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Fragile X Syndrome

Down Syndrome
Down syndrome research paper as the college thesis
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Down Syndrome is, in most cases, not an inherited condition. Down Syndrome may be caused by Trisomy 21, which refers to the condition of having a an extra copy of chromosone 21, meaning three copies, instead of two, in each cell.

Likewise, Mosaic Down Syndrome is not an inherited condition. It happens in the early development stages of a fetus as a random occurrence in cell division, resulting in some cells having the normal duo of chromosome 21 copies, while some cells have three copies. In the third case, Translocation Down Syndrome, the condition may be inherited. The carriers of this balanced translocation do not display signs of Down Syndrome, but they have a higher risk of giving birth to children with the chromosomal condition.

Despite these impairments many individuals are characterized as being generally pleasant, affectionate and happy people. In respect to their receptive language, children diagnosed with Down Syndrome often have language comprehension that is about the same as their mental age.

Note, that this is often different from their chronological age. As a general rule, their aptitude for language comprehension is greater than their aptitude for expressive language, specifically speech. It is important to note that these children frequently exhibit comparatively good development of language in their infancy and toddler stages, this is particularly true when the children are enrolled in early-intervention After this period of time, however, in the first school years the rate of language development noticeably slows down.

In terms of general diagnostic testing, it is recommended by The American Academy of Pediatrics and the Down Syndrome Medical Interest Group that babies diagnosed with Down Syndrome should have audiologic testing directly after the are born and then again every six months until the child is three, or until they can sit for an audiogram with ear specific testing.

After this point, there should be an annual hearing test, and even if there is only a mild hearing loss, hearing aids should be considered. The tests should change with their development. Newborns who have been diagnosed with the syndrome receive the mandatory hearing screening and receive objective tests like otoacoustic emissions or auditory brainstem response like other babies. Those who fail the screening should be tested with visual reinforcement audiometry at the devlopmental age not chronological age of ten months and conditional play audiometry when they reach the developmental age of two years.

Adults should have a hearing assessment conducted every five years, ideally with pure tone audiometry testing and an additional word test Snashall, Susan. Due to differing craniofacial and orofacial anatomy, tymapnometry will always be a useful test for middle ear fluid.

Likewise, an otoscopic exam should be conducted annually to check the accumulation of wax. The buildup of cerumen is so common that pathologies of the middle ear may go unnoticed unless searched for by otoscope. A study by Hassman E. The study involved forty seven children and fourteen adults with Down Syndrome. Al were the examinations included in the study. The resulting data were compared to control groups of the appropriate age.

It was also found that distortion product otoacoustic emissions had lower amplitudes in the children diagnosed with Down Syndrome than those found in the control groups. Consequently, children with Down Syndrome who are diagnosed with a hearing impairment are in danger of having learning impairments subsequent to their hearing loss. Therefore the diagnosis and treatment of otological disorders in children is an important topic for the education of speech and language students as well as clinical research.

Though a small study, it supports the general consensus that children with Down Syndrome have a high incidence of persistent conductive hearing loss. This must be aggressively diagnosed and managed because this hearing loss may turn out to be one of the major factors that may cause the spoken communication abilities of Down syndrome children to rate significantly lower than their actual cognitive abilities.

The conductive loss often seen in individuals with Down Syndrome can result from several otologic pathologies such as stenotic ear canals, otitis media, glue ear, cerumen impaction, and cholesteatoma Satwant S.

Stenotic ear canals refer to an external ear canal, the canal that connects the external ear to the middle ear, that has become unusually narrow. If the ear canal is narrow enough it may cause a hearing loss. The stenotic ear canals can present several practical problems, the canals may become easily clogged, and it may be difficult to correctly diagnose middle ear disease in stenotic ear canals. To be sure of appropriate examination and diagnosis, the canals may require an otolaryngologist to clean the canals before examinations, which should occur every three months to prevent ear infections that may otherwise go undiagnosed and untreated.

The diagnosis for this is aided by a simple macroscopic examination of the canal or a standard otoscopic examination. In terms of treatment, a surgeon may remove extra tissue to widen the canal. Another concern is the actual craniofacial and orofacial anatomy of Down syndrome children which may also lead to chronic ear problems. Certain anatomical characteristics may impede the aeration of the middle ear which can lead to otitis media.

The outer ear canal normally cleans itself, moving cerumen away from the tympanic membrane towards the external auditory meatus, but in children with Down syndrome, the canal is abnormally narrow making these processes less efficient and leading to a build up of ear wax. This accumulation of cerumen is made worse by the fact that it may be more copious and harder than normal, and the impacted ear wax may then block the external auditory meatus.

