A Specific Type of Chromosome Abnormality – down Syndrome


Down Syndrome is a developmental disorder that is related to a specific type of chromosome abnormality. There are different types of abnormalities, the most common one is trisomy 21 which 95 % of children with down syndrome have one extra chromosome. We learned that people with down syndrome can be diagnosed prenatal through testing of the cells of the placenta and amniotic fluid.

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This exercise helped us learn the scope within audiology and how the syndrome effects their hearing as well as other treatments they are receiving. It was very beneficial to have information from an established source that was reliable. The scholarly article was a great way to give us information about the syndrome in the scope of our class. We had to use multiple sources to gather sufficient information which was one disadvantage.

Associated Disorders with Down Syndrome

Heart defects

Vision Impairment

Hearing loss



Blood disorders


Sleep disorders


Digestive disorders

Celiac disease

Mental and emotional disorders

Associated Hearing Loss with Down Syndrome

60-80 % of children with Down Syndrome have some level of hearing loss

Can have sensorineural, conductive or mixed hearing loss.

Causes to their hearing loss are Otitis media and wax build up.

Have smaller, more narrow external auditory canals.

The physical characteristic of a person with down syndrome makes hearing exams difficult.


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


There are two different ways that a child can be diagnosed with down syndrome. The first is a screening test, done during pregnancy, that 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 is done 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, ultrasound is used to view the area of the back of the baby’s neck. Babies that have down syndrome usually have more fluid that tends to collect in the neck tissue.

Second Trimester Test: A final screening test is done 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 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 somewhere between week 10-13 or 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 has a low risk as well.

Tests for Newborns

Chromosomal Karyotype: Down syndrome can generally be identified by the physical feature 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 that will be 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 what benefit the child is having.

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 a 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 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 to circulate in the middle ear to prevent fluid from building up.


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’s 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’s syndrome:

  • increased incidence of chronic ear diseases
  • differences in the structure of the ear
  • weaker immune systems
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