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
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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.
Segal, E. A., Cimino, A. N., Gerdes, K. E., Harmon, J. K., & Wagaman, M. (2013). A
Di Martino, P., Agniel, R., David, K., Templer, C., Gaillard, J., Denys, P., & Botto, H. (2006).
Gastmans et al, 1998; Cronquest et al. 2004; Tuckett, 1999 & 2005; Patistea, 1999; van Hooft 1999; Covington 20
Wynn, D., Kaufman, M., Montalban, X., Vollmer, T., Simon, J., Elkins, J., I Rose, J. W. (2010).
Rett syndrome is a particular neurological disorder that is first found in the first few months of life and typically almost always diagnosed in girls, but can be seen in boys, rarely, but it is possible (International Rett Syndrome Foundation, 2014). Rett syndrome symptoms soon appear after an early period of regular or near regular development until six to eighteen months of life, when there is a slowing down or stopping of skills. A period of backsliding then follows when the young female child loses communication skills and purposeful use of her hands. Soon, the known physical handicaps became visible such as washing hands, difficulty walking, and head growth abnormalities, the head will grow slower than it supposed to. More symptoms that may be brought on by the syndrome can include seizures and rapid and/or slow breathing repetitions while the child is not sleep. In the younger years of childlife, there may be a time of separation or withdrawal when she is irritable and cries inconsolably. With time, motor skill problems may increase, but in generally, the irritability the child endures lessens and eye contact and communication improve (International Rett Syndrome Foundation, 2014). According to rettsyndrome.org, Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different spots. It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births (Rett Syndrome Foundation, 2014). It is not a degenerative disorder, saying that this syndrome does not cause the body or the mind of the infected child to become weaker. It also causes problems in brai...
Zhang, Y. B., Harwood, J., Williams, A., Ylänne-McEwen, V., Wadleigh, P. M., & Thimm, C.
In the early components of this year, his parents had genetics test done on him to optically discern if his twin brother could possibly have the trait to have autism. It was found that he has the Fragile X Syndrome. Fragile X syndrome is associated with the expansion of the CGG trinucleotide reiterate affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein (FMRP), which is required for mundane neural development. Absence of FMRP in turn leads to abnormalities in brain development and function.
The children that are affected by this disability have delayed development of speech and language, along with serious intellectual disability. With FXS come various amounts of other issues for children and adults, which include, difficulty-paying attention, which can lead to attention deficit disorder (ADD), showing features of the autism spectrum and possibly having reoccurring seizures (Bagni, Tassone, Neri & Hagerman 2012). FXS is caused by mutations in the FMR1 gene, which is located on the X chromosome, therefore causing a malfunction in expressing the fragile X mental retardation protein that is vital in normal neural development (Bagni et al., 2012). “FXS is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders” (Bagni et al. 2012...
In some cases, mental retardation can be diagnosed at birth. An infant with Down syndrome, for example, is often identified by characteristic features. The diagnosis is confirmed with a chromosome analysis.
Fragile X Syndrome is a genetic disorder that causes individuals, mostly men, to develop developmental problems and cognitive impairment. Although men are mostly affected by this disorder, it can affect women as well. Approximately one in four thousand males are affected by Fragile X while only one in eight thousand women are affected (Fragile X syndrome, 2012). Fragile X causes a variety of symptoms such as possible ADD, anxiety, delayed development of speech and language, mild to moderate intellectual disability and hyperactive behavior. Symptoms of Fragile X can start by the age of two, or earlier. Men affected by Fragile X mostly experience mild to moderate intellectual disabilities. Since Fragile X is more common in males, they tend to experience symptoms more than women do. Intellectual disabilities usually only affect about one-third of women that have Fragile X. Children with Fragile X experience anxiety and tend to fidget more than normal or have impulsive actions. Many children may also have ADD which allows them not to be able to focus as much as a normal child would. Behavioral abnormalities are a common feature of Fragile X. Biting at the hands, flailing hands are arms and gaze aversions. When it comes to deficits, they most likely occur in reasoning, processing the environment and mathematics. Individuals with Fragile X may show features of autism, this mainly occurs in only about one-third of individuals with Fragile X. Another symptom of Fragile X is seizures. Again, since Fragile X is more common in males, seizures are more common in males. While only five percent of women experience seizures, about fifteen percent of males experience seizu...
Gordon, D., Heimberg, R. G., Tellez, M., & Ismail, A. I. (2013). A critical review of
Cerebral palsy is considered a genetic disorder because it is caused by an abnormality in the brain.
Autism is a very complex disease, doctors still have not found a specific cause of Autism, but there are many causes that may be the link to the disease. Genetic vulnerability plays a role in the development of Autism. Autistic symptoms can be present as soon as the child is one year old. There are many genetic mutations that account for many diseases, including Autism. One of the most common genetic causes for Autism is “Fragile X Syndrome” (Causes). Studies have shown that 30% of people with Fragile X Syndrome have Autism as well (Autism and Fragile X Syndrome). Tuberous sclerosis is another disease often associated with the genetics of Autism. About 40% of people with Tuberous sclerosis develop Autism (TSC and Autism Spectrum Disorders). The main reason for the two diseases link is because of “the abnormalities in brai...
Stodden , R. A., Roberts , K. D., Picklesimer, T., Jackson , D., & Chang , C. (2006). An
Structural variation of chromosomes has been seen in those who are diagnosed with Autism. Structural variation is when they rearrange the chromosomes and encompass millions of bases in every human genome (The Functional Impact…). Cytogenetically detectable chromosome abnormalities are found in 7.4% (129/1749) of Autism cases (Structural Variation…3).