Cri-du-chat (Cat's Cry Syndrome)
By: Murphy Kell
Causes of Cat's Cry Syndrome
Cat's Cry is caused by a mutation in the genetic code. More specifically it occurs in chromosome five where the short arm of the chromosome is partially deleted. This disease occurs in about 1 of every 20 to 50 thousand people, but is still one of the most common chromosomal disorders involving deletion (Kivi 1).
Are there Prenatal Tests for Cat's Cry Disease
Yes, there are tests such as amniocentesis which can help see if this disorder is present or not (Tullu 1).
Who is Most Affected?
Females are more likely to get Cat's Cry than males, although it is difficult to tell because some cases go diagnosed. There is nothing that causes Cat's Cry, it's just a spontaneous mistake in the early stages of embryonic development (Mezoff 14).
How is it Inherited?
Cat's Cry is not related to mutation because it is a random mutation in the ear stages of fetal development. Most people with the disease will be the first in their families to be diagnosed with it (Antle and Howard 1).
What are the Symptoms?
Cat's cry affects the sound of a child's cry making it sound like a cats meow. It can also cause organ defects and other disabilities or abnormalities. It can be deadly, but if it is deadly the child will usually die before their first birthday (Kivi 2-3).
Extra help Needed
As children with Cat's Cry age, they may need physical therapy or education intervention to help them be able to live as normal a life as possible. Most people with Cat's cry though are able to learn enough words and have good enough physical capabilities to live a mostly normal life. (Kivi 2, 20).
Cures and Prevention
There are no cures for this disorder besides therapy and no way to prevent it either (Kivi 20-21).
Can Someone with Cat's Cry have Kids
Yes, they most certainly can as pregnancies have been reported by people with this disorder. These children could possibly be affected, but it is completely random since the disease is caused by a random mutation (Kivi 1).
Research on Cat's Cry
There is research going on about special therapies that could potentially allow people with Cat's Cry to have the abilities of the average six year old when they are six years old as well (Mezoff 27).