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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
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.
So what are the stages of the disorder, there is stage one which is called early onset. This begins at 6 to 18 months, is normally overlooked by doctors because the symptoms are not that noticeable just the slowing of development. Infants show less eye contact and less interest in their toys. There will be delays in their motor skills and crawling, hand writing, decrease in head growth. Th...
Stage one describes the changes that typically appear in the first six to 18 months of the infant's life. These include a general slowness in development; floppiness (hypotonia); difficulty feeding; abnormal hand movements (such as repeatedly making wringing, clapping or washing motions with the hands); lack of interest in toys; poor coordination of
Duane Syndrome is an inherited unusual type of strabismus (squint) most often described by the incapability of the eye(s) to move inwards, outwards individually or together. This was first reported via ophthalmologists Jakob Stilling in 1887 and also Siegmund Türk in 1896. The syndrome was named after Alexander Duane, who explained the disorder more specifically in 1905. The syndrome is described as a miswiring of the eye muscles, causing eye muscles to tighten when they don’t need to and other eye muscles not to tighten when they need to. Very often patients get the syndrome by the age of 10 and it is more common in females (60% of the cases) than males (40% of the cases). Although the eye is usually the abnormality associated with Duane Syndrome, there are other bodily functions that can be affected. Duane syndrome cannot be cured, because the cranial nerve is missing and it cannot be replaced. The gene known as “SALL4” has been associated as a cause of this condition.
For example, our text describes two symptoms of ASD; 1. social communications and interactions 2. and limited patterns of repetitive behavior, interests, and or activities. This was all evident in the “Neurotypical” documentary. For example, Nicholas was unable to interact with girls or form relationships he believes he has nothing in common with them. Wolf suggested that autistic children are good at mimicking others and that nonverbal cues are important to watch out for. Violet, on the other hand, has a habit of repeating behaviors; she will repeat anything her parents say. In the text it also says severity of language problems vary child to child. In Violets case she does not fall under the mute category but instead she is able to speak in a few words, cry, and even laugh. Our text introduces the term for repetitive speech, echolalia. Violet tends to repeat a word or words her parents say either right away when she hears it or later
ALD has many different symptoms; some of the symptoms can be triggered as early as two years or as late as twelve but, the normal symptoms start between the ages of 4 to 10 and can include change in muscle tone, crossed eyes, decreased understanding of verbal communication, detoration of hand writing, difficulty at school, difficulty understanding spoken material, hearing loss, hyperactivity, progressive nervous system detoration, coma, decreased fine motor skills, seizures, and visual impairment or blindness(Lohr, DR. John T). If you recognize or detect any of these symptoms in your child you should immediately take them...
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.
Rett syndrome is a neurological disorder that mainly affects females. According to “The Molecular Pathology of Rett syndrome: Synopsis and Update”, it states that the disorder starts to be recognizable when the child is between six to eighteen months of age. The affected child will loose their ability to speak and hand movements. Through research, MECP2 is in the X chromosome gene (2006). An estimate of females that suffer from Rett syndrome is 1 in 1,000 and in the United States, it is approximately 16,000 young and adult females that are affected (Rett Syndrome, 2008). In my paper, I will give a brief history of how Rett syndrome was first noticed, discuss the dysfunction in the brain, the development and behavior, and possible treatments.
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
Zwaigenbaum, L., Bryson, S., Rogers, T., Roberts, W., Brian, J., & Szatmari, P. (2005). Behavioral manifestations of autism in the first year of life. International Journal of Developmental Neuroscience, 23(2), 143-152.
Sensorimotor stage (birth – 2 years old) – Children begin to make sense of the world around them based on their interaction with their physical environment. Reality begins to be defined.
The Sensorimotor stage – this stage occurs when the child is born till when he/she is two years old.
The topic that im relating my paper with is hergenhahn rationalist approach on the mind and body relationship and how it affects children with autism. Many individuals neglect to realize how our nervous systems make up our perceptions and capacity to respond and adjust to our surroundings in a positive way. Think about your nervous framework and how it resembles a sponge. It always absorbs data through the five sensory organs. Scientists have assessed that our sensory organs take in more than 11 million bits of data consistently and a few appraisals have add up to brain handling at 11 trillion bits for each second. A great part of the sensory data is handled in the part of the brain known as the cerebellum, which is found simply over the neck.
Turner Syndrome was named after a U.S. physician Henry H. Turner. He identified this disorder in 1928 and described the features in the 1930s.
Autism is characterized as a developmental disorder that is seen in children by the age of three years old. Autism affects the brains normal, natural development, and causes many impairments. The major impairments that affect an individual are reciprocal socialization, Qualitative impairment in communication, and repetitive or unusual behavior. Signs of Autism can be seen in early infanthood, with proper awareness and resources. An infant child can appear to be adverse to eye contact early on. Some signs in early infancy appear as being indifferent to affection and physical contact. When spoken to, they can appear to be deaf or ignoring the parent or caregiver. Noticing the early red flags of Autism can provide an early intervention and give the child the best chance at learning to tolerate their environment. Children around three years old will display certain signs and symptoms.
During this stage of development, children continue to develop gross motor skills but most of the development is with their fine motor skills. During this stage children are beginning to learn how to color, use scissors, write, and possibly tie their own shoes. Children will develop hand eye coordination as well as the ability to manipulate objects to accomplish what they want. My development was especially slow in this area. I did not begin to write legible words until I was five almost six years old. I still to this day, cannot cut a straight line and I could not color in the lines until I was about ten years old. I have always struggled with hand eye coordination and anything requiring the ability to manipulate a small object.