Rett Syndrome is a genetic mutation that is extremely rare and affects mostly girls. Rett Syndrome messes with the brain development, ability to move, speak, and breath normally. About one in every 10,000 to 15,000 girls can get this terrible disease. Other names for this disorder are RTS, RTT, Cerebral Atrophic Hyperammonemia, Autism-dementia-ataxia-loss of purposeful hand use syndrome, and etc. Rett Syndrome is caused by a mutation in a particular gene in the X chromosome. And then that gene gets other genes to get involved into the development. The parents do not pass this disease down but rather the mutation happens in the own girls body. But the mutation that causes this disease occurs randomly. But scientist are still trying to find…
Neurophysiology in the Treatment of Rett Syndrome Rett syndrome, named after Dr. Andreas Rett (Briggs,2014) who first identified the condition, is a severe neurodevelopment disorder characterized by compromised brain functions, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements, and developmental regression (Liyanage & Rastegar, 2014). The high prevalence of Rett syndrome in small children and the associated developmental regression have…
Rett Syndrome Report Cathy Qian Clinical features Rett Syndrome (RTT) is a genetic disease which presents with a seemingly normal development up until 1-3 years of age. The disease is only present in females, as it is an X-linked dominant disorder and males with a defective X chromosome die prematurely. It is rare, with an estimate of 1:10000 - 1:15000 live female births. (4) This is when Stage II begins, with deterioration of mental processes. The rate of deterioration varies. Symptoms…
Rett Syndrome Rett Syndrome is an uncommon neurodevelopmental disorder that is first discovered when a child is still an infant. This disorder is mostly found in girls, rarely is it ever found in boys. Rett Syndrome cannot be inherited from an early on ancestor, and statistically this syndrome affects one in every 10,000 to 20,000 children. Rett Syndrome has many side effects such as, teeth grinding and delayed development. Rett Syndrome is named after a physician and author who first discovered…
Introduction Rett Syndrome (RTT) is a severe neurological disorder in which a single point mutation occurs in the X-linked gene Methyl-CpG-binding protein 2 (MeCP2). While the disease itself has only been discovered within the last few decades, extensive research has vastly developed the understanding of the disease. Rett Syndrome was so difficult to discover and, subsequently, to diagnose because it encompasses a plethora of symptoms that are related to other diseases. Furthermore, the…
Rett Syndrome is an uncommon neurodevelopmental disorder that is first discovered when a child is still an infant. This disorder is mostly found in girls, rarely is it ever found in boys. Rett Syndrome cannot be inherited from an early on ancestor, and statistically this syndrome affects one in every 10,000 to 20,000 children. In 1966 an Austrian physician, Dr. Andreas Rett was the first person to have ever recorded anything about this disorder. However not until Dr. Bengt Hagberg made a…
Rett Syndrome is a disorder that affects the nervous system and is found almost exclusively in girls. Rett syndrome is caused by a malfunction in the MECP2 gene. What is exactly the MECP2 gene? Well MECP2 gene is the gene that encodes protein and essentials. How can you prevent Rett Syndrome? Well doctors have proved that Rett Syndrome is a randomly found in a female infant. RTT is a non-inherited genetic disorder. Rett Syndrome is often described as autism, cerebral palsy, Parkinson’s,…
This report breaks down Rett Syndrome (RTT) in order to inform and educate patients and their family members on the genetic and symptomatic components. To begin, RTT is a post-natal neurodevelopmental condition that almost exclusively affects females. Its characteristic symptoms include an initial normal development followed by a period of regression where the child loses the ability to perform motor functions and may exhibit autistic-like symptoms. The regression period is followed by a plateau…
What activities took place during this session? The first session was with one student, I will refer to her as Janet. Janet is an eighth grade female that has Rett Syndrome. Janet has many symptoms that are typical of a child with Rett syndrome. She has severe cognitive disabilities, she is nonverbal, has severe scoliosis, which is a curvature in her spine. Janet’s spine is “S” shaped. Because of her spine and her cognitive disabilities Janet is in a wheel chair. She also has no ability to chew…
Rett Syndrome is a postnatal neurological disorder that almost exclusively affects girls. It is a rare disease and can have many side effects in each stage of life. EEG has been shown to be critical in helping diagnose Rett Syndrome. Although it has no cure, with proper treatment of the symptoms the disease can be managed. Rett Syndrome was first described in 1966 in a journal by Austrian physician, Dr. Andreas Rett. However, the disorder was not fully recognized until 1983 when it was…