National Grandparents Day was this past Sunday, and it was great to see social media photos and videos of grandparents supporting and loving their grandchildren who have Rett syndrome, the condition that my daughter Abby has endured for 29 years. Abby, alas, has to be content with my…
Discussion
Researchers identified a genetic signature that explains why some people who carry certain mutations in the MECP2 gene, called C-terminal deletions (CTDs), develop Rett syndrome, while others do not. The discovery’s clinical significance was demonstrated when a severe Rett mouse model, treated with a gene-editing strategy to convert a…
Discussion
This was our second summer without Camp Communicate. Our daughter Abby, who has Rett syndrome and is nonverbal, never really got the full benefit out of the camp, which sought to encourage nonverbal kids to use their communication devices. But the absence of the camp has left a…
Discussion
A medication that’s currently used to treat Parkinson’s disease showed potential for addressing breathing problems associated with Rett syndrome in a mouse study. Scientists found that abnormal activity in the carotid body, a small structure in the neck that helps monitor oxygen levels in the blood, contributed to Rett-like…
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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