Essay about Fragile X Syndrome

Essay about Fragile X Syndrome

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There are many forms of mental retardation. Webster’s New World Dictionary defines mental retardation as “a condition, usually congenital, characterized by subnormal intelligence” (Agnes, p404). Mental retardation can be caused by a certain birth defect due to a traumatic event during the mother’s pregnancy, or mental retardation can also be inherited. The most common inherited form of mental retardation is Fragile X Syndrome.
Fragile X Syndrome was identified in the year 1991. This disability affects more males than females. Approximately 1 in 4,000 males are affected, however only 1 in 8,000 females are affected (Lombroso, 2003). Fragile X generates in the FMR1 gene. Fragile X is caused by an excessively repeating tri-nucleotide, cytosine-guanine-guanine, which is located in the FMR1 gene. Regular permutation cells have 29 or 30 triplets. Normal alleles have between 5 to 50 cells that repeat (Gecz, 111,112). The FMR 1 gene’s cells can repeat up to 200 times. Changes within the nucleotides can cause problems with the gene transcriptions (Lombroso, 2003). The expansions of the genes due to the excessive repeating, can cause physical, neurocognitive,
and emotional characteristics (“Definition of Fragile X Syndrome, 2002). As stated above, Fragile X is an inherited disability. Fragile X can, however, be passed in the family genes by individuals with no signs of Fragile X (NFXF, 2004).




Fragile X Syndrome 4

Fragile X is found in both males and females; however, the qualities that females possess in some cases differ from the qualities which the males possess. Only half of the females will actually show symptoms. Females with Fragile X will seem quiet, shy, and often prefer to be to themselves. One fourth of females...


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...nderstanding Fragile X Syndrome: insights from animal models,112-113.

Lathe, R. (2006). Autism, Brain and Environment. Autism and Autism Spectrum Disorders: An Introduction to the Problem of Recognition and Diagnosis, 20-21.

Lombroso, P. (2003). Genetics of childhood disorders: XLVIII. Learning and memory, part 1: fragile X syndrome update. Journal of the American Academy of Child and Adolescent Psychiatry
National Fragile X Foundation (2006). Retrieved January 27, 2009 from http://www.nfxf.org/html/what.htm
Fragile X Syndrome 9


Roberts, J., Long, S., Malikin, C., Barnes, E., Skinner, M., Hennon, E., et al. (2005). A Comparison of phonological skills of boys with fragile X syndrome and Down syndrome. Journal of Speech, Language, and Hearing Research 48.5

Smith, D (2006). Introduction to Special Education. Mental Retardation 197,202.

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