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

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:

  • Seizure Management: Our clinician will work with you and your child to help evaluate and manage neurologic concerns such as seizures and abnormal movements.
  • Behavior Management: Our clinicians will work with you and your child to provide individualized support to manage behavioral and developmental concerns.
  • Registered Dietician: 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.
  • Occupational Therapy: 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.
  • Gynecology: Our clinician will assist you and your child in the gynecologic and hormonal management from adolescence to through adulthood.
  • Adolescent and Transition Medicine: Our clinician will discuss your child’s changing needs as your child ages into adulthood including the medical, social and school-based concerns.
  • Speech-Language Pathology: Our speech therapist will work with you and your child on speech and communication skills and locating necessary equipment and resources.
  • Social Work: Our social worker will work with you and your child to find local resources and assist with Waiver Programs or insurance.

Extended Team of Specialists

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