DiGeorge Syndrome: A Study in Chromosomal Errors DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted‚ causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth‚ presence of "cleft" palate (opening in the roof of the mouth)‚ learning disorders‚ autoimmune diseases (such as rheumatoid arthritis)‚ hypocalcaemia (low presence of calcium in blood)‚ speech disabilities
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Disability Definition: One in every 2‚500 individuals is diagnosed with Tourette’s syndrome. This syndrome is defined as a neurobiological disorder that is characterized by involuntary motor and vocal movements. These are called tics and tics are one of the main defining characteristics of the disorder.{1} Those who have tics usually can experience social‚ academic‚ behavioral‚ and emotional problems due to the inability to control their bodies. Some tics that are often experiences are eye rolling
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Genetically transmitted disease Down syndrome Down syndrome is a genetically transmitted disease‚ the symptoms of this disease can vary depending on the person‚ but children with Down syndrome have unique physical characteristic traits for example: decrease in muscular tone‚ excess skin around the nape‚ widened nose‚ among others. Some mental characteristics are: impulsive behavior‚ short periods of attention and slow learning. Some of the disease’s effects are: pulmonary hypertension
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Patient C is a male with Patau’s syndrome. This syndrome is also referred to as trisomy 13. It is caused by a chromosomal abnormality‚ in which some or all the cells in the body contain extra genetic material from chromosome 13. The chromosomal condition is often associated with a severe intellectual disability and several physical abnormalities. Patau’s occurs in about 1 in 16‚000 infants. Women of all ages have a chance of giving birth to a child with this condition‚ but the risk increases as
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Research Paper 2: Angelman Syndrome Angelman Syndrome (AS) also known as Happy Puppet Syndrome was originally founded in 1965 by an English physician named Dr. Harry Angelman. (NORD 1) According to the Genetics Home Reference‚ “AS is a complex genetic disorder that primarily affects the nervous system”.While exact numbers are unknown due to the fact that some cases are misdiagnosed as cerebral palsy or Autism‚ it is believed that about 1 in 15‚000 people have AS‚ ( Genetics Home Reference 2)
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Commonly confused with Autism‚ Asperger’s Syndrome is a type of pervasive developmental disorder (PDD). These types of disorders (PDD) have delays is the development of basic skills such as‚ the ability to socialize‚ to communicate‚ and to use imagination. Children with Asperger’s typically have normal intelligence and language development‚ but these could change as they get older. This disorder was declared official in 1944 by an Austrian doctor‚ Hans Asperger. How is Asperger’s different from
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possess exceptional skills suggest that a definition of the savant syndrome be further critiqued. This study also assisted in the search for a correlation between autism and special talents‚ and used sensory processing in talented relative to non-talented individuals with ASD to act as a stepping stone for further research on this topic. Overall‚ it is clear that this study is crucial in discussing the definition of savant syndrome and differentiating it from symptoms of ASD. I feel that the results
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Ieva Baranauskaite Melinda Bechtell CMI 352 13‚ May‚ 2016 Dandy walker syndrome Dandy Walker syndrome (DWS) is a congenital brain defect that occurs in the cerebellum and the brain of the fourth ventricle during the first trimester. It is a genetic disorder and affects infants and children. Reason for the Dandy-Walker syndrome child’s presence is teratogenic factor‚ which adversely affect fetal development. There are‚ at present‚ three identified types of Dandy–Walker complexes. These represent closely
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Asperger’s Syndrome and Social Interaction One of the major challenges in dealing with Asperger narcissism is the social problem‚ which comes along with it. Asperger’s Problem affects your head’s ability to read the world just how everyone else does‚ particularly when it comes to other folks. Connections and natural conversations often develop into a chore‚ and hence produce both the Aspie and individuals they’re trying to socialize with reluctant to try to overcome the difficulties. Miscommunication
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Asperger’s Syndrome - How Can I Help My Child Understand Subtle Speech Patterns Like Sarcasm? Asperger’s syndrome is a neurological disorder. Which means that it’s something you are born with. You cannot catch Aspergers‚ or could you "cure" it. Asperger child often has difficulties in the communications area. An "Aspie" as someone with Aspergers is frequently called‚ may tend to employ a literal interpretation of language. An important reason for an Aspie’s issues with social functioning could be
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