Fragile X syndrome

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    Fragile X syndrome is defined as a genetic condition that causes intellectual disabilities, behavioral and learning challenges and various physical characteristics. This syndrome, being a genetically heritable disease, is X-linked. This makes the disease more commonly observed in males than females, about two to one. Males have roughly a one in four thousand chance of getting the syndrome and females have about a one in eight thousand chance (Bostrom). Some general characteristics can be seen as Low muscle tone, hyper extensible joints, high arched palate, connective tissue issues. They can also have mild facial dysmorphia seen as an elongated face, large ears, prominent jaw, and soft skin (Dean). Fragile X syndrome represents the most common cause of intellectual disabilities and is the leading cause of…

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    Fragile X Syndrome (FXS)

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    Fragile X syndrome (FXS) is identified as the leading monogenic cause of autism and congenital mental retardation. It is estimated that the frequency of FXS is 1/7000 males and 1/11,000 women (Hunter et al., 2014). In Australia, since one child is born with Fragile X every week, around 1 in 3600 boys and in 4000 – 6000 girls suffers this syndrome with the higher severity in boys. Position of the causative gene for FXS named fragile X mental retardation gene 1 (FMR1) was found at the diagnostic…

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    Fragile X Syndrome

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    Fragile X syndrome or Martin Bell syndrome is a genetic passed disease that affects the early devolvement of the brain that causes mental retardation and has many of the same physical appearances. Fragile X affects males more often than females. This inherited disease is extremely rare and affects 1 out of 5000 kids. This syndrome is caused by a mutation on the X chromosome more specifically the FMR-1 gene that generally affects the early devolvement of the brain. Many symptoms of this disease…

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    Fragile X Syndrome (FXS) is a type of triple repeat disorder that is prevalent in both males and females. FXS is inherited and causes the person to have an intellectual disability (Batshaw, Roizen, & Lotrecchiano, 2013). References Batshaw, M.L., Roizen, N.J., & Lotrecchiano, G.R. (2013). Children with Disabilities (7th ed.). Baltimore, MD: Brookes McDuffie, A., Machalicek, W. A., Bullard, L., Nelson, S., Mello, M., Tempero-Feigles, R., & ... Abbeduto, L. (2016). A…

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    Fragile X syndrome (FXS) is a genetic disorder that is the most common cause of inherited mental retardation. Although often compared to autism, FXS is a comprehensive disorder, characterized by numerous physical and behavioral symptoms. FXS is a caused by trinucleotide repeats on the X chromosome, which prevents the production of the protein FMRP, that is necessary for normal brain functioning. It is important for parents, educators, and the general population to better understand this…

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    Fragile X syndrome is a genetic condition resulting in different types of growth problems like learning disabilities, difficulty with memory, and thinking skills. Affected individuals usually have a late development of speech and language by age two. Children with fragile X may have anxiety and abnormal behavior such as fidgeting or impulsive actions. They may have ADD, which makes it harder to pay attention and focus on specific tasks. About a third of people with fragile X have traits of…

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    The goal of the NICHD is to support researchers who are investigating “human development throughout the entire life process, focusing on understanding developmental disabilities, including intellectual and developmental disabilities, and illuminating important events that occur during pregnancy.” This goal of understanding developmental disabilities was addressed in Leonard J. Abbeduto 's grant abstract. Abbeduto discussed that fragile X syndrome (FXS) causes an “intellectual disability” that…

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    Casey presents as a four year old non-verbal girl who has been diagnosed with Autism on the severe end of the spectrum, as well as Fragile X Syndrome, both lifelong developmental disabilities. According to Autism Speaks, Autism Spectrum Disorder (ASD) is “a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors.” (What Is Autism?, 2016) Fragile X…

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    Fragile X Syndrome Essay

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    Fragile X Syndrome Fragile X syndrome or simply Fragile X is the most common inherited form of intellectual disability. Cause(s) of the disorder Fragile X syndrome occurs because the mutated gene (FMR1) cannot produce enough of a protein known as Fragile X Mental Retardation Protein or FMRP that is needed by the body's cells, particularly cells in the brain, to develop and function normally. Those with Fragile X will either have the CGG code repeat about 55 to 200, which is known as a…

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    Introduction: Fragile X syndrome (FXS) is known to be the most common cause of inherited mental retardation and autism and is the second most common cause of genetically associated mental deficiencies, after Down syndrome. It is a trinucleotide repeat disorder resulting from an expansion in a CGG repeat in the region of the fragile X mental retardation-1 gene (FMR1) on the X chromosome (more than 200 repeats were found in the full mutation, while the normal number of repeats is 6–54 repeats).…

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