Education of Angelman Syndrome - Essay Example

Disability and education: Angelman Syndrome (AS) Key Words: Gene, DNA, Angelman Syndrome (AS), Chromosome,Deletion, UPD, Uniparental Disomy, a. Characteristics At birth, this disorder may not be noticeable by both the child’s parents and doctors whereby afterwards they come to realize it through developmental delays as well as speech impairment (Clayton-Smith, 2010). This is especially between the ages of 6 and 12 months where a keen parent starts wondering why his or her child’s development is not as per the expected normal growth. However, children with AS may exhibit feeding problems during the first months after birth followed by other more pronounceable characteristics that persist almost one’s entire life (Clayton-Smith, 2010). The most eminent AS characteristics include, Seizures, which start showing at the age of 2 to 3 years affecting approximately 80% of all children experiencing AS (Clayton-Smith, 2010). Speech impairment, which ranges from little to no words at advanced stages. Consequently, this forces some 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. Imbalance state especially when one is walking or trying to undertake certain personal tasks. Exuberant 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 prevalence 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 disorder’s exact data up to date is still unknown. This prompts numerous scholarly works rely data from medical clinics due to the disease’s rarity (Van Buggenhout & Fryns, 2009). c. Diagnosis The Fluorescence in Situ Hybridization (FISH) test is the most common used test for AS diagnosis (Cassidy & Allanson, 2011). This test involves taking of one’s blood sample for genetic checking with the intention of identifying any deletion on chromosome 15q11.2–13 (Cassidy & Allanson, 2011). d. Etiology Angelman Syndrome (AS) is a disorder normally caused by the anomalous functioning of the UBE3A gene, located on chromosome number 15. A child inherits a copy of the gene from each parent. The two copies are active in nearly all the body tissues but only the gene replica attained from the mother is active in the brain. The disorder occurs due to four major genetic mechanisms, 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 second mechanism is the paternal uniparental disomy (UPD) whereby the patient posses 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 significant recurrence of 50%. The IC works like a switch. It turns on the UBE3A gene copy inherited from the mother while at the same time turns off the copy of the gene inherited from the father 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 approximately 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 most cases the disorder occurs because the UBE3A gene copy from the mother is functioning abnormally, missing completely or is damaged. Consequently, the child lacks active copy of the UBE3A gene in the brain thus he or she suffers from the disorder. Nevertheless, the causes for some of the suspected cases of AS up to date are unknown. To prevent the disorder, the expression of gene undergoes alteration in several ways but changes in the DNA occur only by chance during conception. However, incase of a history of the syndrome in a certain family, chances for gene inheritance are high thus quite a number of the family members are affected. e. Interventions, modifications and adaptations necessary for the child to be included in a classroom and effects of cultural and linguistic diversity Before both parents and teachers advocate for active learning in the school, they ought to apply Portage. This is because the said programme will be helpful to the child especially in learning language, socialization, self-help and motor skills essential when mingling with other children in the school setting. This process might take long based on the child’s condition whereby the involved parties who are helping him or her ought to exercise a lot of patience. Some of the advocated therapies during Portage include speech therapy, physiotherapy and behavioral modification sessions. These tasks ought to be under the surveillance of a specialist besides the parents’ participation. Nevertheless, some behaviors may persist for a longer period like hyperactivity whereby this should not be a deterrent the child in proceeding to the next level. Cultural and linguistic diversities pose serious effects to the victim’s learning process and development. This is because parents due to the state of their child some end up being uncomfortable for having given birth to a disabled child. In some cultures, this may have a translation of bad omen whereby the involved parents and programme facilitators tend to shy away from helping the child, hence result to hiding him or her from the public. In addition, linguistic will also have an adverse effect on the child especially when both the parents and facilitators are trying to ensure the child masters varied aspects involved when communicating. Hence, turn out to be extremely discouraging especially during incidences where the person is unable to pronounce and word. f. What are the teacher resources for a child with the disability you selected? Children medical clinics Training, which he or she has underwent while pursing special education career. From places where they sell disability aiding equipments. Spiritual centers, which act as motivational facilities meant to encourage teacher and other entities to serve the disabled not only to earn salaries but also to serve humanity. g. Reflection Based on the information relayed in this study, I never knew whether in the medical field there are rare disorders based on their respective prevalence. Initially, I assumed all disorders despite some being strange usually are evident in our society though medical practitioners who fail to recognize them in time (Van Buggenhout & Fryns, 2009). Hence, worsen victims’ pain because in some cultures especially in third world states where some people do not have any clue about it due to the disorder’s rarity translate its occurrence as a bad omen or curse. Based on my opinion, this implies the disease even in some states victims suffering experiencing it end up dying without their respective parents and medical practitioners knowing about it. I think medical field ought to devote itself in devising better and effective procedures on how to prevent this predicament especially from the early years of a child or during antenatal care. This is because at these stages doctors may be able to rectify certain aspects early in advance instead of waiting when the child comes of age to conclude one has an AS disorder. The exercise entails adequate resources meant to screen newborn children and mothers to ascertain whether there are traces of the disorder in their DNA. Another aspect, which I found extremely fascinating, regards how medical field has ended up not contacting numerous researches on the disorder it comprises one of those human complications that are rare (Van Buggenhout & Fryns, 2009). I think this should not to be the case because probably the disease is extremely rampant in others regions especially in third word states where there are no resources to contact effective researches on their own. References Cassidy, S. B. & Allanson, J. E., (2011), Management of Genetic Syndromes, Hoboken: John Wiley & Sons. Clayton-Smith, J. (2010). Angelman syndrome. Journal of Pediatric Neurology, 8(1), 97-99. Retrieved from http://search.proquest.com/docview/217686922?accountid=458 Dan, B. (2009). Angelman syndrome: current understanding and research prospects. Epilepsia, 50(11), 2331-2339. DOI:10.1111/j.1528-1167.2009.02311.x Panayiotopoulos, C. P. (2010). A clinical guide to epileptic syndromes and their treatment: Based on the ILAE classifications and practice parameter guidelines. London: Springer. Van Buggenhout, G., & Fryns, J. (2009). Angelman syndrome (AS, MIM 105830). European Journal of Human Genetics: EJHG, 17(11), 1367-1373. DOI: http://dx.doi.org/10.1038/ejhg.2009.67 Read More