Down syndrome is a variance in chromosome 21 that manifests with cognitive delay, muscle hypotonia, characteristic facies, and short stature. (Glanzman, 2015 & Powell-Hamilton, 2012) The genetic disorder was named after the Physician John Langdon Down, who had originally in 1866 labeled those with the genetic abnormality as “Mongoloids”; Down indicated his choice of term for the children because of their appearance was allegedly similar to those from Mongolia and at the time it was believed that those who were of Mongolian decent were to have halted development. The derogatory name for those with the Chromosome 21 anomaly was changed over a hundred years later in the 1960’s when it was criticized by Asian scientists. The “Mongoloids” term was dropped from the scientific community while “Down’s syndrome” took its place; in the 1970’s Down’s was revised and became Down syndrome in the United States. There are still parts of the world where the condition is still known as Down’s. (Leshin, 2003). The purpose of this paper is to outline the pathology, etiology, medical treatments, physical limitations, and physical therapy interventions for those with Down syndrome.
As of yet, the etiology of Down syndrome is idiopathic although there is a definite connection with maternal age. According to Allan M. Glanzman in Chapter 23, Genetic and Developmental Disorders, of Pathology Implications for the Physical Therapist, the overall incidence among live births is about one in 700; with the maternal age less than thirty, the risk of chromosomal abnormality is about one in 2000 births; at thirty-five to thirty-nine years of maternal age the incidence is about one in fifty; and for mothers forty and older the risk has increased to be about one ou...
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...the observation, practice, and the specificity of the on screen tasks are able to enable the children to engage the mirror neuron system to be able to mimic or apply the tasks outside the virtual reality (Wuang et al., 2010).
Even though chromosome 21 is the second most mapped chromosome, the cause of Down syndrome is still unknown. There is a connection between the maternal age and the increased incidence of the genetic disorder. At the moment there is not a cure for Down syndrome and only the associated diseases are able to be treated to make the life of the individual easier. The primary goal for both physical therapy and medical treatment intervention was to help the affected children develop to their full potential and with the aid of both, many children with Down syndrome are able to improve their lifestyles and do what children enjoy doing the most, have fun.
Johnson, P. A. (2014). Down syndrome. In L. J. Fundukian (Ed.), The gale encyclopedia of medicine (4th ed.). Retrieved from Gale Science in Context database. (Accession No. DU2601000443)
Children with Down Syndrome have distinct physical characteristics. They are short in stature and have a small, round face with a high flattened ...
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.
Children with Down syndrome are normally smaller, and their physical and mental improvements are slower compared to children who are unaffected.Some of the physical features in children have flattening of the back of the head, slanting of the eyelids, small skin folds at the inner corner of the eyes, depressed nasal bridge, slightly smaller ears, smal...
It is a well known fact that all living things, humans included, are made up of cells. The nucleus of a typical cell in the human body is made up of 23 pairs of chromosomes. Half of the pairs come from each parent. In some individuals there is a full or partial extra copy of chromosome 21 present; these individuals have Down Syndrome (National Down Syndrome Society). Down Syndrome is a genetic disorder that most people know very little about. Since Down Syndrome is something that very few people know much about, this paper will include a lot of information about the disorder that is not well known to the general public. In this paper I will discuss what exactly Down Syndrome is and provide background information and history, describe how and when the disorder is diagnosed, provide insight of what life is like for a person with Down Syndrome and I will do my best to clear up many misconceptions that people often have about individuals with Down Syndrome.
Roizen, Nancy & Patterson, David. (2003). Down’s syndrome. The Lancet, 361 (9365). Retrieved from http://search.proquest.com/docview/199035382/abstract?accountid=4216
Down syndrome was discovered in the 1800’s by a man named John Langton Down. Down syndrome1 is a condition that occurs in the chromosomes. The syndrome affects the intellectual ability of the person effected, their facial appearance and causes hypotonia2. Children born with this usually experience different types of birth defects. These birth defects can include heart defects and intestine blockage. People with Down syndrome are also at a high risk of developing other medical conditions. Some medical conditions include gastro esophageal reflux3, celiac disease4, hypothyroidism5, and leukemia6. Also some visual and hearing problems can arise. There are three types of Down syndrome.
"Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.
Down syndrome is caused by a problem with a baby’s chromosome. Chromosomes are cell structures made up genetic DNA (“Chromosomes”). Most people with Down syndrome have 47 chromosomes. This changes the way the brain
John Langdon Down, an English physician in the late nineteenth century published an accurate description of a person with Down syndrome. This paper was published in 1866 and got Down the recognition as “father” of the syndrome. In later
Down syndrome, a genetic disorder, is the most common cause for intellectual disabilities, occurring at an average of one out of every 700 births (CDS, 2006). This disorder is caused by the extra chromosome 21 (also known as Trisomy 21). According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS.
Down syndrome can be caused by a random error in cell division which results in a presence of an extra copy of chromosome 21. This type of error is called nondisjunction. Usually when one cell divides in two, pairs of chromosomes are split so that one of the pair goes to one cell, and the other from the pair goes to the other cell. In nondisjunction something happens that makes both chromosomes from one pair go into one cell and no chromosome from that pair goes into the other cell. A lot of the time, the error occurs at random during the formation of an egg or sperm. After a lot of research is has been discovered that in more than 90% of cases, the extra copy of chromosome 21 comes from the mother in the
The cause of this disorder is because of an extra chromosome in the body. About 90% of Down Syndrome cases are caused by this extra chromosome, chromosome 21 (this is why it is also called Trisomy 21). An extra chromosome originates in either the sperm or the egg. When the egg and the sperm unite to form the fertilized egg, two instead of three chromosomes in chromosome 21 are present. As the cells divide the extra chromosome is repeated in every cell.
The four most common heart defects are Atrioventricular Septal used to call Endocardial Cushion, Ventricular Septal, Persistent Ductus Arteriosus, and Tetralogy of Fallot. Children who are diagnosed with Down syndrome only about half of them struggle with mental health problems. The most common mental health problems for the people with the disorder consist of oppositional, impulsive and inattentive behaviors; general anxiety, repetitive and obsessive-compulsive behaviors; autism spectrum conditions; neuropsychological problem characterized by progressive loss of cognitive skills; sleep related difficulties and depression (Natl. Down Syndrome Soc.). Another common complication that has been listed by the National Down Syndrome Society is dental issues. When a child is diagnosed with Down syndrome their baby and permanent teeth may come in later than their peers; thus, the person’s teeth are smaller, have shorter roots and have some teeth missing than the average usual. The Global Down Syndrome Foundation states the importance of the continuous learning of the disorder is important because it gives the scientists a better understanding of the process of the three copies of chromosome 21, and helps update the medical guidelines so that doctors or an individual’s guardian can
Down syndrome affects many people in this world. Not only does it affect the person diagnosed as Downs, but it also affects their family and everyone around them. There are physical characteristics that help you identify somebody with Downs. There are also some health concerns that you need to worry about. In this essay I will give you a clearer understanding of what Downs syndrome is, and what it means to have Downs.