Rett Syndrome

Treatment

The treatment of RS patients requires an integrated, multidisciplinary approach including symptomatic and supportive medical management; physical, occupational, and speech therapy; and special academic, social, vocational, and supportive services.

For those with seizure activity, medical management may include administration of anticonvulsant medications, such as carbamazepine (Tegretol ®) or valproic acid (Depakene®). In addition, concurrent therapy with the medication lamotrigine (Lamictal®) may help to reduce seizure activity and improve alertness in patients with classic or mild RS.

Therapy has also included administration of levodopa (L-dopa), a precursor of dopamine, or medications that mimic the effects of dopamine (dopamine agonists). In patients with late motor impairment (stage IV), L-dopa therapy may help to alleviate muscle stiffness (rigidity).

Administration of the medication naltrexone (ReVia®), an opiate antagonist, may help to stabilize breathing irregularities. However, evidence from one study suggests that naltrexone therapy may also be associated with more rapid disease progression and deterioration of motor abilities. Patients who receive anticonvulsant drug therapy are often affected by deficiencies of carnitine. Carnitine deficiency may be treated with levocarnitine (L-carnitine, e.g., Carnitor®), which may help to improve hand apraxia.

Receiving necessary nutrients and maintaining an adequate weight may result in improved growth, interaction, and attentiveness. Early intervention may often be required to ensure appropriate nutritional and caloric intake. Such measures may include implementation of a high-fat, high-calorie diet; delivery of liquid nutrients directly to the stomach via a tube inserted through the nose (nasogastric feeding); or gastrostomy feeding. In addition, sufficient intake of fluids and high-fiber foods is important in alleviating constipation.

For RS patients with cardiac conduction defects (e.g., prolonged QT intervals), certain medications that may cause or aggravate the condition should be avoided. These may include certain antipsychotics such as thioridazine; tricyclic antidepressants; antiarrhythmics such as quinidine, sotalol, and amiodarone; antibiotics such as erythromycin; the antifungal agent ketoconazole; or other agents, such as cisapride, a stimulant of spontaneous gastrointestinal movement (GI motility).

Regular monitoring for scoliosis is important to ensure prompt detection and early, appropriate treatments, such as physical therapy (PT), the use of braces or casts, or surgery. Physical therapy may help to improve balance and the ability to walk, maintain flexibility, and strengthen muscles. PT is also directed toward preventing deformities, such as reducing joint contractures. Occupational therapy may be helpful in improving purposeful hand movements. In addition, speech therapy may improve patient interaction by providing nonverbal communication methods. The use of augmentative communication devices may also be beneficial.