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The global prevalence of Rett syndrome is estimated to be 7.1 cases per 100,000 female individuals, according to the first known meta-analysis ever done to estimate the number of girls and women worldwide with the rare neurodevelopmental disorder. This finding “may facilitate planning of therapeutic trials in this disease,…
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Girls and women with Rett syndrome who participated in a three-month, at-home physical therapy program with occasional remote supervision met or exceeded most therapy goals and gained in motor abilities, a study reports. “The proposed activity programs … improved gross and fine motor skills, and enhanced the daily physical…
Acadia Pharmaceuticals’ trofinetide has become the first treatment to be approved by the U.S. Food and Drug Administration (FDA) for Rett syndrome. It will be marketed in the U.S. under the brand name Daybue, the company announced. The medication…
A comprehensive 3D gait analysis found patients with Rett syndrome, ages 5-18, had a slow walking speed and shorter step length relative to girls without the rare neurodevelopmental disorder. The Rett patients also had wider step width and greater variability in gait features, as well as ataxia-like movements —…
Columnist Jacqueline Babiarz has learned to trust the system that provides caregiving when she can’t be with her daughter with Rett syndrome.
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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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