Understanding Down Syndrome

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Down syndrome also known as “trisomy 21” is a genetic condition in which a child is born with an extra chromosone which causes certain features and delays in development. In sexual reproduction (meiosis) the new cell will have half of the mothers chromosones 23 and half of the fathers chromosones 23 to make a total of 46 (23 pairs) in the new cell (zygote). In a child with Down Syndrome they will have an extra chromosone 21 making a total of 47 chromosones. There is no specific reason why this extra chromosone is present but the older the mother is when giving birth the more likely that her baby will have Down syndrome. Down Sydrome is named after John Langdon Down, the first person to describe the condition in 1866. He noted that some of his patients had very similar features and had the same intellectual characteristics despite having no connection. Initially he named the condition “mongoloid idiocy” as he believed the patients had features like a mongolian, although this name was not used for long. People disputed the fact as patients had very different features like hair or eye colour and some had blonde hair and pale skin unlike a mongolian. "The number of idiots who have arranged themselves around the Mongolian type is so great and they present such a close resemblance to one another in mental power that I shall describe an idiot member of this racial division selected from the large number who have fallen under my observation. The face is flat and broad and destitute of prominence. The cheeks are roundish and extended laterally. The eyes are obliquely placed and the internal canthi more than normally distanced from one another. The palpebral fissure is very narrow. The tongue is long, thick and much roughened. ... ... middle of paper ... ...ds are met by his parents, who have done an enormous amount of research and made themselves involved in every aspect of his development. It is always important for the parents to be included in the desicions of his medical care as they are the primary care givers of Dylan. Educating them on his health issues such as ASD and making informed decisions on his treatment is crucial. There are meeting on updates of his care including the Occupational therapist, Physio Therapist, speech and language therapist etc. My role is listening to Dylan and his parents needs and take all of their requests into account when he is at school. I also make them aware of everything he learns as he learns it, his teacher is also communicate with his parents. My duty of care to him is to listen to him, allow him to make decisions when possible, praise and encourage him whenever I can.

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