A specific type of chromosome abnormality – Down Syndrome – Free Essay Example – 1076 Words

Introduction

Down Syndrome is a developmental disorder that is related to a specific type of chromosomal abnormality. There are different types of abnormalities; the most common one is trisomy 21, which 95% of children with Down Syndrome have as an extra chromosome. We learned that people with Down Syndrome can be diagnosed prenatally through the testing of cells from the placenta and amniotic fluid. This exercise helped us understand the scope within audiology and how the syndrome affects their hearing, as well as other treatments they are receiving. Having information from an established, reliable source was particularly beneficial. The scholarly article was a great way to provide us with information about the syndrome related to our class context. One disadvantage we experienced was the need to use multiple sources to gather sufficient information.

Associated Disorders with Down Syndrome

Heart Defects,
Vision Impairment,
Hearing Loss,
Infections,
Hypothyroidism,
Blood Disorders,
Hypotonia,
Sleep Disorders,
Epilepsy,
Digestive Disorders,
Celiac Disease,
Mental and Emotional Disorders.

Associated Hearing Loss with Down Syndrome

Sixty to eighty percent of children with Down Syndrome experience some level of hearing loss. This can be sensorineural, conductive or a mixed form of hearing loss. The causes of their hearing loss are often due to otitis media and wax build-up. These individuals typically have smaller, narrower external auditory canals. The physical characteristics of persons with Down Syndrome make hearing exams challenging.

Symptoms

There are physical and intellectual symptoms associated with Down Syndrome.
Physical Symptoms
Poor muscle tone
Short neck with excess skin
Flattened facial features
Smaller head and facial features
Larger tongue
Dental issues
Upward facing eyes with a skin fold on the upper eyelid
Brushfield spots, or white spots, on the Iris
Smaller hands; the hands are shorter and wider than normal
Congenital heart defects
Intellectual Symptoms
Short attention span
Impulsive behavior and poor judgment
Delayed speech and language development as well as an overall delay in learning

Diagnosis

There are two different ways that a child can be diagnosed with Down syndrome. The first is a screening test, done during pregnancy, which can show the risk of the baby having Down syndrome. The second is a diagnostic test that can identify the presence of Down syndrome in a baby before or after it is born.

Screening Tests

First-Trimester Combined Tests: During the first trimester of pregnancy, screening tests to detect the risk of the baby having Down syndrome are performed in two parts.

Blood Test: This blood test measures the levels of two different pregnancy-related hormones: plasma protein-A (PAPP-A), and human chorionic gonadotropin (HCG). Abnormal or troubling levels of these hormones might indicate that something is wrong with the baby.

Nuchal Translucency Test: During this test, an ultrasound is used to view the area at the back of the baby’s neck. Babies that have Down syndrome usually have more fluid that tends to accumulate in the neck tissue.

Second-Trimester Test: A final screening test is conducted during the second trimester to assess the baby’s risk of having Down syndrome. This is a second blood test that measures the levels of four pregnancy-associated substances: alpha fetoprotein, estriol, HCG, and inhibin A.

Diagnostic Tests: During the diagnostic tests, DNA is analyzed. Down syndrome can be diagnosed with the presence of an extra 21st chromosome.

During pregnancy

Chorionic Villus Sampling (CVS): During this test, cells are taken from the placenta and analyzed to see fetal chromosomes. This test is usually done between weeks 10-13 of pregnancy, and the risk associated is low.

Amniocentesis: During this test, a sample of the amniotic fluid is taken via a large needle that is inserted into the mother’s uterus. The sample is then analyzed for the fetal chromosomes. This test is usually done in the second trimester, after week 15, and also has a low risk.

Tests for Newborns

Chromosomal Karyotype: Down Syndrome can generally be identified by the physical features associated with it. However, these characteristics can also be present in infants without Down Syndrome. Most times, a chromosomal karyotype will be done. During this test, a blood sample is taken from the infant and analyzed.

Treatment for Hearing Loss

Hearing Aids

The type of hearing aid suitable for a child will depend on the type and level of deafness they have. When a child first starts wearing hearing aids, it is important that they wear them regularly. This allows the child to get used to them and lets the audiologist see the benefit the child is receiving.

Cochlear Implants

A cochlear implant is different from a hearing aid. It provides a sensation of hearing by stimulating the auditory nerve using electrical signals. The implant has two parts: a receiver, which is implanted under the skin behind the ear, and an outside part, which is worn like a hearing aid.

Bone conduction and bone anchored hearing aids

Bone conduction hearing aids use a vibrating pad that allows sound to be conducted through the bone rather than through the middle ear. They are worn on a headband with the vibrator behind the ear, resting on the mastoid bone. Children who have permanent conductive hearing loss and find a bone conduction hearing aid effective may also be suitable for a bone-anchored hearing aid.

Antibiotics, and decongestant medicines

If a child’s hearing loss is caused by an ear infection or repeated infections of the breathing passages, the child’s doctor may prescribe a six-week course of low-dose antibiotics. This may be combined with a decongestant medicine to help dry up the fluid. Some children may need a further course of antibiotics the next time they get an infection.

Grommet surgery

Grommets are tiny plastic tubes inserted into the eardrum, which help air circulate in the middle ear to prevent fluid from building up.

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Prognosis

Due to certain anatomical differences, people with Down syndrome are predisposed to experiencing difficulties in the middle ear and Eustachian tube, which often lead to hearing deficits. Some children with Down syndrome can be particularly sensitive to everyday sounds. This is known as hyperacusis. It may cause distress for a child in certain situations, particularly where there is a lot of background noise.

The effects of Down Syndrome can vary widely from child to child. Some children need extra care and attention, while others may lead healthy and independent lives. Here are some of the reasons that may cause higher levels of hearing loss in individuals with Down syndrome:

• Increased incidence of chronic ear diseases.
• Differences in the structure of the ear.
• Weaker immune systems.

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