Fenfluramine, an add-on medication already approved for certain types of epilepsy, may also help to reduce the frequency of hard-to-treat seizures in children with Rett syndrome, according to a new case series. The therapy specifically reduced seizures in three out of four girls with Rett syndrome who had…
Discussion
The service organization Best Buddies International has had a campaign going this month to “End the R-Word,” as the subject line in an email it sent out a few weeks ago put it. Best Buddies, which creates social and job opportunities for people with intellectual disabilities, has been conducting this…
Daybue Stix (trofinetide), a powder formulation of Daybue (trofinetide) approved to treat adults and children ages 2 and older with Rett syndrome, may be used interchangeably with the original strawberry-flavored, ready-to-use liquid formulation. That’s according to results from a Phase 1 study showing that a single 12,000…
MIT researchers have discovered that tiny blood vessels in the brains of people with Rett syndrome may be more permeable, or “leaky,” according to a new study. Using miniature models of blood vessel systems built with cells derived from Rett patients, the team found that this leakage was driven…
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
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