Asperger’s Syndrome Today there are many different types of disabilities and syndromes. When you have a child to be diagnosed with a disability or a syndrome life can suddenly become overwhelming. This is especially true if they have been diagnosed with Asperger’s Syndrome. Parents sometimes feel guilty because their child has a disability or syndrome. Parents may feel that they are responsible for their child’s disability or syndrome. Parents may feel guilty about their child being diagnosed
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14 November 2011 Outline INTRODUCTION Thesis Statement: Although Down syndrome is used as a general term‚ several forms of this syndrome exist. I. Diagnosis A. Discovery B. Cause II. Types A. Trisomy 21 B. Translocation C. Mosaicism III. Expectations From Therapy CONCLUSION Down syndrome Lot’s of people fail to realize that several forms of Down syndrome exist. “Down syndrome is a set of mental and physical symptoms that result from having an extra copy
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is like that. Have you ever heard of something called Marfan syndrome or MFS? It is a genetic disorder that about one in every five thousand people have and there is a fifty percent chance that it can be passed on to the next generation ("What Is Marfan Syndrome?"). Marfan syndrome is an abnormal condition characterized by elongation of the bones‚ and abnormalities in the cardiovascular system and the eyes (Hamilton). Marfan syndrome is a genetic disorder that can be inherited from ancestors and
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Case Discussion Beal’s syndrome (OMIM # 121050) is a disorder of connective tissues. The syndrome was first explained by Beal’s and Hecht in 1971. It is inherited as an autosomal dominant disorder that is characterized by multiple flexion contractures‚ arachnodactyly‚ severe kyphoscoliosis‚ abnormal pinnae and muscular hypoplasia. It is caused by a genetic mutation in FBN2 gene (encoding the extracellular matrix micro fibril fibrillin 2) on chromosome 5q23. The FBN2 gene provides instructions for
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Inside Rett Syndrome Christina Wenn April 10‚ 2013 Rett syndrome is a genetic disorder that I have dealt with first-hand. I babysat a set of twins in my neighborhood‚ and one of the twins‚ Morgan‚ was diagnosed with Rett syndrome as an infant. I started babysitting the twins‚ Morgan and Ryan‚ when I was a freshman in high school‚ but I mainly took care of Morgan. She would giggle and smile‚ but other than that she was mute. Morgan ate baby food and watched Disney movies. She also wore a diaper
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Angelman Syndrome By Ciera Carr Dr. Glimps 2006 Carr 1 Ciera Carr Dr. Glimps Research Paper Angelman Syndrome Angelman syndrome is a genetic disorder that is caused by a couple of different attributes. The first one is “a deletion on chromosome 15 of maternal origin or paternal uniparental disomy”(Curfs‚ 2004‚ p. 1263). There has also been found that some people with the disorder have no deletion on the chromosome at all. Angelman syndrome was first discovered in 1965 by a doctor
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Introduction This paper will explore the case study of Suzanne‚ an independent living 25-year-old woman with Downs Syndrome that presents with progressively worsening congenital heart and lung abnormalities. She has been referred to a transplant center to be evaluated for a possible heart-lung transplant. The transplant center will be in charge of determining whether or not she will be able to handle her post-transplant care. In order to make this determination‚ “A Guide to Moral Decision Making”
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Myelodysplastic syndromes have historically been subjected to incomplete definitions and biologic understanding of disease.1‚2 With the better understanding of this disease by morphology‚ cytogenetic evaluation and molecular testing it is now easier to categorize this disease. Myelodysplastic syndrome could not be described as a distinct syndrome until the first half of the 20th century when bone marrow biopsies were started in routine. Still‚ early suggestive reports can be found in the medical
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22q11.2 deletion syndrome‚ several tests have to be conducted in order to determine if this is in fact the cause. With our proband‚ it is clear that this is a case of familiar inheritance. As a clinician‚ is it important to start by asking about the patient’s current and past medical history‚ history of present illness‚ developmental and social functioning and obstetric history so we can get a more in depth understanding of the patient’s presentation (“22q11.2 Deletion Syndrome”‚ 2016). A physical
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conducted around the topics of crush syndrome and amputation‚ which depending on the severity of the crush can coincide with one another. This paper will discuss various medical aspects‚ treatment‚ assessment‚ psychosocial/psychological issues and some research data pertaining earthquakes related to amputation and crush syndrome. Crush injuries can occur through the means of a natural disaster‚ acts of war‚ traffic collisions‚ as well as industrial accidents. Crush syndrome differs from a crush injury depending
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