Rett's Syndrome Research Paper

Autism is a complex developmental disability that causes problems with social interaction and communication. Symptoms usually start before age three and can cause delays or problems in many different skills that develop from infancy to adulthood. Disorders included in the Autism Spectrum are Autistic Disorder, Asperger’s Syndrome, and Pervasive Developmental Disorder Not Otherwise Specified. Rett’s syndrome and Childhood Disintegrative Disorder are among the list of related disorders, but are not included in this spectrum. There are no treatments bio-medically,

We are living in a time where a remarkable and advanced medical treatments exist. However, scientists and medical professionals are constantly faced with diseases and disorders that contemporary humanity needs a cure and treatment. Amongst the disorders that affecting our young people today is the autism spectrum disorder. It is a “complex and life long behavioral disorder marked by impairment in social and communicative abilities”(Evans, et al., 2008). People living with autism range from those with high IQ’s to those with intellectual retardadtion.

There are also five subtypes of the autism disorder. These three are called Classic Autism, Asperger’s Syndrome, Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS), Rett’s Syndrome, and Childhood Disintegrative Disorder (2). The mild end of the spectrum is the more manageable side of ASD. Generally speaking, most people with autism fall under the “mild” category (typically called Asperger’s). People on the mild end of the spectrum are also occasionally called “”hiparagpa functioning”. The functionality of those with classic autism ranges from high to low respectively depending on the environment they are living in. Rett’s Syndrome usually afflicts females, and have a functionality range from moderate to low; it should be noted that this disorder develops as the individual ages. Individuals may be diagnosed with PDD-NOS if they meet some of the criteria for autism, but not all. Usually these people are high functioning. The severity and subtype is initially determined at the diagnosis stage, but it can potentially change over the course of several years depending on how dedicated the family is

Chapter 1 focuses on autism, Pervasive Developmental Disorders (PDDs) and other Autistic Spectrum Disorders (ASDs). Described in 1943 by Dr. Leo Kanner, autism (also known as autistic disorder, childhood autism, or infantile disorder) is one of the PDDs along with Rett's disorder, Childhood Disintegrative Disorder (CDD) referred to as Heller's syndrome, Asperger disorder, and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). Rett's is a rare genetic abnormality affecting brain development in girls. There are treatments available, but there is no known cure. Asperger disorder affects an individual's ability to socialize and communicate effectively. Individuals with Asperger disorder may be socially awkward and have a compulsive

Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene found on the X chromosome; it have been thought that RTT was exclusively found in females, but a limited number of males with RTT have been reported (Renieri et al, 2003). Unlike females, who have two X chromosomes, males only have one X-chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a faulty one, RTT is often fatal to males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding protein 2 (MeCP2), which is

Rett syndrome is considered one of the autism spectrum disorders. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive, and that begin in early life and influence multiple areas of development. Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in

Approximately 1 in every 10,000 infants in the United States is affected with Rett syndrome (RTT), an X-linked neurodevelopmental disease. (Jin, Chen, & Xiao, 2017). Nearly all RTT patients are girls as the mutation on the male’s single X-chromosome tends to be prenatally lethal. The disorder was first described by Andreas Rett in 1966 and is characterized by apparent normal development for the first six to eighteen months of life, followed by the loss of intellectual functioning, acquired fine and gross motor skills, and the ability to engage in social interaction (Krishnan, Krishnan, Connors, Choy, Page, Peti, Van Aiest, Shea, & Tonks, 2015). Other clinical manifestations include seizures, disturbed breathing patterns with periodic

Neurological disorders are complex in nature and often the least understood. Given the recent boom in imaging technology and other diagnostic methods, it is now possible to see more clearly into the scope of neurological development and accurately determine the etiology of these diseases. One of such disorders is Autism; a multifactorial condition impairing normal brain development. It affects many aspects of development, including social behavior, cognitive ability and communication skills1 and is commonly diagnosed in children before the age of three1. The symptoms of this condition can vary greatly between individuals; hence its classification as a spectrum disorder. Asperger syndrome, Rett syndrome and pervasive

Asperger’s Syndrome is a pervasive developmental disorder that often presents itself in children during the elementary years. It is characterized by deficits in social interactions, normal developing language, fixation with specific objects, and average or above average intellectual functioning. It is highly debated over whether Asperger’s Syndrome is qualitatively different than high functioning Autism. Symptoms of Asperger’s Syndrome will present themselves in a variety of ways that are unique to each individual child. Within

We often hear about people with autisms and Down’s syndrome, but how often do we hear people talk about Rett

The most common, or correct diagnosis can be made through a blood test(s) to identify the mutation of the MECP2 gene. However, many other diseases or disorders also include MECP2 gene. So this tactic alone is not enough to ensure the presence of Rett Syndrome. With this, some children with rare cases don’t acquire the mutation of MECP2. This makes it even more difficult for doctors to diagnose Rett. A child may have to take therapy or be assisted, but most will be able to participate in school or community

Rett syndrome is classified as a serious and lifelong, rare, non-inherited genetic, postnatal, neurological disorder that occurs almost entirely in girls and leads to severe impairments. It affects nearly every aspect of the child’s life including their ability to speak, walk, eat, and even breathe easily. The trademark of Rett syndrome is the constant repetitive hand movements, such as hand washing, hand wringing, hand tapping, hand clapping and hand mouthing.

Although Rett disease is a well known disease, it wasn’t always like that. A neurodevelopmental pediatrician, Andreas Rett, was the first to recognize the syndrome and promoting awareness in Europe in 1965. To dismay, Rett wrote his book in German and wasn’t circulated circulated throughout the region. Years later, Begnt Hagberg, a Swedish neurologist, had seen some repeated symptoms in his patients. In the late 1970s, Hagberg attended a meeting of neurologists, “Bengt raised this clinical issue and was informed of Andy Rett’s publications in Vienna regarding girls with similar hand stereotypies, as well as a recent publication of Andy’s in the Handbook of Clinical Neurology that described RTT but associated it with hyperammonemia.”(Percy, 2014). Hagberg meant with Rett and wrote his paper about the syndrome. Now written in

associated with autism but children that are not autistic can experience it, too. Children who have

This study was done by Neul et al. to better understand the developmental patterns of Rett syndrome. It was designed and executed to learn more about typically developing Rett syndrome with a normal regressive pattern in comparison to atypical Rett Syndrome. This study was restricted to females under the age of ten to better assess the parental questionnaire portion of the study. The authors of this article looked to find patterns within the development of certain skills. Since many of these skills are lost later on in development, the authors began to look at the variation in the gene mutation and how it affects within syndrome variability in Rett syndrome. (Neul, et al. 2014).