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Fragile X Syndrome - Essay Example

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Fragile X Syndrome By (Your Name) (Presented to) (Instructor/Tutor) (Course/Subject) (Institution/University) (City, State) (Date) Fragile X syndrome This syndrome is also called Martin-Bell syndrome and other scientists have given it a third name, Marker X syndrome…
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Download file to see previous pages Number one cause of such disorders is Trisomy 21. It has high male preponderance with females generally acting as carriers. Overall, it affects about 1 in every 4000 males and 1 in every 8000 females, giving a male to female ratio of 2:1. It is a sex linked dominant condition that occurs and has reduced penetrance (Denman, 2011). Causes The most important cause of this symptom is genetic abnormalities and mutation of the fragile X retardation 1 gene (FMR1) on the X chromosome. This leads to development of more CCG trinucleotide repeats in the position 5’ un-translated region of the gene. Apart from this translocation, there can be a point mutation that affects the gene causing the condition. Since there is a mutation on the mentioned gene, many repeat codons are available. Therefore methylation of the gene on band Xq27.3 leads to development of a constriction of a portion on the X chromosome hence development of fragility (Hagerman & Hagerman, 2002). Signs and symptoms of the condition This condition generally affects most systems in the body. Problems are observed in the following areas: developmental and cognitive behaviors, musculoskeletal and central nervous systems, general behavior and recurrent nonspecific illnesses. These signs and symptoms are discussed below. Developmental Generally, the patient has delayed mile stones as compared to other infants of the same chronological age. This means that the normal time taken to reach important goals like supporting the head, crawling, standing and even walking are not reached at the normal times that other infants without the condition take. Delays in language and speech are often noted after reaching the first year of life together with impairment of fine motor skills. Preservation and echolalia tend to dominate the patient’s speech as he grows up and these can sometimes be accompanied with lose of expressive language ability with a very short term memory (Hagerman & Hagerman, 2002). Cognitive signs and symptoms Low intelligent quotient is often noted (20-70) although that for females may approach 80. This IQ also tends to be higher in children and reduced or low in adulthood since there is progressive mental retardation as the patient grows up. Neurophysiology The patient appears depressed almost always with episodes of anxiety. They tend to develop an autistic like behavior and an oppositional defiant disorder. The children have difficulty in coping with altered routines and seizures often develop between the age of 6 and 24 months. They also might develop tantrum episodes and self-injurious behaviors. Some males develop features that closely resemble attention deficit disorders which might include attention deficits (Upner, 2007). In musculoskeletal system, the chest often appears pigeon shaped a term known as pectus excavatum. The joints of the body are lax, hyper extensible and have dislocations. The spinal cord is also deformed, having a shape called scoliosis. The muscles are hypotonic and the feet are flat (Carvajal & Aldridge, 2011). Other symptoms include the following: Feeding difficulties that might include reflux or vomiting. This might be associated with low weights during infancy. Other children might develop obesity caused by severe hyperphagia. The patients might also have reduced visual acuity, strabismus, recurrent sinusitis and otitis media. The males often have testicular hyperplasia and obesity that leads to poor linear growth with diffuse and hyper pigmented skin. Generally, the patients have small ...Download file to see next pagesRead More
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