Down syndrome: an informative essay down syndrome is the name for babies born with a disorder related to their chromosomes. The reason for this defect is often because the parent is over 40 or for some other reason their meiosis is not up to par. The abnormal development results in 47 chromosomes rather than the usual 46 23 from each parent. There are an estimated 50 babies with down syndrome born in america every single year.

While the chances of having a down syndrome baby are slim, 1 in 10 it is still an issue that to be parents should discuss and prepare for. Some of these are: larger or almond shaped eyes sometimes brushfield spots on the irises , smaller than normal features, such as smaller ears or a smaller nose, short stubby fingers, a single palmar crease on their hands, and having exceptional social intelligence. Because down syndrome is cause by a cell abnormality during meiosis, it can not really be proven that down syndrome is hereditary. A perfectly healthy mother could have a down syndrome baby even though there was never any sign of the disorder in her pedigree.

This is where the extra chromosome 21 decided to break away and attach itself to another chromosome. 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. 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 400,0 individuals live with the chromosomal condition in the united states ear, nose and throat and down syndrome , fogle 281. 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 genetic karyotyping , which determines the number of chromosomes present in the body's 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 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 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 down syndrome .

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. 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 balanced translocation because there is no extra material from chromosome 21 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 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 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 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.

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 child's intellectual, emotional and language based skills ear, nose, and throat and down syndrome – national down syndrome society .

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.