Rett syndrome Essays

confirmed Rett cases was 1,250. It wasn’t until 1999 that the MECP2 gene was discovered on the X chromosome by Ruthie Amir (1988). The National Organization for Rare Disorders (NORD) recognizes Rett Syndrome as having two basic forms: classic Rett Syndrome, and a milder form, atypical Rett Syndrome. Both are caused by various genetic mutations with the most prevalent one being a mutation on the MECP2 gene. Signs and symptoms of the disease can vary among those affected. In classic Rett Syndrome, typically

Rett syndrome (RTT) is a neurodevelopmental disorder that affects girls almost exclusively. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. The disorder was identified by Dr Andreas Rett, an Austrian physician who first described it in 1966. It was not until after a second article about the disorder

Rett Syndrome, a rare, non-inherited, genetic, neurodevelopmental disorder. It exclusively affects girls as young as six months. An Austrian doctor by the name of Andreas Rett originally described the disorder in a journal article in the year 1966. The disorder was not recognized as a disorder until the year 1983, when a Swedish researcher by the name of Dr. Bengt Hagberg published the disorder. Rett Syndrome almost always affects girls; it is rarely seen in boys. The disease is a mutation of the

Asperger syndrome, Non-specific persuasive developmental disorder, rett syndrome, and childhood disintegrative disorder (”Autism”). “Asperger syndrome is a milder form of classic autism in the fact that “there is no delay in language or cognitive development (Di Napoli).” Non-specific persuasive development disorder is a group of children who dont quite fit in the criteria for the other types. Rett syndrome is a neurodevelopmental disorder which causes problems with movement and speech. Rett syndrome

Patient’s safety is essential during hospitalisation and it is everyone concern. It is because, hospital is a place where patients’ injuries are treated, not generated. However, unintentionally injuries may be happen while in the care in the ward. The challenge for nurses are to ensure safety while giving nursing care to them. Falls are the common accidents occurred in ward. This lead harm to patient and emotional stress to the family as well. Throughout my clinical posting, there was an incident

Angel is an 18yo, primigravida, who is currently 29 weeks 4 days as dated by LMP consistent with a 17 week ultrasound performed in an emergency room in North Carolina. She did not have any PNC until 28 weeks due to her move from North Carolina to Tennessee and difficulty with insurance. She has a history of drug use involving benzodiazepines and THC. Once she found out that she was pregnant, which was early on, she stopped using anything. She has had no drug use, per her report, since early first

What is Autism spectrum disorder and Asperger’s Syndrome? ASD (autism spectrum disorder) is a mental illness present in early childhood that impairs a person’s ability to communicate and interact with people. There are many forms Autism such as Rett syndrome, childhood disintegrative disorder, pervasive developmental disorder-not otherwise specified (PDD-NOS) and Asperger syndrome (www.Autismspeaks.com). Asperger syndrome is considered to be on high functioning end of the autism spectrum. People

Imagine going through all of elementary school and high school and not being accepted for being different. A lot of people with autism go through this. People without autism do not realize the difficulties people with autism have. They do not realize that children with disabilities notice when people do not accept them for being different. Some people do not give them and adults the chance to show their talents and who they are because they are different. The thing is, people who do not deal with

some 70 years ago, but its prevalence and frequency as a diagnosed condition has increased more recently. Because many syndromes and other related conditions comprise the commonly known “spectrum,” addressing autism can be a challenge. “Autism spectrum disorder (ASD) and autism are both general terms for a group of complex disorders of brain development. They include Rett Syndrome, childhood disintegrative disorder, pervasive developmental-disorder- not otherwise specified (PDD-NOS) and

primarily genetic in origin. Involvement of epigenetic regulatory mechanisms in the pathogenesis of ASD has been suggested by the occurrence of ASD in patients with disorders arising from epigenetic mutations (fragile X syndrome) or that involve key epigenetic regulatory factors (Rett syndrome). Moreover, the most common recurrent cytogenetic abnormalities in ASD involve maternally

autism, Asperger syndrome (AS), pervasive developmental disorder-not otherwise specified (PDD-nos), as well as childhood disintegrative disorder and Rett syndrome. All disorders differ with regard to symptom severity and early development of language, cognitive and social behavior. However, all five disorders

