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Peer review essay on rett syndrome
Peer review essay on rett syndrome
Peer review essay on rett syndrome
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Rett syndrome is a particular neurological disorder that is first found in the first few months of life and typically almost always diagnosed in girls, but can be seen in boys, rarely, but it is possible (International Rett Syndrome Foundation, 2014). Rett syndrome symptoms soon appear after an early period of regular or near regular development until six to eighteen months of life, when there is a slowing down or stopping of skills. A period of backsliding then follows when the young female child loses communication skills and purposeful use of her hands. Soon, the known physical handicaps became visible such as washing hands, difficulty walking, and head growth abnormalities, the head will grow slower than it supposed to. More symptoms that may be brought on by the syndrome can include seizures and rapid and/or slow breathing repetitions while the child is not sleep. In the younger years of childlife, there may be a time of separation or withdrawal when she is irritable and cries inconsolably. With time, motor skill problems may increase, but in generally, the irritability the child endures lessens and eye contact and communication improve (International Rett Syndrome Foundation, 2014). According to rettsyndrome.org, Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different spots. It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births (Rett Syndrome Foundation, 2014). It is not a degenerative disorder, saying that this syndrome does not cause the body or the mind of the infected child to become weaker. It also causes problems in brai... ... middle of paper ... ...ssible, some improvement can be expected with therapy. Participating in activities -- including school -- and improved social interaction are sometimes possible. Medicines can treat some of the problems with movement in Rett syndrome. Medication can also help control seizures. Unfortunately, there is no cure for Rett syndrome.” (WebMD, 2014). To conclude during research what was found interesting was the fact that this disease mainly infected girls. Not many diseases are based on gender, especially when other types of autism are supposedly boy dominated. Another interesting fact was the different forms of the disease, meaning from mild to severe, most diseases have a basic modem, all symptoms are the same for every person. And one last thing was the countless amount of studies done, that showed a lot experiments were done to learn more about the disease/syndrome.
It was very interesting to learn that those who suffer from autism see the world very different from those who do not have autism. Their over sensitivity to sight and sound must be very difficult for them to deal with and does give good reasoning to their sudden outbursts as children. The over sensitivity to touch also, how frustrating to the parents of these children! This could be a sign of a child not feeling well or having some other type of medical illness so it is understandable how autism was commonly misdiagnosed in the early stages of learning about this medical problem.
Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. www.ncbi.nlm.nih.gov - http://www.ncbi.nlm.nih.gov/.
The scenario presented is the tale of Executive A planning to retire. Leader B and Leader C are in contention to move into the CEO position. When Executive A retires, there will be a change in company performance along with how employees react, as Leader B and Leader C have different leadership styles from Executive A.
Rett syndrome is a postnatal neurodevelopmental disorder that mainly affects girls but is rarely found in boys as well. Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births. It was first identified by Dr. Andreas Rett, an Austrian physician who described it in an article published in 1966. Even though Rett described the disorder in his 1966 article it went another 17 years until being generally recognized after Swedish researcher Dr. Bengt Hagberg published an article about the disorder in 1983 (Rett Syndrome Fact Sheet).
In the United States 54 million people have a disability and only 15 percent were born with a disability (Jaeger & Bowman, 2005). If a person lives long enough, it is statistically likely that they will develop some kind of disability in their advancing years (Jaeger & Bowman, 2005). At some point in your life you could have experience a fractured bone, a minor cut, or had some type of surgery. Imagine after some minor injury that you may not even remember and then experiencing a constant pain so agonizing that no amount of pain medication can make you comfortable (Lang & Moskovitz, 2003). Some additional symptoms that you may also experience are severe burning pain, changes in bone and skin, excessive sweating, tissue swelling and extreme sensitivity to touch (Juris, 2005). These symptoms are associated with a disease that is called Reflex Sympathetic Dystrophy (RSD) but more recently termed as complex regional pain syndrome, type 1 (CRPS 1) (Juris, 2005). For simplification purposes this disease will be referred to as RSD throughout this paper.
But most of the time, counseling and therapy are the primary methods of healing since RAD is a disorder regarding relationships. By consulting a counselor or therapist, the child is being opened up to the possibility of trusting and forming a relationship with another being. Human interaction is seen as one of the best possible treatments. Medications are only used in extreme cases to help with things such as anger management or sleeping issues (Bhandari, 2016). Overall, with enough relationship development and therapy, it is possible for a person to be cured, just like Helen Keller was, once she developed trust in a relationship with Anne.
Turner’s syndrome is a genetic conditions that affects the female’s sex chromosome. In (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/) Turner’s syndrome occurs when cells are missing all or part of an X chromosome. It’s common of the female patient to only have one X chromosome. Although, some individuals may have two X chromosomes but one is defective. It is thought that an estimated 1 out of 2000-2500 females suffer from this genetic condition worldwide but it’s usually females with this condition don’t survive their birth. Due to this abnormality, the genes that is defective “affect the growth and sexual development of the female” (http://learn.genetics.utah.edu/content/disorders/whataregd/turner/). However other disabilities and delays do occur even though these traits can vary case by case.
