Fragile X syndrome

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    Angelman Syndrome

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    Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs…

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    If a child is suspected to have a developmental delay they will be evaluated. These skills are age related and will vary by age. The evaluations will take place in such areas as gross motor skills, which encompasses the usage of large muscle groups for movement. These movements include walking, running, and sitting. Gross motor skills are also important for balance. Fine motor skills are motor movements that use smaller more refined muscle movement. These would be using pincer skills needed to…

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    Mckenzie's Case Study

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    Imagine a charming, bouncing baby girl named McKenzie. She has a head full of hair and angelic blue eyes. McKenzie’s parents were so overjoyed with her progress especially since she was developing accordingly. She uttered her very first word at twelve months and stood up for the first time, not long after just three months later. McKenzie was the referred to by her parents as "the perfect baby", until five days following her third birthday. McKenzie began to lose her words. She was no longer…

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    Williams Syndrome Essay

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    Overview: What is Williams Syndrome? Definition: Williams Syndrome is a genetic disorder, resulting from the deletion of 26 or more genes one chromosome number 7 (Mervis et al., 2000). That seemingly small loss can affect numerous parts of a person’s physical and mental health, as well as social behavior and sensory perception (Genetics Home Reference, 2014). Diagnosis: Williams Syndrome is a genetic condition that a child is born with and it can impact a child’s prenatal development as well…

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    Harry Angelman Syndrome

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    In 1965 Harry Angelman reported clinical findings in three children with similar, unusual, attributes. These children had what was known as “happy puppet” syndrome, but was later changed to Angelman syndrome, due to its pejorative name. Angelman syndrome is a neurodevelopmental disorder distinguished by: severe learning difficulties, ataxia, jerky movements, epilepsy, speech impairments, hypopigmentation in the hair and the skin with blue eyes, subtle dysmorphic facial features, and happy and…

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    Adrienne Bashista Speech

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    The speaker Adrienne Bashista gave a very insightful speech about what Fetal Alcohol Syndrome is and how it is caused. Before our speaker told us about her son, I had very little knowledge about what FASD was. I now realize how severe FASD is and how even the slightest consumption of alcohol can affect a fetus during pregnancy. I became aware that FASD is a rare syndrome that only 2 to 5 percent of the population have. This statistic surprised me due to a large amount of woman who may drink when…

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    Williams Syndrome (WS) is a rare genetic disorder that affects approximately 20,000 people in the United States. This condition is present at birth. The causes of Williams syndrome is due to the deletion of 26 plus genes on one of an individual’s chromosome #7. Individuals born with Williams syndrome share a number of common neurological, medical, and behavioral characteristics as well as common facial…

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    When people think of the definition of different, some people may think of someone with a disorder, such as autism spectrum disorder. However, as different as people think autism spectrum disorder is, it is not as different as people believe. In fact, autism is becoming more common today than it ever has before. It is just a disorder that is not well known as of yet. In order to have an idea of what autism spectrum disorder is, the first step is understanding what autism spectrum disorder is.…

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    Angelman Syndrome Description of the Disease An extremely rare and uncommon disease known as Angelman Syndrome is a very complex neurodevelopmental and monogenic disorder (Bailus, 2014). The term neurodevelopmental refers to the shape, reshape, state and generation of the nervous system during the embryonic stages of life, while the term monogenic can be explained as a disease, which is controlled and inherited, by a single pair of genes (Gentile, 2009). It is estimated that Angelman Syndrome…

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    To demonstrate, “Malcolm X delivered "The Ballot or the Bullet" to a predominantly African-American meeting in… the Congress of Racial Equality …which was shifting from nonviolent protest to Malcolm X-like black nationalism. Helping provoke this shift were speeches like this one, which was received enthusiastically” (Miller). Many African Americans came to Malcolm’s speech because they really wanted to know what he meant by the “ballot” and “bullet”. By the end of his speech, Malcolm wanted that…

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