The term “Rett-like” may offer little information about a person’s condition or what to expect over time, a systematic review suggests. The label is often used for people who have some features of Rett syndrome but do not meet the criteria for a diagnosis. Researchers reviewed published reports of…
Discussion
My two most recent columns were about the documentary “Silent Angels: The Rett Syndrome Story,” and how it came to be. The film was broadcast on television in 2000, the year our daughter Abby, who has Rett syndrome, turned 3. When I rewatched it to write…
Discussion
When our late daughter, Cammy, was diagnosed with Rett syndrome in 2011, our family entered a world we knew very little about. Like so many families receiving a rare disease diagnosis, we had endless questions, and it was difficult to find answers. Over time, the International Rett…
Discussion
A girl in Sweden who was diagnosed with Rett syndrome at age 7 despite testing negative for standard gene mutations was found to have an “alternative genetic cause” for the rare disease: a change in the DNA sequence of the GABBR2 gene. The researchers say this child’s case shows…
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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