Rett Syndrome Medication

Updated: Sep 16, 2020
  • Author: Bettina E Bernstein, DO; Chief Editor: Caroly Pataki, MD  more...
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Medication Summary

No medications are available specifically for treatment of Rett syndrome (RS). Antiepileptic drugs (AEDs) may be prescribed to control seizurelike activity. Antireflux agents may be given to treat gastroesophageal reflux (GER). There is some evidence that levocarnitine may be effective. Sedative-hypnotic agents are used to treat sleep disturbances. Caution should be used if propranolol is used to reduce autonomic tone as paradoxical hypertension is possible. [52]


Anticonvulsants, Other

Class Summary

AEDs are used to control seizure activity.

Carbamazepine (Tegretol, Epitol, Carbatrol)

Carbamazepine may block posttetanic potentiation by reducing summation of temporal stimulation. After a therapeutic response is achieved, the dosage may be reduced to the minimum effective level, or treatment may be discontinued at least once every 3 months.

Valproic acid (Depakote, Stavzor)

Valproic acid is chemically unrelated to other drugs that treat seizure disorders. Although the mechanism of action is not established, the drug's activity may be related to increased brain levels of gamma-aminobutyric acid (GABA) or enhanced GABA action. Valproate may also potentiate postsynaptic GABA responses, affect potassium channels, or exert a direct membrane-stabilizing effect.

For conversion to monotherapy, the concomitant AED dosage ordinarily can be reduced by approximately 25% every 2 weeks. This reduction may start at the initiation of therapy or may be delayed by 1-2 weeks if there is concern that seizures may occur with reduction. During this period, patients should be closely monitored for increased seizure frequency.

As adjunctive therapy, divalproex sodium may be added to the patient's regimen at a dosage of 10-15 mg/kg/day, which may be increased by 5-10 mg/kg/day every week to achieve an optimal clinical response. Ordinarily, an optimal clinical response is achieved at dosages lower than 60 mg/kg/day.

Topiramate (Topamax)

Topiramate is a sulfamate-substituted monosaccharide with broad-spectrum antiepileptic activity that may have state-dependent sodium channel-blocking action, which potentiates the inhibitory activity of GABA. It may block glutamate activity.

It is not necessary to monitor topiramate plasma concentrations to optimize therapy. Coadministration with phenytoin may necessitate adjustment of the phenytoin dosage to achieve an optimal clinical outcome.

Lamotrigine (Lamictal)

Lamotrigine is a phenyltriazine that is chemically unrelated to existing AEDs. The mechanism of action is unknown. Studies suggest that the drug inhibits voltage-sensitive sodium channels, stabilizing neuronal membranes and modulating presynaptic transmitter release of excitatory amino acids. The dose should be rounded down to the nearest 5-mg increment.


Nutritional Supplements

Class Summary

Vagal nerve stimulators are amino acid derivatives synthesized from methionine and lysine. They are required in energy metabolism.

Levocarnitine (Carnitor)

Levocarnitine can promote excretion of excess fatty acids in patients with defects in fatty acid metabolism or specific organic acidopathies that bioaccumulate acyl CoA esters.


Prokinetic agents

Class Summary

Prokinetic agents are used to augment cholinergic activity and improve motility in the gastrointestinal (GI) tract for treatment of reflux.

Metoclopramide (Reglan, Metozolv)

Metoclopramide increases GI motility, increases resting esophageal sphincter tone, and relaxes the pyloric sphincter.



Class Summary

Sedative and hypnotic agents are used to induce sleep.

Zaleplon (Sonata)

Zaleplon is a nonbenzodiazepine hypnotic of the pyrazolopyrimidine class. Its chemical structure is unrelated to those of benzodiazepines, barbiturates, and other hypnotic drugs, but it interacts with GABA-BZ receptor complex. Zaleplon binds selectively to the omega1 receptor situated on the alpha subunit of the GABA-A receptor complex in the brain. It potentiates t-butyl-bicyclophosphorothionate binding.

Zolpidem (Ambien, Edluar, Intermezzo, Zolpimist)

Zolpidem is structurally dissimilar to benzodiazepines but similar in activity, with the exception of its reduced effects on skeletal muscle and seizure threshold.