Usher syndrome refers to a deaf-blindness condition. Patients with Usher syndrome have hearing loss and retinitis pigmentosa. RP is characterized by difficulty in balance, loss of peripheral vision, night blindness, retinal degeneration, and finally “tunnel vision”…
Download file to see previous pages...
Usher syndrome refers to a deaf-blindness condition. Patients with Usher syndrome have hearing loss and retinitis pigmentosa. RP is characterized by difficulty in balance, loss of peripheral vision, night blindness, retinal degeneration, and finally “tunnel vision”.Usher syndrome accounts for fifty percent of deafness and blindness cases. It occurs in 1 of 23,000 births in the US (Boughman, Vernon, & Shaver, 1983), and 1 in 12,500 in Germany (Otterstedde, Spandau, Blankenagel, Kimberling, & Reisser, 2001). Other countries have reported prevalence within this range. Usher syndrome is an inherited autosomal recessive disorder; symptoms of the syndrome may not be observable in a parent if he or she carries only a single copy of the gene. However, if both parents carry a copy of the gene, then there is a one in four chance that a child will get Usher syndrome. Nine genes have already been identified to cause Usher syndrome, although it is thought that many other genes could be responsible (Ebermann, et al., 2010).
These genes are responsible for encoding proteins that are involved in muscle function, cell adhesion, receptor function, synaptic shaping and scaffold formation (Williams, 2008). Clinically and genetically, the syndrome is heterogeneous resulting in three types of based on the onset and extent of deafness (National Institutes of Health, 2011). Type 1 individuals are deaf from birth and have poor sense of balance. Children with type 1 do not benefit from hearing aids, and efforts should be made to find the best means of communicating with them. It will become more difficult when blindness sets in. In Type 2 Usher syndrome, deafness is less severe, and motor skills are normal. Retinitis pigmentosa sets in during the teen years. Type 3 patients have mild but progressive deafness, with 50% of patients having dysfunctional balance or vestibular dysfunction. Progression of the disease varies, but blindness sets in during puberty and is complete by mid-adulthood (Williams, 2008; National Institutes of Health, 2011). Usher syndrome is diagnosed by evaluating vision, balance and hearing (National Institutes of Health, 2011). Vision is tested by conducting a field test to check the patient’s peripheral vision. An electroretinography is performed to test if the rods, cones and ganglions in the retina are still sensitive to light. In this procedure, an electrode is placed at the front of the eye to measure the response of the retinal cells to a light source. A light is flashed, and the response of the retina can be viewed on a computer screen. The pattern of the response is recorded in waves. Readings are taken under normal light and in the dark. Balance is tested with an electronystagmogram that measures involuntary eye movements (nystagmus). The latter test is conducted to check if connections among the nerves, ear and brain are working. Vertigo, dizziness, and loss of balance are symptoms that there are problems with these connections. In an electronystagmogram, electrodes are placed around the eyes (below, above and to the side). Another electrode is taped to the forehead. Cold water is then delivered to the ear canal, which should result in rapid side-to-side movement of the eyes. Then warm water is added, which should result in the eyes moving slowly towards the warm water and also slowly away. The electrode will measure the length and speed of the eye movements. Values below and above normal will indicate problems with the nerve connections. Hearing is tested by an aerologic test that measures the range that loud sounds at different frequencies can still be heard. The first step is to see if an audiogram is necessary by blocking one ear and checking the ability to hear different sounds. Tuning forks are also used. The fork is tapped and held at the side of the ear to test the ability to hear through conduction. Alternatively, earphones that are connected to an audiometer are worn by the patient. Tones are then delivered and the patient
...Download file to see next pagesRead More
Cite this document
(“Usher syndrome Research Paper Example | Topics and Well Written Essays - 750 words”, n.d.)
Retrieved from https://studentshare.org/health-sciences-medicine/1414324-usher-syndrome
(Usher Syndrome Research Paper Example | Topics and Well Written Essays - 750 Words)
“Usher Syndrome Research Paper Example | Topics and Well Written Essays - 750 Words”, n.d. https://studentshare.org/health-sciences-medicine/1414324-usher-syndrome.
The excessive cortisol weakens the immune system and causes a variety of symptoms and complications unless it is remedied by the surgical removal of the tumor. Cushing’s syndrome also occurs in dogs and horses and is managed in similar ways as the human type.
In certain cases this transfer is not successful and this leads to chromosomal abnormalities. These abnormalities occur due to different reasons such as radiations or chemicals. Primary abnormalities in the chromosomal structure are related to four classes which are deletions, inversions, translocations and ring chromosome.
In our environment, it’s not all we see, that is actually what is there. Appearances are often deceptive. People appearing to live a small kind of life are sometimes great individual. The way people are dressed up might not actually depict the kind of person they are and personality is often faked.
Asperger Syndrome Name of Student Name of University Asperger Syndrome A few years ago, the television program, Boston Legal, had a young lawyer named Jerry Epsenson, who was nicknamed “Hands” by another character, Denny Crane, because he always had his hands down at his sides.
A normal human being has 46 chromosomes, two of which are sex chromosomes (Morgan, T. (2007). Boys have x chromosome from their mothers and Y chromosomes from the fathers, while girls have double x chromosomes from both the parents. This condition is rare with an average of 1 to 5000 females; however, this does not call for its underrating.
This album also contained other songs that made it to the billboard to 100 songs such as “U remind me” and “U got it bad”. With his natural attractiveness and individual manifestation that isolated him from the rest musicians, Usher has ascended from sincere teen hero to an established musician (Jane 1).
RP is a group of inherited diseases that cause night-blindness and peripheral (side) vision loss through the progressive degeneration of the retina, the light-sensitive tissue at the back of the eye that is crucial for vision"."Usher syndrome is caused by a genetic mutation.
argued that it is not an absolute requirement for a diagnose of Carpenter syndrome, which allows a comorbid diagnosis that includes Summitt and Goodman syndromes within the clinical spectrum of Carpenter’s (Rice 100). The most common craniofacial deformity found in Carpenter
The possibility movement done in 1918-1926 led to several epidemic of tic disorder. Further research done in 1972 indicated that Tourettes is a neurological disorder rather than a psychological disorder. In 1990, there were existed new views of Tourettes emergence in which
6 Pages(1500 words)Research Paper
GOT A TRICKY QUESTION? RECEIVE AN ANSWER FROM STUDENTS LIKE YOU!
Let us find you another Research Paper on topic Usher syndrome for FREE!