There is no cure for Rett syndrome. Treatment is directed towards improving function and addressing symptoms throughout life. A multi-disciplinary team approach is typically used to treat the person throughout life. This team may include primary care physician, physical therapist, occupational therapist, speech-language pathologist, nutritionist, and support services in academic and occupational settings.
Treatment of Rett syndrome includes: Because of the increased risk of sudden cardiac death, when long QT syndrome is found on an annual screening EKG it is treated with an anti-arrhythmic such as a beta-blocker. There is some evidence that phenytoin may be more effective than a beta-blocker.
Therapeutic
Trofinetide
Occupational therapy The symptoms of RTT severely limit individuals from independently taking part in meaningful activities in their day-to-day lives. As a result, most people with this disorder are very dependent on their caregivers in most areas of their lives. Occupational therapists (OTs) try to find ways to encourage these individuals to take part in activities that are meaningful to them, as this has been shown to improve health and well-being. The goals of occupational therapy interventions are to maintain or improve the functional abilities of individuals with this disorder. It is important to remember that services for each individual with RTT can differ greatly. OTs work together with clients and their families to help clients achieve their unique goals. OTs not only provide direct services for the client and families, but they can also connect family members to information and resources outside of occupational therapy. Services provided may include but are not limited to: maintaining motor and daily living skills and maintaining cognitive and communication functioning.
Physical therapy Goals of physical therapy treatment include improving and maintaining function by addressing impairments in mobility, posture, cardiovascular endurance, coordination, and balance. A physical therapist can also fit braces, casts, and assistive devices as necessary to those with Rett syndrome to address bony malformations, and stabilize joints.
Hydrotherapy Hydrotherapy is an alternative is a branch of both physiotherapy and occupational therapy. There is some evidence to suggest that hydrotherapy can improve movements, feeding skills, motor skills and walking balance in children with Rett syndrome.
Self-care Some symptoms such as involuntary stereotypical hand movements can make eating a very difficult self-care task for individuals with RTT. One way OTs address this problem is by educating and encouraging caregivers to practice guided feeding. Guided feeding involves having the individual with RTT grasp the spoon, with the caregiver's hand on top of the child's to guide eating movements. The purpose of this therapy is to encourage involvement in this important self-care activity, particularly for individuals with severe cases of RTT. Signals such as opening their mouth in preparation for food, rejecting unwanted foods, and spending an increased amount of time watching their helpers, indicates that guided feeding therapy can increase engagement in eating in some cases. Another way OTs may increase involvement in eating and hand function in general is by making hand splints. Research suggests that hand splints place the hand in a more functional position and prevent repetitive motion; this leads to better finger and spoon-feeding skills. Although fully independent feeding is rare for individuals with RTT, hand splints allow them to become more engaged in eating. Alternatively, active participation can be encouraged through the use of elbow splints, which decrease the repetitive stereotyped arm movements characteristic of RTT. As a result, socialization and interaction with the environment during eating may increase. Other adaptations to eating include altering the pace of feeding and recommending specific foods and textures that the individual is easily able to swallow, which is difficult done by a speech therapist. In addition, OTs provide adaptive devices such as cuffs and loops (to help the individual hold their utensils), large handled utensils that are easier to grasp, and cups with lids to assist with eating and address proper nutrition. In general, all of these therapeutic methods are aimed at improving the quality of the swallowing response and general eating performance. Although parental and self-reports indicate good appetite in most of the population, weight loss is an issue that many individuals with RTT face. This suggests the importance of proper nutritional education for both the individual and their caregivers. This education, along with meal management and planning, may be provided by the Speech and language therapist often in consultation with OT, a nutritionist or dietitian. Seating and positioning the individual can also affect how they do daily tasks such as eating, dressing, and grooming. For an individual to engage in these tasks, OTs may adjust and modify tables, chairs, and wheelchairs to promote positive interactions within different social environments. OTs are also involved in educating families on various adaptive devices that can promote comfort, ease of use, and safety for children and their caregivers. Some of the commonly used adaptive devices include bath benches, toilet chairs, and movable shower heads. Finally, occupational therapists work with children and their families to develop skills required to brush their teeth and hair, bathe, and dress. If children with RTT are in school during the day, OTs PTs and speech pathologists can play a role in teaching special education assistants (SEAs) about the self-care needs of the child. This can include education on feeding techniques that are suitable for the child, proper mechanics of lifts and transfers, as well as toileting techniques and routines.
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