Rett syndrome is a progressive neurological disorder that affects almost exclusively in females. The most basic symptoms include decreased speech, cognitive disabilities, severe lack of muscle control, small head size, and unusual hand movements. A woman with a mutation in her MECP2 gene, has a 50% risk with any pregnancy to pass on her X chromosome with the mutation. It is not common for women with Rett syndrome to have children because the severity of the disorder. The mutated gene on the X chromosome that is responsible for causing Rett syndrome is the methyl CpG-binding protein 2, MECP2 gene. The gene makes a protein that controls other genes. When a mutation occurs in the MECP2, the protein it makes does not work properly. This is thought to counteract normal neuron, nerve cell development. The severity of the syndrome in females is related to the type of mutation in the MECP2 gene and the percentage of cells that carry a normal copy of the MECP2 gene. Rett syndrome is believed to affect all ethnic groups and nationalities with an equal frequency of about 1 case for every 10,000 to 15,000 live female births.
The paper that I’m writing is on Rett Syndrome. Rett is a rare and severe ‘girls only” form of autism. What is Rett you ask? Well it is neurodevelopment that is found in girls. If you are diagnosed with it they can feel overwhelmed, there is no cure for this disease. You are normally diagnosed with it in the early years (first 2 years of life). There are 4 stages of Rett 1 being the least dramatic case and 4 being the severe. The disorder was identified by Dr. Andreas Rett in 1966, but was not until 1983 when it was started to be researched by Dr. Bengt Hagberg. Apraxia is perhaps the most severely disability of Rett Syndrome that interfering with movement and speech, and eye sight.
Autism is a neurodevelopmental disorder that effects the brains development. It is characterized by affecting communication, cognition and social interaction. The spectrum of the disorders ranges from a mild condition called Asperger’s syndrome to a more severe form, which severely impairer’s development. The Office of Communications and Public Liaison states that the disorder affects one and eighty-eight children, however ASD effects boys more frequently than girls (Office of Communications and Public Liaison, 2013). ASD emerges in all age, ethnic and socioeconomic groups. The significant varied character and severity of the disorder is why ASD is considered a spectrum that poses a broad range of symptoms.
Because autism symptoms vary in degrees and severity, autism is considered a spectrum disorder; each individual falls somewhere within the spectrum depending on their specific symptoms. Though autism affects a small percentage of children, the number of those affected is on the rise. There are different types of autism including Asperger’s, a mild form of autism in which the individual affected becomes obsessive over interests, and Rett syndrome which affects mostly females and is marked by the loss of communication skills. Asperger’s is on the higher
There is no known single cause of autism. Researchers are investigating a number of possible theories including genetics, heredity, medical problems, problems during pregnancy or delivery, as well as environmental influences. It is widely accepted that it is caused by abnormalities in the brain structure or function. There is evidence from neuropathological studies that autism has its origins in abnormal brain development early in prenatal life which continues postnatally, showing acceleration in brain growth measured by head circumference (Zwaigenbaum, L., Bryson, S., Rogers, T., Roberts, W., Brian, J., & Szatmari, P., 2005). The disorder also seems to have a genetic basis, although researchers have yet to find the specific genes that link to the onset of autism. There could be a cluster of genes that have somehow interfered with normal brain development and function. Studies show that twins of children with autism were more likely to be autistic themselves than the regular population, demonstrating there is a heredity lin...
Understanding autism, which is professionally known as Autism Spectrum Disorder, otherwise known as (ADS) can be a difficult task, especially for someone who is not trained in helping persons with disabilities. The first person to discover autism was a child psychiatrist, Dr. Leo Kanner in 1943. He names the spectrum disorder after the Greek word autos, meaning of or for oneself, due to the way the child display social avoidance. Many doctors’ believed in the past that autism was caused by the way the mother not caring for her child properly or ignoring him or her. There was also a time when it was thought to be caused by certain environmental stresses that cause neurological issues within the brain. Autism is one of the most misunderstood
Turner Syndrome is a disease where only girls/women are affected. Basically this disease is when a sex chromosome is or is partially missing. This can result to short height, failure to start puberty and normal time, infertility, heart defects, learning disabilities, and social adjustment problems. Turner sydrome can be diagnosed before birth, during infancy, or early childhood. Often times it is diagnosed in later teen years to even early adult. All women that have the disease normally need ongoing medical care to stay healthy.
Rett Syndrome is a neurological and developmental disorder that affects the nervous system. It occurs almost exclusively in females, but in rare cases it affects males. It is actually the leading cause of severe impairment, mental retardation and developmental regression in girls. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive, and that begins in early life and influences multiple areas of development. It is a developmental disorder, not a degenerative disorder and is characterized by problems in brain function that are responsible for cognitive and autonomic function. It affects a lot of functions including learning, speech, sensory sensations, movement, breathing, cardiac