Down Syndrome free essay sample

Peer Partner Final Project 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. This results in several hallmark characteristics and acute cognitive affects. Some of the physical traits associated with the syndrome are a small body, especially head and ears, hypotonia, hands that are broad and short, epicanthal folds, abnormalities of the ear, and nasal bridges that are flat in shape. There are also several orofacial characteristics such as a protruding tongue that occurs as a secondary characteristic to having a small and narrow palate (Saenz). These are just some of the physical characteristics commonly seen in the chromosomal condition, but the actual presentation of physical characteristics is highly individualized. Down Syndrome is the most common chromosomal condition, affecting one in every 691 babies born in the United States and over 400,000 individuals live with the chromosomal condition in the United States (â€Å"Ear, Nose and Throat and Down Syndrome†, Fogle 281). There is a slightly higher incidence of Down Syndrome in boys than girls. Infants are often diagnosed at birth by the occurrence of physical characteristics, but the actual expression of Down Syndrome varies considerably, and the diagnosis may be delayed if too much importance is put on only the typical physical characteristics. The diagnosis will be later confirmed through the use of â€Å"genetic karyotyping†, which determines the number of chromosomes present in the bodys eukaryotic cells (Saenz 381). The first physical characteristic of the chromosomal condition that is noticeable is often the presentation of hypotonia, the prescence of which should inspire concern and spur subsequent and swift assessment. 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. In these cases, the â€Å"chromosomal abnormality occurs as a random event during the formation of reproductive cells† (Down Syndrome†). This occurrence is possible in either egg cells or sperm cells, but it is most likely to occur in egg cells, and it is the occurrence of nondisjunction, a mistake in the division of a cell, that causes a reproductive cell to contain an odd number of chromosomes (â€Å"Down Syndrome†). 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. A balanced translocation refers to the genetic material in between chromosome 21 and a different chromosome being in a different arrangement than normal that is called a â€Å"balanced translocation because there is no extra material from chromosome 21† (â€Å"Down Syndrome†). 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. The syndromes severity ranges from the mild to moderate ranges; however, the one consistently present trait in children with Down Syndrome is mental retardation, and the syndrome is responsible for one percent of all cognitive mental retardation (Fogle 281). Despite these impairments many individuals are characterized as being generally pleasant, affectionate and happy people. While Down Syndrome individuals had a life expectancy of about 25 years in 1883, the life expectancy today is about 60 (â€Å"Down Syndrome Fact Sheet – National Down Syndrome Society†). 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. This is because a mild hearing loss in a child is more severe that it would be in an adult because of the development of the childs intellectual, emotional and language based skills (â€Å"Ear, Nose, and Throat and Down Syndrome – National Down Syndrome Society†). 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. , Skotnicka B. , Midro A. T. , and Musiatowicz M. was conducted in 1998 to examine features of hearing loss in individuals with Down Syndrome through otorhinolaryngological examinations and audiological assessments. The study involved forty seven children and fourteen adults with Down Syndrome. Tests were decided upon by the chronological age of the subjects, their intellectual abilities and the function of their middle ear; â€Å"pure tone play audiometry, tympanometry, acoustic reflex, auditory brainstem response and distortion product otoacoustic emissions† (Hassman E et. Al 199) were the examinations included in the study. The resulting data were compared to control groups of the appropriate age. The results showed that the children with Down Syndrome often exhibited impaired â€Å"conductive function of the middle ear  expressed by pathological tympanometry†(Hassman E et al. 199). More specifically, B and C type tympanometry was found in 56% of the individual ears that were tested. 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. In light of the time component in the development of language in children with Down Syndrome, hearing impairment is a significant problem, especially since hearing  impairment is â€Å"one of the most common disabilities in children with Down Syndrome† (Kattan et al. 931). The ability to hear is essential to a childs ability to develop language and speech and because many children with Down Syndrome have hearing problems early in their lives, hearing loss is a great concern for these individuals. 