The developmental challenge that is becoming more common is Autism Spectrum Disorder (ASD). ASD is a disorder that affects the child’s social interactions and their ability to see someone else’s perspective as well as their motor skills (Berger, 2015). The age range at which this is arising is during the elementary school years: six years to 11 years. Professionals are able to evaluate children with ASD to see how this disorder really affects them. Does it just affect them mentally or does it have

Brad Cohen has Tourette syndrome since he was six. Tourette syndrome is known as neurological disorder where people made strange noise, twitches and uncontrollable movements ("Tourette Syndrome Association of Australia is a registered charity to support families and individuals understand and manage Tourette Syndrome.", 2016). Since he was young, his father constantly felt annoyed by this tics and his involuntary movements. He did not really acknowledge Brad for who he was. His mother, on the other

A Rare Disorder called Angelman Syndrome This research paper will discuss a specific disability called Angelman Syndrome. (AS) This Syndrome is a disorder, and can be diagnosed at an early age. AS don’t have a cure, but there are ways to treat this disorder. While reading this paper, you will become aware of the causes, characteristics, diagnoses, assessments and academics of Angelman Syndrome. By the end of the paper you will be able to understand how this disorder affects children and educators

The rare condition Prader Willi Syndrome affects 1 in 10,000 to 30,000 people worldwide. Although this is considered a rare condition it 's actually one of the main reasons there are so many obese people today. “PWS affects males and females in equal numbers and occurs in all ethnic groups and geographic regions in the world. Most estimates place the incidence between 1 in 10,000-30,000 individuals in the general population” (Butler n.p.). Prader Willi Syndrome was discovered in 1956 after Andrea

much sense to me until later on. The whole appointment lasted almost two hours, but it was a very educational two hours, because in the end I found out that I not only had Scoliosis, but that I also had Ehlers Danlos Syndrome (EDS). There are three main types of Ehlers Danlos Syndrome, and I have the hypermobility type. It’s essentially a problem in your body that doesn’t allow you to produce collagen correctly. Unfortunately that affects the way my

Jonathan, a seven and a half year old boy is a social second grader who has normal intelligence. However, Jonathan was diagnosed with spastic cerebral palsy and has dysarthric speech patterns. With spastic cerebral palsy, Jonathan has difficulty regarding his motor control and movement. Confined to his wheelchair, Jonathan works independently, separate from his classmates. Jonathan cannot produce clear speech, his dysarthric speech pattern prevents him from speaking freely in the classroom and

It not so much only the fact that within the story people cannot communicate with each other because of the different language they speak, but it becomes clear how much effect prejudices have on people. Juan Pellicer calls this “a Babelian syndrome: broken communication, misunderstandings, isolation both on the global level as well as in the intimate realm of relations between children and parents, particularly with the consequences of separation and deafness” (Pellicer 240). People are so used to

The expression "pervasive formative issue," likewise called Pdds, alludes to a gathering of conditions that include postpones in the advancement of numerous fundamental abilities. PDD incorporate a few that are described via impeded equal social communication, unusual dialect advancement and limited behavioral collection. There are five sorts of pervasive improvement issue: • autistic issue • asperger's confusion • rett's confusion • childhood disintegrative issue (additionally called disintegrative

In a layman’s term, advocacy is the move to make the voice of the marginalised and vulnerable people heard. Everybody have rights and needs that must be met but some group of people, due to their inability or difficulty to voice out their minds, are unable to meet these needs or demand for their rights and entitlements; when it comes to making decisions that pertain to their lives, their voice and feelings are (sometimes) being ignored and they are treated as if they do not exist. Advocacy is the