Disability and education Essay Example | Topics and Well Written Essays - 1250 words

Disability and education - Essay ExampleThe most high-minded AS characteristics allow in, Seizures, which start showing at the age of 2 to 3 years affecting around 80% of all children experiencing AS (Clayton-Smith, 2010). Speech impairment, which ranges from little to no words at advanced stages. Consequently, this forces round victims end up using gestures or picture communication systems while conversing with other people (Clayton-Smith, 2010). In adult stage, people experiencing AS usually develop facial distinct features commonly described as coarse Victims of this disorder exhibit hyperactivity and in some cases stiff limbs, which become hindrance to their mobility. Sleep disorder. asymmetry state especially when one is walking or trying to undertake certain soulfulnessal tasks. spendthrift behavior coupled with happy demeanor (Dan, 2009). b. Incidence/prevalence Studies so far contacted cite AS is among the rarest diseases not only in US but also globally. Its prevalenc e is about one person in every population ranging from 12,000 to 20,000 people (Panayiotopoulos, 2010). However, this prevalence only represents estimates because the disorders exact selective information up to date is still unknown. ... d. Etiology Angelman Syndrome (AS) is a disorder normally caused by the anomalous function of the UBE3A gene, located on chromosome number 15. A child inherits a copy of the gene from each parent. The 2 copies are active in nearly all the body tissues but only the gene facts of life attained from the mother is active in the brain. The disorder occurs delinquent to four major genetic instruments, which include chromosome 15q11 q13 deletion. It involves deletion of a very small piece of DNA missing from the chromosome. The number of Angelman Disorder due to deletion range from 65% to 75% and the risk of recurrence rate being 1 %(Cassidy & Allanson, 2011). The consequence mechanism is the paternal uniparental disomy (UPD) whereby the patient poss es two copies of the chromosome 15 and no copy of the same chromosome from the mother. The number of AS cases due to UPD accounts for 3 to 5 %of all reported cases where chances of recurrence is below 1 percent. The third mechanism encompasses Imprinting Center (IC) mutations, which account for about 7% to 9% of the reported AS cases and has a portentous recurrence of 50%. The IC works like a switch. It turns on the UBE3A gene copy genic from the mother while at the same time turns off the copy of the gene inherited from the stimulate in the central nervous system tissues. The fourth mechanism is the UBE3A mutations. It occurs irregularly in patients suffering from it and accounts for an slightly 6% to 20% of the total AS cases. Normally, the risk of recurrence is less than 1% but increases to 50% if the mother of the affected person has the UBE3A mutation on her inherited paternal chromosome 15. However, in