickly to any request for help, whether it comes from the core team or a parent,” says Standridge. “These physicians truly share our team’s passion for taking care of people with Rett syndrome – together we are able to provide high-quality care in a very personal yet efficient way.”
Commitment to research The clinic team works closely with RettSyndrome.org, a national organization based in Cincinnati that in the last 20 years has invested $41 million in Rett syndrome research. In 2016, RettSyndrome.org named Cincinnati Children’s a Clinical Research Center of Excellence, in recognition for its commitment to the Rett Syndrome Natural History Study, which seeks to identify and understand the core clinical features of Rett syndrome and related disorders, as well as information about patients’ quality of life. Cincinnati Children’s is one of 14 Clinical Research Centers of Excellence.
In addition to enrolling patients in the Natural History Study, Standridge and her colleagues partner with pharmaceutical companies and researchers at other institutions to study Rett syndrome and identify potential therapies. For example, Cincinnati Children’s participated in a recent phase 2 clinical trial for the compound trofinetide, which shows promise in improving breathing, hand wringing and mood among Rett Syndrome patients.
Standridge and her team will soon begin enrolling patients in two different studies, each evaluating different neurophysiologic features in patients with Rett Syndrome. The studies will use testing such as audio and visual evoked potentials, as well as transcranial magnetic stimulation. The Rett Syndrome team also offers clinic-based research studies to evaluate nutrition and gastrointestinal health, gynecologic concerns and occupational outcomes. “I never anticipated how much our clinic would grow in such a short time,” Standridge says. “It has been really exciting to work with such a dedicated team and with other specialists across the country to make a difference in the lives of children and adults with Rett syndrome.”
To learn more, contact Shannon.Standridge@ccchmc.org.