Managing Rett Syndrome as Treatment Options Expand

Regular multidisciplinary assessment helps clinicians identify changing complications and coordinate care.

Patients with Rett syndrome need ongoing assessment as their complex care needs evolve throughout childhood and adulthood. And as treatment options expand, clinicians must determine which patients may benefit and how to monitor treatment response and side effects.

Annual assessment and coordinated care

At Cincinnati Children’s, the Rett Syndrome Clinic’s core multidisciplinary team includes experts in neurology, developmental and behavioral pediatrics, physical medicine and rehabilitation, occupational therapy, speech-language pathology, nutrition and social work. Orthopaedics, gastroenterology, pulmonology, sleep medicine, physical therapy and genetics are involved as clinically indicated, depending on patient needs.

The team evaluates patients annually to identify new complications and update recommendations as patients progress through different stages of the disorder. These recommendations form a unified care plan that complements community care and supports co-management with referring physicians.

Emerging treatment and research considerations

Part of the coordination also involves exploring treatment and research avenues available to patients. For example, the FDA-approved medication trofinetide offers a disease-specific treatment option, while gene therapy remains under investigation in clinical trials.

Another important aspect of care includes offering the chance to participate in national research to advance care and support access to investigational opportunities when appropriate. The clinic participates in national registries and multicenter research initiatives designed to better understand the natural history of Rett syndrome and evaluate emerging therapies.

Another important aspect of care includes offering the chance to participate in national research to advance care and support access to investigational opportunities when appropriate. The clinic participates in national registries and multicenter research initiatives designed to better understand the natural history of Rett syndrome and evaluate emerging therapies.

When to refer

Patients with confirmed or suspected Rett syndrome may benefit from comprehensive multidisciplinary evaluation when clinical needs change, new complications emerge or families are considering disease-specific therapies or research participation. The clinic also evaluates patients with suspected or confirmed CDKL5 deficiency disorder, MECP2 duplication syndrome, MECP2-related disorders and FOXG1 syndrome.

Refer a patient

Visit the program’s Contact / Refer page for referral and contact information.

(Published October 2026)

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