Symptoms Of Rett Syndrome ( Rtt ) Usually Manifests As A Severely Debilitating Neurodevelopmental Disorder

Autism Spectrum Disorder is a growing problem throughout the entire globe. Autism Spectrum Disorder is defined as deficits in social reciprocity and communication, as well as unusual, restricted and repetitive behaviors (Lord). Such behaviors may include running back and forth, excessive cleaning, noises, and clapping. These also vary greatly with age and ability, and the notion of ASD has been introduced to recognize these diversities (Firth). Autism was first discovered in 1943 when Leo Kanner observed 11 children with several common traits such as, impairments in social interaction, anguish for changes, good memory, belated echolalia, over sensitivity to certain stimuli (especially sound), food problems, limitations in spontaneous activity,

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

Rett’s Syndrome (once under the ASD umbrella) a condition only observed in female children to date, and is characterised by normal language and social development until the child is aged between one and four years old, which results in loss of all skills gained and then ultimately needing care 24 hours a day, has been removed from the ASD umbrella.

They appear unaware of others ' feelings toward them and of the negative impact of their behavior on other people. Many children with autism engage in repetitive movements such as rocking and hair twirling, or in self-injuring behavior such as biting or head banging. They also tend to start speaking later than other children and may refer to themselves by name instead of "I," or "me." Some speak in a singsong voice about a narrow range of favorite topics, with little regard for the interests of the person to whom they are speaking. People with autism often have abnormal responses to sounds, touch, or other sensory stimulation. Many show reduced sensitivity to pain. They also may be extraordinarily sensitive to other sensations. These unusual sensitivities may contribute to behavioral symptoms such as resistance to being cuddled. Autism is classified as one of the pervasive developmental disorders.

The MECP2 gene contains instructions for the synthesis of a protein called methyl cytosine, combining protein two (MECP2) , which affects brain development and acts as a biochemical switch to increase gene expression or tell other genes to turn off and stop producing their own unique protein. Not everyone who has a MECP2 mutation has Rett Syndrome. Scientist have identified mutations in the CDKL5 and FOXG1 genes in individuals as atypical or congenital Rett Syndrome. In some families of individuals affected by Rett Syndrome, there are other female family members who have the mutation of the MECP2 gene but do not show clinical symptoms. The females are known as “asymptomatic female

This gene is believed to be able to control the function of several other genes. This wasn’t discovered until 1999. The MECP2 gene is believed to contain instructions for the synthesis of a protein called methyl cytosine binding protein 2. This protein is responsible for the development of the brain and acts as one of the many biochemical switches. This can either increase gene expression or it can tell other genes to turn off and stop production of their own unique routine. Since the gene doesn’t function properly with those who have Rett Syndrome, they have an insufficient amount or structurally abnormal forms of proteins produced. This can cause other genes to be abnormally

“From my Friend” is a great story about a young girl and her life from grade school all the way to college. This young girl happens to have a syndrome known as Rett syndrome. I chose this piece over, “An A is an A,” because I found the syndrome more interesting to learn about. While doing some research on Rett syndrome I discovered a lot of things that I never knew at all about the syndrome. Rett syndrome is a rare, but severe brain disorder that affects girls. It is usually discovered in the first two years of life. There is no cure, but early detection and treatment can help the victims and families with coping with this syndrome. The symptoms that come along with Rett syndrome are loss of muscle tone, loss of any purposeful use of hands,

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.

TAR syndrome is caused by an absence of the 1, 1q21.1 chromosome. This deletion is also found in 32% of unaffected family members. (Thomas, 2008) Because of the unaffected family members it indicates there must be an additional modifier to cause a diagnosed patient. “In 2012, it was discovered TAR syndrome was a recessive condition,” and instead of deleting the entire chromosome “it only partially removes the production of the protein Y14.” (Weisksner, 2012) So this is