Rett Syndrome Research Paper

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Jesus Lucero
Rett syndrome is a disorder caused by the mutation of the MECP2 gene, which causes cardiorespiratory dysregulation, growth abnormalities such as growth reduction of the brain, as well as scoliosis. Although, there is a vast majority of studies within young people, there is a lack of studies within the adults that have Rett syndrome. Due to the fact that Rett syndrome overlaps with other disorders such as, and ID and autism. This leads to the need of periodic evaluation on their progression of their communication and over all behavioral skills. In this research I will be investigating the deficiencies that adults with Rett syndrome compared to other adults with other sever disorders such as autism.
The article Rett Syndrome in Adults with Severe Intellectual Disability: Exploration of Behavioral Characteristics, by Matson et al. from Louisiana State University, conducted a study in which they study the …show more content…
These woman were separated in three equally divided groups: individuals with Rett syndrome, individuals with autism, and individuals on a control group. Four types of testing were conducted on each group first being, autistic spectrum disorder- problem behavior adult (ASD-BPA), which was used to identify problematic behavior, specifically individuals with ASD. Secondly, Vineland adaptive behavioral scales (VABS), designed to assess social and personal functioning throughout the lifespan of the individuals. The evaluation of social skills for individuals with severe retardation (MESSIER), which assesses social skill functioning in persons with severe and profound mental retardation. And last but not least, Rett syndrome behavior questionnaire (RSBQ), this measures behavior symptoms that occur within the individuals with Rett syndrome. These assessments are essential to identify the different behaviors between the

Rett Syndrome Research Paper

Rett Syndrome is a neurodevelopmental genetic disorder identified by Austrian physician Andreas Rett in 1966. It is an X-linked disorder, found in almost exclusively females, affecting one in every 10,000 live births. Nearly all cases of Rett Syndrome are caused by a genetic mutation or deletion of the MECP2 gene. It is hypothesized that an error in the MECP2 gene alters the normal developmental expression in various other genes. The MECP2 gene has been implicated in synapse development and maintenance…

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