Rett Syndrome Essay

When it comes to neurocognitive disorders and neurodevelopmental disorders, reaserchers have been able to diagnose symptoms of a variety of disorders pertaining to the brain and growth development. Once knowing what the symptoms are behaviors become noticed and there becomes a reason for certain behaviors in individuals allowing different treatments for these disorders..

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

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) usually manifests as a severely debilitating neurodevelopmental disorder. This genetic disorder was once classified in the Diagnostic Statistical Manual (DSM IV and DSM IV-TR) as a part of Autism because many of the initial signs of the disorder, such as loss of receptive and expressive language skills, social/pragmatic skills, and stereotypical hand movements are traits expected to be seen in someone with Autism. However, there are key differences between the two disorders, namely the hand movements in Rett Syndrome are not the ones that are typically seen in ASD, children with Rett Syndrome often prefer people instead of objects and enjoy receiving affection from others. (RS.org ref)

Rett Syndrome is a neurodevelopmental disorder often misdiagnosed as autism, cerebral palsy or a developmental disorder. Rett Syndrome affects girls and is characterized by normal early growth and development followed by a slowing of development and loss of hand skills, acquired speech, and slowing of head growth. It affects one in every 10,000 to 15,000 live female births and all races and ethnic groups. Rett Syndrome is not inherited or passed through generations, most cases are considered spontaneous. Most girls will live only to their mid twenties. With recent technology and medicine some girls are able to live up to thirty-five. This disease will leave affected females dependent on caregivers or family members for the entirety of their

The journal articles main focus was to “discus the history, incidence, pathophysiology, diagnostic criteria, disease staging, clinical presentation and physical exam findings, and role of the primary care provider (PCP) as they pertain to care for a child with Rett syndrome (RS). (Briggs, A. 2014) The article begins with Briggs brief introduction to Dr. Andrea Rett, who “observed two females in the waiting room exhibiting similar types of behavior and researched whether or not this pathology has been described” (as cited in Rett,1986). Her discovery would later be named after her. Briggs states that RS is found in 1 of every 8,000-10,000 females and a very small percentage of males (as cited in Saunders, Mainassian, Chow, Zhao & Vincent, 2008).

It is most often characterized by difficulty in the child's ability to respond to people, events, and objects. Responses to sensations of light, sound, and feeling may be exaggerated. Delayed speech and language may be associated. Other characteristics include: impairment in ability to make peer friendships, absence of imaginative activity, stereotyped body movements, persistent preoccupation with parts of objects,

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

“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,

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

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.

Kaufmann (2012) stated the reason for Rett's disorder removal from DSM-5 autism spectrum was due to its nature. Genetic mutation was responsible for Rett's Disorder and the autistic features only appear for a very narrow period of the individual's life. The lack of specific sets of behaviour which defines autistic behaviour prompted the abolishment of Rett's disorder from the current DSM-5. The revision committee of DSM-5 has stated that the DSM is about behaviour rather than the disorder's etiological nature. However, individuals suffering from Rett's disorder displaying autistic symptoms can still be diagnosed and categorized under ASD, with the conditions of Rett's Disorder

Before being recently combined under one umbrella diagnosis of ASD there are a few specific subtypes of ASD (“What is Autism,” n.d.). These distinctive subtypes of ASD are autistic disorder, childhood disintegrative disorder (CDD), pervasive developmental disorder-not otherwise specified (PDD-NOS) and Asperger syndrome (“What is Autism,” n.d.). Childhood disintegrative disorder (CDD) was one of the distinctive subtypes of ASD. In addition, Childhood disintegrative disorder is a rare disorder that typically affects males (Ryan, Hughes, Katsiyannis, McDaniel, and Sprinkle, 2011). Childhood disintegrative disorder (CDD) is defined by a period of time where normal development is occurring associated with an increase in the appearance of Autism Spectrum Disorder related symptoms including loss of motor, social, and language skills and these symptoms usually develop between 3 and 4 years old (Ryan, Hughes, Katsiyannis,

Medications may be used to control seizures, regulate breathing, eliminate problems with abnormal heart rhythm, and relieve indigestion and constipation. Occupational therapy can help children develop skills for performing daily activities (dressing and feeding), while physical therapy and hydrotherapy may extend mobility. Speech-Language Therapy is also used to improve social interaction and teach nonverbal communication. Patients need feeding and physical assistance” (What are the treatments for Rett syndrome?: NIH NICHD). These tie into the complications as well.