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. A study by Kattan, Jarrar, and Mahasinin 2000 found that 50% of the 26 children they tested had a conductive hearing loss, 4% had sensoirneural hearing loss, 4% exhibited a sensorineural hearing loss, while 35% had normal hearing (Kattan et al. 931). 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. et al. ). 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. It should be noted that since ear canals grow with age, the childs canals may widen, and may no longer be a problem after about age three (â€Å"Ear, Nose, and Throat and Down syndrome – National Down Syndrome Society†). 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. Otitis media with effusion does not resolve on its own in Down syndrome individuals as it does in others due to the shape of the Eustachian tube. 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. This can cause an accumulation of negative air pressure in the middle ear space which may result in retention of fluids and infection (â€Å"Ear, Nose, and Throat and Down Syndrome†). 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 77). 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: pressure equalization tubes, microsuction, and tonsillectomy, adenoidectomy or both, so there are several options to accommodate individual needs. 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. Adenoidectomy removes the adenoids if they are enlarged. Removal may be beneficial because it is behind the adenoids that glue ear may reoccur after pressure equalization tube placement. Another option is microsuction, which involves inserting a needle through the tympanic membrane and using it to draw out the fluid. The upside to this procedure is that the fluid does not end up in the external auditory canal and have to be cleaned, which is especially helpful in children with Down syndrome with narrow canals. The downside of microsuction is that it often requires several procedures. Like glue ear, cerumen impaction is a very common otologic pathology, and it has a high incidence in individuals with Down syndrome. It is a common cause of conductive hearing loss. Ear wax is meant to protect the skin of the canal, especially when it is filled with water. Normally, the wax should move towards the opening of the ear it is easily washed away. As mentioned before, individuals with Down syndrome often have cerumen that is abnormally hard or thick and accumulates quickly in a narrow ear canal and may quickly block the canal with partial or full occlusion. This may result in a reversible conductive hearing loss. In â€Å"a study of 107 children with Down syndrome who were referred to otolaryngologists showed that 39% had stenosis of the external auditory canal frequently complicated by cerumen impaction† (Roland et al. 52). The combination of the accumulation of thick cerumen and auditory canal stenosis can quickly lead to a conductive hearing loss. The symptoms of impacted cerumen are earaches, the sensation of plugged ears, tinnitus, and some hearing loss. To remove the ear wax, oil can be used to soften the cerumen. This may also be done as a preventative measure. Many cases of cerumen impaction may be treated at home, but in cases of auditory canal stenosis, the family may have an otolaryingologist remove the wax. Irrigation of the ear canal may also be effective, but irrigation should never be performed if the tympanic membrane may be perforated as this could lead to acoustic trauma or otitis media. Cholesteatoma are benign ear cysts, and, specifically, they are accumulations of squamous epithelium and karatin material that usually accumulate around the middle ear and mastoid and form a â€Å"progressively enlarging and destructive cystic lesion† (Issacson 604). The cholesteatoma may continue to enlarge to the point where it will destroy bone. If untreated, lesions may break through the temporal bone and apply pressure to the brain, which may result in infection that may, in turn, lead to intercranial abscesses. Individuals with Down syndrome are more at risk for developing cholesteatoma because they may have some of the conditions that put individuals at risk for developing the cysts such as â€Å"middle ear diseases, eustachian tube dysfunction, prior otological surgery, traumatic blast injury to ear, and congenital anomalies† (â€Å"Cholesteatoma†). If an individual complains of otorrhea (discharge from the ear) or hearing loss, an otolaryngologist should realize that cholesteatoma might be present (Bacciu et al. ). Cholesteatomas may cause irreversible hearing loss but fortunately, most incidences may be cured through surgery. The surgerys outcome depends on the size of the cholesteaoma when it is diagnosed. For children, it is important that lesions