Down syndrome

with a disease such as Down’s Syndrome (DS), a genetic defect of the chromosome 21, valuate and see the life from another point of view. Although they learn how to live with their disease, it is very difficult for them to integrate into the society. According to NDSS there are approximately 400,000 people who live with Down’s Syndrome in United States,…

Cri Du Chat Syndrome Section 1 The genetic disorder Cri Du Chat stems from the deletion of a portion the p arm of chromosome 5 in the affected person. This deletion is seemingly spontaneous in most affected individuals. “Approximately 90% of cases results from a sporadic, or randomly-occurring, de novo deletion” (6. pg. 606). This deletion may include a fraction to the entire loss of the p arm of the fifth chromosome as a whole. Taking into consideration the very spontaneous nature of…

Trisomy X Trisomy x syndrome, also known as triple x and 47xxx, is characterized by the presence of an extra x chromosome in each cell of a female. Three x chromosomes are present, rather than a normal pair in the nuclei of body cells. The first published report of a women with triple x syndrome was Patricia A. Jacobs at Western General Hospital in Edinburg, Scotland, in 1959. The condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls with triple x syndrome are born in the united…

babies will be born with chromosomal abnormality. The reactions to these disorders vary from stares to happiness, resulting in the child feeling different or abnormal but it should not be a thing to frown upon. Ectodermal dysplasia is a group of syndromes that involve defects in the skin,hair, and nails. There are about more than 180 types, each ranging from mild to severe. There are many gene defects that can cause ectodermal dysplasia,and it affects both women and men equally. It usually…

Through the past decade, a lot of syndromes have been discovered by different Scientists and some of them may be deadly such as meckel syndrome. (MGS) is a deadly and genetic disease caused by disorder in the genes and parents have a high potential to transfer it to their children. In fact, a study discovered using data from over one hundred and fifty cases of Meckel-Gruber syndrome, as accessed through the European Surveillance of Congenital Anomalies (EUROCAT) network, found the prevalence of…

Turner's syndrome is a rare condition that affects females. It results when a sex chromosome (X chromosome) is either missing or partially missing. Turner’s syndrome can cause a lot of different medical problems such as short height, puberty failure, heart defects, learning disabilities and social adjustment problems. It is sometimes diagnosed before birth, during infancy or during their early childhood. Occasionally the diagnosis is delayed until the teen or young adult years in those who have…

Cri du chat syndrome, also referred to as cat cry syndrome and 5p deletion, is a chromosomal disorder resulting from the deletion of the short arm, known as the p arm on chromosome 5 (1). This disease was first described in 1963 by a French geneticist, Jerome Lejeune as a hereditary congenital syndrome (1). Today, it is known as one of most frequent autosomal deletion syndromes that results from loss of the distal portion of chromosome 5 affecting the telomerase reverse transcriptase (TERT)…

on, even if he knows the answer. So, I always told him to feel free to tell me whenever need needed to take a break or I give him the break myself. I encourage him by using words like “you can do it, I believe you can do it, don’t be nervous, calm down, feel free to take a break when necessary, Hi five, you did it,” etc. • Person-Centred Theory: with this particular client, I coordinate him when doing his numeracy sheet, readings and spellings; but I ensure that he completes the working himself…

What is a developmental disability? A developmental disability is a mental or physical impairment which is chronic and begins before an individual reaches adulthood. There are many different types of developmental disabilities. They include Intellectual Disability (ID), epilepsy, autism, and cerebral palsy, which is the disorder this paper will be focusing on (CA.Gov 2013). Cerebral Palsy is an impairment in the area of the brain that controls muscle tone and movement. Cerebral Palsy does not…

Cynthia Fenelus Final Reflection Adam Sandler stars in the movie Water Boy as Bobby Boucher. He is a thirty-one year old man who lives at home with his mother. To say the least he is a “momma’s boy.” He plays a water boy for football teams. Bobby presents two disorders. One being a stutter and he also exhibits the characteristics of an intellectual disability. He is used as a water boy for several football teams before one of his coaches discovers his amazing talent of tackling and places him…