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Down Syndrome

Because of similarities between certain mouse and human chromosomes, mouse models have allowed significant advances in understanding potential treatments for Down syndrome. For example, researchers currently are studying the use of the drug memantine, which supports cognition in mice and is approved for treating Alzheimer's dementia in humans, to improve the cognitive abilities of young adults with Down syndrome. Using a mouse model for Down syndrome, NICHD researchers showed that by administering neuroprotective peptides small protein sub units to mice before birth, they perform better on memory and learning tasks as adults.

The peptides, NAP and SAL, are sub units of two proteins that are important in brain development because they enhance the ability of brain cells to receive and transmit signals, and enable them to survive. Mice with the extra chromosomal material that were treated with NAP and SAL in the womb learned as well as mice that did not have the extra chromosome and significantly faster than mice with the extra chromosome that were treated with saline solution placebo. In an earlier study, NICHD researchers showed that when mice with the extra copy of chromosome 16 were treated with NAP and SAL in the womb, they achieved developmental milestones earlier than did untreated mice.

In this earlier study, the researchers examined developmental milestones for sensory, motor skill, and muscle tone in the first three weeks of life. Together these study findings show that NAP and SAL treatments improve both physical development and learning ability in a mouse model for Down syndrome. Other research focuses on the causes and pathophysiology of Down syndrome. The IDDB supports a broad range of activities in this area, including explorations of the signaling pathways, metabolic processes, and mitochondrial functions that affect the development of people with Down syndrome.

Other organizational units also support or conduct research related to Down syndrome. Research in Down syndrome has the potential to improve the clinical care and quality of life for individuals with Down syndrome and their families.

Areas of current and future research activity include the development of clinical trials for testing medical interventions and therapeutics in those with Down syndrome, the development and characterization of mouse models for understanding Down syndrome and testing the effectiveness of various medications, and the exploration of a variety of health systems' research questions. Future research related to health care disparities and Down syndrome focuses on ways to increase access to medical care and to increase life expectancy, particularly among underrepresented minorities.

Another issue that needs to be addressed is the dearth of adult health care providers with expertise to provide appropriate medical care for those with Down syndrome who are now adults.

To identify ways to ease the transition between adolescent care for those with Down syndrome and adult lifestyles, the following questions should be considered:. Some of these are listed below. Share Facebook Twitter Pinterest Email. Research Activities and Scientific Advances Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional copy of chromosome 21 trisomy 21 or additional chromosomal 21 material. Institute Activities and Advances Other Activities and Advances Institute Activities and Advances The Institute's portfolio covers a broad range of research areas, including the causes, treatment, and prevention of Down syndrome.

Improvements in learning in a Down syndrome animal model Using a mouse model for Down syndrome, NICHD researchers showed that by administering neuroprotective peptides small protein sub units to mice before birth, they perform better on memory and learning tasks as adults.

Some other recent scientific advances related to Down syndrome include: An assessment of gastrointestinal anomalies by sex, race, and ethnicity PMID: The NICHD Developmental Biology and Structural Variation Branch examines areas relevant to normal and abnormal development, such as the processes, patterns, and genetics of organ and central nervous system development. The Branch also supports research on epigenetic and genomic regulation of gene expression, and on developmental neurobiology.

The Institute's Section on Gamete Development, which is part of the Division of Intramural Research DIR , researches meiosis a cellular process of reduction and division, pronounced mahy-OH-sis to understand the mechanisms that lead to chromosome missegregation, which can cause Down syndrome and other disorders.

In addition, the DIR's Section on Implantation and Oocyte Physiology validates model organisms for their use in studying chromosomal abnormalities in human embryos and identifying new tests to detect chromosomal abnormalities in early embryos.

Recent studies explore the neurodevelopmental impact of congenital heart defects on people with Down syndrome. 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. 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 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. 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. The syndrome's 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 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. The ability to hear is essential to a child's 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. 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.

Otitis media with effusion does not resolve on it's 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. 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:


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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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In this paper we will look at a short description of what Down syndrome really is, the genetic causes of Translocated Down syndrome, symptoms, characteristics, medications, intervention programs and testing for Down syndrome while an infant is still in the womb.

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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. Down syndrome is the single most common form of genetically-based mental retardation. A List Of Excellent Research Paper Topics On Down Syndrome Introduction: Down Syndrome Can Be A Great Topic For Any Type of Paper. Down Syndrome can yield fascinating research papers.

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View Research Paper Outline Topic: Down syndrome from BIOL at Virginia State University. Jennetta Green Research Paper Outline Topic: Down syndrome Introduction (Background Information/History)%(8). 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.