18q Minus Syndrome

18q Minus Syndrome

Don't know which way to turn

"Is it my fault?" Wonder the parents.

How did this happen?

It is first important to define this disorder

- 18q Minus Syndrome is a rare condition that is often associated with both conductive and sensorineural hearing loss. It occurs when there is a deletion in the long arm of chromosme 18.

- Despite the fact that individuals with 18q Minus-Syndrome all have deletions on the long arm of chromosome 18, the location on the long arm is different among those with this disorder.

Individuals with this disability can be divided into two groups. First, individuals with 18q Minus-Syndrome may have deletions towards the end of chromosome 18, this is known as distal deletions. The second group of individuals with this disorder has deletions closer to the centromere, which is known as proximal deletions.

Individuals with this disorder are never exactly the same, making research of this syndrome incredibly important. Because this condition often has a high rate of individuals with hearing loss, it is important to recognize its’ symptoms, despite the fact that they may range from person to person.

The effects of the deletions range greatly, but may include short stature, mental disability, poor muscle tone, malformations of the hands and feet, cranio-facial abnormalities, a carp-shaped mouth, deeply set eyes, and often sensorineural or conductive hearing loss.

People with distal 18q- may have some cognitive disability, though the degree varies from person to person. "Based on standardized testing, people with distal 18q- have IQ scores ranging from above-average to severe mental impairment."

(Chromosome 18q- Syndrome)

The 18q-syndrome is associated with hearing impairment in 50-80 percent of cases. Individuals with this syndrome have a hearing loss that may be sensorineural or conductive. Many individuals with this syndrome have hearing loss that is associated with narrow external auditory canals, or an ear canal that ends before reaching the eardrum. (Otol)

The prevalence of 18q Minus Syndrome is rare, as 1 in 40,000 babies are born with distal 18q Minus.

When studying the behavior of individuals with 18q Minus-Syndrome, one would find that they are often “placid and affectionate;” however they are often susceptible to the frustration of communication problems that result from the disorder (Fryns, Jean-Pierre, Belgium and Courtney Sebold, and Maj Hulten, Dr., eds).

Many parents wonder if they are the source for problems occurring with this disorder in their child. The onset is at birth; however, it often occurs when both parents have normal chromosomes. The 18q Minus-Syndrome occurs due to a change when the parents’ sperm or egg cells were formed. No environmental, dietary, or lifestyle factors are known to cause these chromosome changes.

Often, the hearing loss is due to the narrow or stenosed external auditory canal. In other cases, a sensorineural loss is the result of nerve damage. (Otol)

Specific hearing impairments occurring with individuals that have 18q Minus-Syndrome vary from mild to severe

Some may have hearing loss due to having ear canals that are narrow or end before reaching the eardrum. Others may have changes in the nerve that is responsible for moving sound from the inner ear to the brain, causing a sensorineural hearing loss. Regular hearing screenings are essential for individuals having this disorder in order to better help them develop and maintain speech and communication throughout their lives.

Treatment for individuals with 18q Minus-Syndrome is incredibly diverse due to the various problems that may occur with this disorder. Some consider growth hormone therapy, while others simply need to address hearing problems associated with ear infection, sensorineural loss, or conductive loss associated with Stenosis or Atresia.

"Every person with 18q- is different and so each person will have different medical and developmental concerns. Additionally, no one person will have all of the features discussed. However, a number of common features have emerged:

 Short stature

 Hypotonia (low muscle tone or floppiness)

 Children need support with learning. The amount of support needed by each child will vary

 Foot problems 17"

Hearing Loss

(Unique - 18q Deletions from 18q21 and Beyond)

<iframe src="http://player.vimeo.com/video/7910592?badge=0" width="500" height="281" frameborder="0" webkitAllowFullScreen mozallowfullscreen allowFullScreen></iframe> <p><a href="http://vimeo.com/7910592">our hopes</a> from <a href="http://vimeo.com/eckoldt">Thilo Eckoldt</a> on <a href="http://vimeo.com">Vimeo</a>.</p>

There is hope.

Although there is much to learn about the disorder, progress has been made in treating individuals suffering from 18q Minus-Syndrome.

But there is hope

Individuals with this disorder suffer from a wide

variety of symptoms that can be treated in many cases.

Often individuals and families of those with 18q Minus-Syndrome...