Cri Du Chat


Description:
Cri-Du-Chat is basically a genetic disease that causes “faulty” development in the larynx. The undeveloped larynx causes a “cat-like cry” in toddlers and babies, which makes it difficult to diagnose the disease after toddlerhood. Other effects of the disease are mental retardation, poor muscle development, slow growth rate, trouble swallowing, a low birth weight, and a small head.

Inheritance:
About 90% of the time, the disease is not inherited, and it is due to a sporadic deletion of part of chromosome 5. The other 10% of the time, the disease is inherited from a parent, (either with the disease, or a carrier of the disease.) and the disease is autosomal dominant. The genetic disorder is more often obtained from the father in comparison to the mother, and the disease can randomly pop up many generations after the last account of cri-du-chat in the family. If a parent has cri-du-chat, it is likely their children will as well.

Symptoms:
Symptoms of Cri-du-chat include trouble swallowing, an abnormally small head, a “cat-like” cry in babies and toddlers, wide-set eyes/ features, mental retardation, slow development of motor skills, webbed fingers/toes, low muscle tone, uncontrollable anger, short attention span, hyper activity, and trouble developing speech/language skills.



Daily Life:






Diagnosis:
The disease is diagnosed usually by the token “cat-like” cry infants and toddlers with the disease experience. Other signs of the disease that help doctors diagnose the disease include the abnormally small head and mental retardation. The disease can be detected by amniotic fluid before birth. It is important that diagnosis occurs early, because if it is not diagnosed, proper care usually is not given.






Treatment:
There has been no “cure” found for the disease; however, children are able to go through various therapies (motor therapy, speech therapy, etc.) in order to improve the difficulties of their condition. Behavioral therapy is also used, which may help with affected children’s anger, attention span, or hyper activity. Thee therapies include physiotherapy speech therapies, and occupational therapies.

Research:
Research on Cri-du-chat is very limited. Most researchers are focused on finding the specific genes that cause the symptoms of Cri-du-chat. Most researchers agree that it is more important to research and discover more therapies/treatments for affected children.



Additional Facts:
Cri-du-chat affects one in every 20,000-50,000 births. Cri-du-chat is not known to affect any specific ethnic groups, and it occurs more often in females than males. “Cri-du-chat” is French for “cry of the cat”, derived from the “Cat-like” cry affected babies and toddlers have. It is very unlikely that a parent with an affected child will have more than one child with the disease due to the rarity of the break in chromosome. When therapy is successful, their lives are very normal. It is not uncommon for many affected people with the disease to learn sigh language as their way of communicating as opposed to talking. (It is difficult to talk due to the undeveloped larynx.)





Punnett Square:


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Pedigree Chart:


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Pictures:

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Resources:
· http://learn.genetics.utah.edu/content/disorders/whataregd/cdc/

· http://www.criduchat.asn.au/criduchat/what.htm

· http://health.nytimes.com/health/guides/disease/cri-du-chat-syndrome/overview.html?scp=1&sq=cri%20du%20chat&st=cse

http://www.disabled-world.com/disability/types/cri-du-chat.php