Different mutations that cause Rett syndrome can have divergent effects on brain cell activity, a study found. The findings “hold promise for understanding mutation-specific mechanisms of Rett syndrome, and developing targeted mutation-specific therapeutics,” the researchers wrote. Through a series of experiments using cell models, the researchers identified biochemical strategies…
Discussion
So much of human interaction is based on asking a question and getting a response. “How are you today?” “Did you have fun on your vacation?” “How’s the job going?” I’m still asking my daughter Abby questions every day, though she hasn’t answered one in the 29 years she’s been…
Discussion
“How do you tell your child their sibling is going to die?” That is a question I never expected to Google. In early November 2023, our oldest daughter, Cammy, was on a BiPAP machine in the pediatric intensive care unit (PICU) when she stopped breathing. The medical team rushed…
New recommendations support the use of the ready-to-use liquid formulation of trofinetide, sold as Daybue, as a first-line therapy for eligible people with Rett syndrome. A panel of 25 experts in managing the disease reached consensus on the recommendations. The panel endorsed early treatment initiation and an…
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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