There may also be problems with the Eustachian tube which connects the middle ear space to the nasopharynx. Eustachian tube dysfunction may result in otitis media with effusion glue ear , which can result in a conductive hearing loss. In general, the tube may be narrower and more horizontal than normal and the nasopharynx may be small Snashall, Susan. Also, children with Down syndrome may have hypotonia, also known as low muscle tone, which may cause difficulties in opening and closing the tube.

Another concern about Eustachian tube dysfunction is that it will last longer in children with Down syndrome that other children, so an important part of prevention is frequent examinations and consistent monitoring. Otitis Media is a basic term for the infection or inflammation of the spaces in the middle ear Peterson, Bell Though otitis media is a very common childhood illness, children with Down syndrome are particularly susceptible to ear infection including serous otitis media thin, watery fluid is present with infection.

There are several causes for this; for one, individuals often produce large amounts of mucous. When this is coupled with immunodeficiency in the individual, infection may easily occur. Also due to immunodeficiency, children with Down syndrome have a higher incidence of upper respiratory infections which can predispose chronic lasting at least six weeks otitis media.

Upper respiratory infections or allergies may result in a swollen Eustachian tube which may entrap bacteria and may result in otitis media. Symptoms of otitis media include ear otalgia, which refers to ear pain, fever, and otorrhea, which refers to discharge of the ear.

To diagnose otitis media, an otoscopic examination will often be effective. The doctor will be looking to see a tympanic membrane that is normal in color, pink to gray, and it should be slightly translucent. An inflammed, red or engorged eardrum will point towards infection, as well as a tympanic membrane that bulges outward, retracts inward, or shows signs of perforation. Other options are tympanometry to test the middle ear function and test for fluid. If a child experiences chronic Eustachian tube dysfunction, treatment may include pressure equalization tubes which can eliminate the chronic episodes.

These tubes are placed in the eardrum and allow air to enter the middle ear. The downside of the tubes is that they may need to be replaced. For chronic ear infections, anti-biotic medication may also be considered. Glue ear is also called secretory otitis media or otitis media with effusion. Like regular otitis media, it has a high incidence in Down syndrome children.

A mucous like fluid secretes and gathers in the middle ear, which should only be filled with air, and covers the ossicles, preventing them from moving normally, which results in reduced hearing levels.

While glue ear is common, Down syndrome provides extra complications to this condition. For one, the glue-like substance is stickier which makes it more difficult to wash and prone to infection. Again, anatomy may affect the condition because if the Eustachian tubes are narrower and more horizontal, it will be difficult for the Eustachian tube to let the middle ear drain. Treatment of glue ear is essential because, if left untreated, glue ear may result in irreversible damage to the middle ear, this may be due to the lack of motility of the ossicles.

Fortunately, there are three main approaches to treating glue ear: The procedure to inset pressure equalization tubes is called a myringotomy operation and refers to the small cut made in the tympanic membrane which may also be done as a separate procedure. It is generally performed with the patient under a general anesthetic. If the fluid is very viscous a cut will be made to let air into the middle ear space while the other cut drains the fluid.

Pressure equalization tubes go through the tympanic membrane, relieving the often painful pressure of the fluid against the eardrum, and allow for the fluid in the middle ear to drain into the external auditory canal.

The tube is held in place by the tension in the tympanic membrane. The pressure equalization tubes will be pushed out of the tympanic membrane after a few months to a year of having them in place, but if they are placed correctly they are extremely effective, allowing the fluid to leave the middle ear space. If an adenoidectomy is to be performed as well, it will probably be during the same surgery.

Down syndrome, which is also called trisomy 21, is rather a common chromosomal disorder. The syndrome was first described by John Langdon Down in March 21, became the first World Down Syndrome Day. So, you are about to start writing a Down syndrome research paper. We suppose that you do not really want to go deep into genetics and write about karyotypes, meiotic nondisjunction, and so on.

Then what should you focus on when writing your Down syndrome research paper? Actually, everything is not that difficult as it seems at a glance. Your Down syndrome research paper can be devoted to less sophisticated things and still be interesting and informative. This is a possible plan that you may use to prepare your Down syndrome research paper. Point 1 In the introduction of your Down syndrome research paper, explain the causes of the disorder. Women who decide to give birth to a child after risk to have a baby with Down syndrome.

Point 3 Tell in your Down syndrome research paper about different ways of improving the quality of life for people with this disorder. Describe some specific education programs for children. Do you have enough time for preparing your Down syndrome research paper and want to make it more impressive? Then try to interview parents or caregivers of children with Down syndrome.

Real life stories will make Down syndrome research papers more convincing and captivating to read.

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Down Syndrome Research Paper Down syndrome is a chromosomal condition in which an individual possesses extra genetic material, specifically an extra complete or partial duplicate of chromosome 21 in some or all of an individuals cells.

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Down Syndrome research papers discuss this genetically based mental handicap. This is a topic suggestion on Down Syndrome from Paper Masters. Use this topic or order a custom research paper, written exactly how you need it to be.

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