General: There is currently no cure for Rett syndrome. Instead, treatment focuses on managing the symptoms of the disorder.
Anticonvulsants: Patients who develop seizures may benefit for anticonvulsant drugs. These drugs may also help improve a patient's mood and/or behavior. These drugs are typically taken once daily to help prevent seizures from occurring. Phenobarbital (Luminal® Sodium) is one of the oldest and safest anticonvulsants for children. Valproic acid (Depakene® or Depakote®) has also been shown to be a safe and effective treatment for seizures.
Occupational therapy: Patients may also benefit from occupational therapy. During sessions, a therapist helps the child learn skills to help them perform basic daily tasks, such as feeding, dressing, and communicating with others. There are therapists who specialize in patients with disorders and disabilities, including Rett syndrome. Parents and caregivers can ask their children's pediatricians for recommended therapists.
Education: Some patients with Rett syndrome are educated in mainstream classrooms. Some attend public schools but take special education classes, while others attend specialized schools that are designed to teach children with disabilities. Experts also recommend exposing children to age-appropriate toys and books. Even if the child appears to be unresponsive to such stimuli, it may not be the case. This is because it is often difficult to measure a patient's cognitive abilities due to apraxia and a lack of communication skills.
Braces: Patients with scoliosis may benefit from back braces. Although these braces do not cure scoliosis, they have been shown to prevent the condition from worsening. During treatment, the curve may improve by as much as 50%. However, once the brace is discontinued, the spine will go back to its original curve. Children and adults who wear braces can move without much restriction.
Surgery: Orthopedic surgery may be needed for patients who develop scoliosis. Surgery is performed if the patient's curve is greater than a 40- to 50-degree angle. During surgery, the vertebrae along the curve are fused, or joined together, in order to straighten the spine. After surgery, the patient remains hospitalized for several days and recovery is several months. Complications may include bleeding, infection, pain, nerve damage, arthritis, and disk degeneration. If the surgery is unsuccessful, another surgery may be necessary.
Physical therapy: Physical therapy may help patients improve their physical strength and flexibility. This may help improve the patient's control of voluntary muscles and help improve or maintain the patient's walking skills. A variety of techniques, including exercises, stretches, traction, electrical stimulation, and massage, are used during physical therapy sessions.
tips for the caregiver
Caring for a patient with Rett syndrome can be emotionally and physically tiring at times. Parents or caregivers should make time to relax and enjoy their favorite activities. Many families receive help from outside caregivers. Families may also choose residential care, especially when the child becomes an adult.
Siblings of a child with Rett syndrome may feel left out or jealous of the attention that their sister receives from their parents. Therefore, parents should make an effort to spend one-on-one time with their other children.
Families of someone with Rett syndrome may benefit from counseling or psychotherapy sessions. These therapies may help family members cope with their loved one's illness.
Caregivers may find support from other families who are caring for patients with Rett syndrome. Many communities have local support groups for parents, family members, and caregivers of patients with the disorder. There are also many online support groups, which include chat rooms and message boards. Support groups allow individuals to talk with others who share the same challenges.
Caregivers should educate themselves about Rett syndrome. The more a caregiver knows about the condition, the better they can help the patient. Being educated on Rett syndrome may also help the caregiver learn how to communicate better with the child.
Unclear or conflicting scientific evidence
L-carnitine: The human body produces L-carnitine in the liver, kidney, and brain. Early evidence suggests that L-carnitine may be a beneficial treatment for patients with Rett syndrome. However, addition research is needed before a firm conclusion can be made.
Avoid if allergic to L-carnitine. Use cautiously with peripheral vascular disease, high blood pressure, alcohol-induced liver cirrhosis, or diabetes. Use cautiously in low birth weight infants and individuals on hemodialysis. Use cautiously if taking anticoagulants (blood thinners), beta-blockers, or calcium channel blockers. Avoid if pregnant or breastfeeding.
Currently, there is no known method of prevention for Rett syndrome. However, there is a less than one percent chance of having a baby with Rett syndrome.
Early diagnosis and prompt treatment may help improve a patient's long-term prognosis.
Because Rett syndrome is rare and it occurs randomly in infants, prenatal testing is not typically performed.