A Disorder in its Research Infancy
Research into Rett syndrome (RTT) dates back barely more than 40 years. Dr. Andreas Rett first discovered the disorder in 1966, and as such, much is still unknown, especially regarding Rett syndrome lifespan. Concrete studies and clinical trials did not begin until the early 1980s. While many developments regarding the causes and stages of Rett Syndrome have become known in recent years, life expectancy statistics are scarce and indeterminate.
Rett syndrome is a rare neurological disorder striking less than one in every 10,000 girls. Prior to the 1980s, little information was available due to its rarity. The four stages of Rett syndrome take decades to evolve, meaning many girls who displayed symptoms went undiagnosed simply due to a lack of understanding and awareness.
Today, most confirmed cases of Rett syndrome involve patients under the age of 18. Because part of the diagnostic process requires extensive data involving a young girl’s early developmental years, few patients over the age of 40 or 50 have confirmed RTT diagnoses. The kind of head growth data, early cognitive ability documentation, and other information needed does not appear in the medical histories of these patients, making accurate diagnosis and gathering of statistical data difficult.
What is Known about Rett Syndrome Life Expectancy
Studies and statistical data indicate that a child diagnosed with Rett syndrome today stands a 95% chance of living to her mid-20s. National averages for neurologically normal females 20-25 years of age are 98%. Rett syndrome lifespan statistics drop below 70% for females in the 25-40 age range, while national averages compare at 97% at this age range. Because so few adult females over the age of 40 currently have a confirmed diagnosis of Rett syndrome, statistics beyond at 40 are sketchy, at best.
Why is Her Life Expectancy Lower than National Averages?
There is still so much that researchers, doctors, and medical experts do not know or understand about Rett syndrome. Research has pinpointed the MeCP2 gene as a direct cause of the disorder, as well as determining its specific stages. Current research continues into better treatments for symptoms such as anxiety, lack of mobility, and reduced cognitive function. However, little is understood about the causes of a patient’s shorter lifespan.
Since more than 95% of girls diagnosed with RTT are still living, that only leaves 5% of patients whose deaths researchers can study. Only about a quarter of that 5% (approximately 1.25% of all RTT patients) died from sudden and unexplainable means. The remaining 3.75% of RTT patients died due to complications such as infections stemming from lack of mobility, injuries from seizures, or other illnesses unrelated to RTT.
In the few cases available for study, common denominators for sudden, unexplained death include seizures, poor mobility, and difficulty swallowing. How these factors contribute to the death of these patients is still unclear. Even with a clear connection, the data would involve less than 2% of documented RTT cases and would therefore, provide few definitive answers or prognosis information. As research continues, doctors and medical experts hope to better clarify the unknowns in regards to expectations and statistics for Rett syndrome lifespan averages.
References and Resources
The National Institute of Neurological and Stroke Disorders https://www.ninds.nih.gov/disorders/rett/detail_rett.htm
North Dakota State University https://nawrot.psych.ndsu.nodak.edu/Courses/465Projects08/Retts/History.htm
The Society for Neuroscience https://www.sfn.org/index.aspx?pagename=brainbriefings_rett_syndrome
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