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Cri Du Chat Syndrome
What are some symptoms? Most of the symptoms are: -high pitched cry similar to a cats -respiratory problems -webbed toes or fingers -small head -low set ears -low birth weight -behavior problems
How is the quality of life? Although it is considered a disease, the outlook for all Cri Du Chat patients varies after the first year of life. During the first six months after a child with Cri Du Chat is born, 75% of the children will die. From the first six months through the first year of life, 90% of children diagnosed with Cri Du Chat will die. After these two checkpoints, depending on the severity of physical and mental handicaps, the child will continue to live and most handicaps can be fixed or will disappear with age.
About Cri Du Chat: Cri Du Chat, or ''Cry of the Cat'' in French, is a genetic disorder where the fifth chromosome is missing part of one of the arms in the DNA. Also known as Five P Minus, Cri Du Chat was first discovered in 1963 by Professor Lejeune, who also discovered the genetic cause of Downs Syndrome, named this disease after the sound the children made. In Cri Du Chat the sound that many of the babies and young children make when crying. is that of a cat meowing, thus its name. This syndrome can cause varied levels of mental and physical handicap Most children who have the Cri Du Chat Syndrome attend specialized education. Females are more likely to be born with this disease although males have it as well.
Is it hereditary? No, Cri Du Chat Syndrome is not hereditary. Though the defect in the fifth chromosome comes from an unaffected parent, only one in 50,000 children will be diagnosed with Cri Du Chat syndrome. Almost all females diagnosed with Cri Du Chat Syndrome are fertile. However, there is a 50% chance of her offspring contracting this disease as well.
Is there a cure? No, Cri Du Chat has no cure. However, there are therapies available that can significantly improve the quality of life the patient has. These therapies are speech, physical, and occupational therapy. Ongoing support from the families has been shown to improve the condition of patients with Cri Du Chat Syndrome.Breakthroughs are being sought, but in rencent times none have been discovered that are safe for the patient.
Sources: http://health.allrefer.com/health/cri-du-chat-syndrome-symptoms.html http://www.criduchat.asn.au/criduchat/what.htm http://www.fivepminus.org http://ghr.nlm.nih.gov/condition-criduchatsyndrome http://www.criduchat.co.uk/gifs/debbie.jpg http://61.19.25.227/student_project/cromosome/images/brada.jpg
Anika Tripathi
