Usher Syndrome (US) is a genetic disorder, caused by a recessive gene, and when both parents do not show any symptoms or express any of the genes characteristics. According to Benson, US is the most common cause of both deafness and blindness being inherited (2015). Currently, there are at least 10 genes able to cause US (Benson, 2015). Modern technology, such as newborn hearing screening, has reduced the age of diagnosed hearing loss from 12-18 moths to 6 months. Unfortunately, children with US are often diagnosed with only a hearing loss, at first, because problems with vision do not appear until much later. This misdiagnosis leaves parents confused because US has never been in their family before, but there is only a 25% their offspring with inherit US, and that is if they both carry the same genetic variation of US. There are also three different types of US and each type faces a different way to manage/treat these issues (Wallber, 2009b).
Usher Syndrome is distinguished by sensorineural hearing loss, retinitis pigmentosa (RP) and sometimes vestibular dysfunction is included (Sadeghi, 2006). RP is a
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Type 2 is also different because their balance is unaffected, so they should be able to reach developmental milestones faster than someone who has Type 1 US (Wallber, 2009a). In Type 2, visual deficits may not arise until the person is in their late teens and early twenties (Wallber, 2009b). Because vision remains unaffected until later, Sadeghi states the mean age for diagnosis is 26 years old (2006). Some people report a progressive hearing loss, but some researchers think this a phenomenon most likely caused by the increase in their inability to see. While the deterioration of vision is comparable the other types who also struggle with RP, Type 2 individuals tend to be less severe during their thirties and forties (Wallber
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
Ivy is the third generation in her family to be affected by achondroplasia. Her grandfather, her father, and her brother also have it. Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene is required to cause achondroplasia. Nobody with the mutated gene can escape having achondroplasia. Many individuals with achondroplasia have normal parents, though. In this case, the genetic disorder would be caused by a de novo gene mutation. De novo gene mutations are associated with advanced paternal age, often defined as over age 35 years. If an individual with achondroplasia produce offspring with a normal individual, the chances of the offspring inheriting the mutant allele achondroplasia is 50%. If both of the parents have achondroplasia, the chances that their offspring will be of normal stature a...
Mark started losing his hearing when he was about six or seven years old. This was manifested in confusion in music class, misunderstanding the words that the choir was singing, and discombobulation in noisy rooms. Eventually, it was noted that Mark’s hearing was deteriorating.
ALD has many different symptoms; some of the symptoms can be triggered as early as two years or as late as twelve but, the normal symptoms start between the ages of 4 to 10 and can include change in muscle tone, crossed eyes, decreased understanding of verbal communication, detoration of hand writing, difficulty at school, difficulty understanding spoken material, hearing loss, hyperactivity, progressive nervous system detoration, coma, decreased fine motor skills, seizures, and visual impairment or blindness(Lohr, DR. John T). If you recognize or detect any of these symptoms in your child you should immediately take them...
Retinitis pigmentosa can be caused in a person in numerous ways. It normally runs in families, however, it can also be caused from a mutation. We believe my grandmother developed the disorder from a genetic mutation, as no one else in my family has ever had the disorder or has developed it as of...
One of the central themes underlying the short story, The Fall of the House of Usher, is that of the nature of the house. The way it is described and the way it is so mysterious. Another central theme about this story is the nature of the people that live in the house. They are portrayed very much in the same manner throughout the story. Thus, they have several similarities with each other. All of which are of a bad feeling, showing how bad things are for the people and the house. These similarities are very well laid out in the story and are, I believe, meant to be something to be considered when reading it.
Often times in literature the author will correlate attributes of a character or things happening to a character with physical items or even other people within the story. This provides an indication of how a character is structured and sometimes foreshadows things yet to happen in the story. In the short story “The Fall of The House of Usher,” the author, Edgar Allan Poe, establishes two distinct parallels between three characters. Roderick is paralleled with both his twin sister, Madeline, and the actual house itself. Determining the similarities between these characters can provide an interesting literary exercise.
Marie Jean Philip was born on April 20, 1953, in Worchester, Massachusetts. She was the first-born child. Although she was born to deaf parents, Marie’s deafness came as a surprise for her parents. She had two sisters whom were also deaf. Deafness was hereditary in her family, however not everyone in her family was deaf. Marie’s father had one sister who was deaf and her mother had two siblings who were also deaf. When Marie was 11 months her parents noticed that she wasn’t responding to all noises. Her parents decided to test her hearing one day by creating noises behind Marie to see if she would respond. When Marie responded only to the loudest of noises, such as pots banging together, they found that at times she could hear with her right ear, but she could not hear anything out of her left.
worried about his genetic mutation of being tone-deaf. Ressler recalls that "he inherited what is physiologically ref...
B. In contrast to type 1, type 2 is usually developed later in life, due to health problems or other outside factors.
Hearing loss can affect a child dramatically in their early development. It is important to be aware and cautious of noticing signs towards possible hearing loss, because language and communication skills deve...
When it became obvious to his teacher that there was a problem, the school called Marks’ maternal grandparents, who were hearing. They didn’t contact his parents because the school had no system in place to make communication possible with the deaf, so they bypassed the parents and went to the grandparents. His grandparent’s reaction to the news was shock. Their reaction to his loss of hearing was the beginning of years of feeling inferior to hearing people and like a defective human being. Visits to doctors only confirmed to Mark that deafness was a horrible thing and that he had to do whatever he could to continue in the hearing world as best he could. He was given the distinct impression that something was terribly wrong with him and that he needed to be fixed, that deafness was a really bad thing. (Drolsbaugh 12).
Girls with this syndrome may have many middle ear infections during childhood; if not treated, these chronic infections could cause hearing loss. Up to the age of about 2 years, growth in height is approximately normal, but then it lags behind that of other girls. Greatly reduced growth in height of a female child should lead to a chromosome test if no diagnosis has already been made. Early diagnosis is very importance in order to be able to give enough correct information to the parents, and gradually to the child herself, so that she has the best possibilities for development. Early diagnosis is also important in case surgical treatment of the congenital heart defect (seen in about 20 per cent of cases) is indicated.
This usually occurs in older adults aged above 65; however, it is a disability and not a normal symptom of aging. Chances of inheritability are present, but it depends on the individual and the type of dementia (Alzheimer Australia, 2011). The Global Deterioration Scale provides a detailed explanation of the seven stages of cognitive decline in dementia (Alzheimer’s Association of Canada, 2005). Types of Dementia There are four main types of dementia, with AD being the most widespread form. It accounts for almost two thirds (50 -70 percent) of the cases and thus more extensively studied (Miller, 2009)....
The American Renaissance was a time period where the movement of many different things started. It was known as the richest period in history & was closely related to transcendentalism. American landscapes were very popular around that era there were paintings done by many artist around that time. Many writers wrote stories that included American landscapes.