in the tympanic membrane are diagnosed by a pediatrician and that the child is then referred to an otolaryngologist. The cholesteatoma will be first noticeable as a round cyst, white in color, that can be seen behind the tympanic membrane, which is still in tact. If the cholesteatoma goes unnoticed, it will grow and the middle ear space will have a large white mass that bulges outward. A cholestatoma may be congenital or acquired. As they enlarge, the normal variegated appearance of the middle-ear space disappears, replaced by a bulging white mass. In the early stages of the cholesteatoma, it is unusual for the tympanic membrane to be perforated and for drainage to occur. These incidents most often come months or years after the onset of hearing loss which helps emphasize the importance of early detection (Issacson 607). A 2005 study by Bacciu, Pasanisi, Vincent, et al. , was conducted to â€Å"document the surgical treatment of cholesteatoma in subjects with Down syndrome† (Bacciu et al. 1007). This study exemplified some of the methods used to treat cholesteatoma as well as the challenges inherent in the treatment of this otologic pathology for Down syndrome individuals. They followed nine pediatric patients that were being surgically treated, and two of the patients had cholesteatoma in both ears (bilateral), which brought the total of ears being treated to 11. Two of the ears underwent a canal-wall-up mastoidectomy, while eight ears underwent a canal-wall-down mastoidectomy. Mastoidectomy refers to the removal of an infected section of the mastoid bone. One ear underwent a modified Bondy procedure, a modification of the mastoidectomy which entails exteriorizing the mastoid cavity leaving the pars tensa and ossicles intact. The outcome of this study was that one of the ears that underwent the canal-wall-up mastoidectomy was found to have reamaining cholesteatoma present. Another ear, after the same procedure, developed recurrent cholesteatoma which necessitates a change to a canal-wall-down mastoidectomy. Another patients neotympanic membrane became perforated and had to be repaired. This study demonstrated that cholesteatoma can be difficult to completely eradicate in a patient with Down syndrome, and an emphasis should always be put on early diagnosis and prevention especially in light of the challenges presented by the orofacial and craniofacial anatomy of children with Down syndrome. Despite the fact that conductive hearing loss is more prevalent than sensorineural hearing loss in individuals with Down syndrome, they are more likely to more likely to â€Å"have congenital permanent inner ear hearing loss than the general population (which has an incidence of 1:1000)† (Snashall, Susan). One of the reasons this happens is because the Cochlear hair cells may be absent. If the hair cells are present, they may still be subject to early degeneration. Once they reach their teenage years and after, they have a good chance of cochlear degeneration occurring. Hearing aids are often looked at as a viable option for even mild loses and amplification plays an important role in treating hearing loss in children with Down syndrome because it is probable that even a mild loss will have a strong impact on the development of their language. This is a severe concern, so hearing aids are also often recommended for conductive hearing loses that may last for over a few months. Hearing aids are also used with Down syndrome adult individuals who are living with early onset dementia because the loss may significantly affect their cognition skills. There are special considerations to take into account when Down syndrome individuals are to receive hearing aids because their ears tend to be smaller. It may also be that hearing aids are not appropriate for a child and a classroom FM system may be implemented instead. For cases of sensorineural hearing loss, recruitment is nearly always concomitant with the loss. Recruitment refers to the perception that the level of sound drastically increases for specific frequencies and becomes too loud too quickly and causes pain. It follows, then, that recruitment may lead to sound intolerance. This concern will be reflected in the prescription for the amplification devices. Down syndrome is the most commonly occurring chromosomal condition, and research into improving the quality of life for people with Down syndrome is, of course, incredibly important. It may be easy to underestimate the impact that a hearing loss may have on an individuals quality of life, especially in children when even a mild loss can be devastating to their speech and language development, but hearing is a critical skill for communication which is an integral part of a good quality of life. Thus, the treatment of otologic pathologies and hearing loss in Down syndrome is of the greatest concern to giving individuals with Down syndrome the quality of life they deserve.