Conditions Treated

The Rett Syndrome Clinic at Cincinnati Children's provides evaluation and treatment for all variations of Rett syndrome and related MECP2 spectrum disorders, including:

  • Typical Rett syndrome
  • Rett-related disorders
    • X-linked CDKL5 gene mutation
    • Chromosome 14 FOXG1 gene mutation
    • Other disorders, such as mild, late regression and preserved speech variants
    • MECP2 gene mutations without fulfilling Rett criteria
    • Males with MECP2 gene mutations
  • MECP2 duplication disorder

Evaluation

Our core team includes a pediatric neurologist, behavioral/developmental medicine physician, nutritionist, social worker, occupational therapist and speech-language pathologist. All see the patient during the initial evaluation appointment, which also can involve extensive testing to confirm or refine a diagnosis of Rett syndrome or detect MECP2 mutations. Based on the results of such testing and the initial evaluation, our team develops an individualized care plan, modifying it as the patient’s needs change over time.

Treatment Approach

Each patient’s treatment plan includes interventions designed to help with the loss of abilities, improve or preserve movement and encourage communication and social contact. These interventions address the full spectrum of clinical concerns and can include the following:

Our clinician will work with you and your child to help evaluate and manage neurologic concerns such as seizures and abnormal movements.
Our clinicians will work with you and your child to provide individualized support to manage behavioral and developmental concerns.
Our registered dietician will work with you and your child to assist with any feeding issues including weight loss or weight gain. We will discuss the most appropriate diet and other medically necessary nutritional issues.
Our occupational therapists will work with you and your child to help optimize self-care skills, fine and gross motor skills, school readiness skills, play and leisure skills, community participation and to address sensory processing deficits that may interfere with daily activities.
Our clinician will assist you and your child in the gynecologic and hormonal management from adolescence to through adulthood.
Our clinician will discuss your child’s changing needs as your child ages into adulthood including the medical, social and school-based concerns.
Our speech therapist will work with you and your child on speech and communication skills and locating necessary equipment and resources.
Our social worker will work with you and your child to find local resources and assist with Waiver Programs or insurance.

We Work with Many Specialists to Help Your Child

When needed, our team makes referrals to other experts at Cincinnati Children’s. These experts are part of our extended team, and have experience in caring for patients with Rett syndrome. They include subspecialists from cardiology, dentistry, gastroenterology, gynecology, ophthalmology, orthopaedics and pulmonary medicine, and can address problems such as:

  • Breathing issues 
  • Cardiac issues, including arrhythmias
  • Disruptive sleep patterns
  • Gastrointestinal issues, including reflux and constipation
  • Inability to receive routine oral care because of safety concerns
  • Scoliosis and other orthopedic concerns
  • Well-woman issues

Contact Us.

Contact Us

For patient referrals and non-urgent consultation during business hours, contact the program directly at 513-636-4222 or rett@cchmc.org.