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Cri du Chet Syndrome

Genetic Disorder

Emma Chiu

on 29 November 2012

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Transcript of Cri du Chet Syndrome

Emma Chiu Cri Du Chat Syndrome Bibliography EFFECTS OF CRI DU CHAT SYNDROME Treatment/Prognosis FUN FACTS!! http://www.disabled-world.com/disability/types/cri-du-chat.phphttp://learn.genetics.utah.edu/content/disorders/whataregd/cdc/http://www.celebratingjulia.com/what.htmlhttp://ghr.nlm.nih.gov/condition/cri-du-chat-syndromehttp://answers.gardenandhearth.com/Health/is_cri_du_chat_syndrome_dominant_or_recessivehttp://www.criduchat.asn.au/content/cri-du-chat-syndromehttps://sites.google.com/a/mail.cashton.k12.wi.us/cashton-public-schools/inheritancehttp://www.criduchat.asn.au/content/cri-du-chat-syndromehttp://emedicine.medscape.com/article/942897-treatment
Description of Cri Du Chat Syndrome Which is caused by a break in the DNA molecule that makes up a chromosome. Most of the time, the chromosome break occurs during the development of the sperm or egg. What causes the Cri Du Chat syndrome? Typical Symptoms Smaller in size when they are born Respiratory problems Cat-like cry Distinctive features Eyes are widely apart, the head is unusually small and round. Heart defects Muscular or skeletal problems Hearing or sight problems Difficulty walking and talking; also mental disabilities The geneticist Jerome Lejeune, identified the Cri Du Chat syndrome in the year 1963. History about the Cri Du Chat Syndrome Throughout his lifetime, he has worked on identifying diseases related to chromosomal abnormalities; he also discovered the genetic abnormality that caused the Down Syndrome. Who does the Cri Du Chat Syndrome affect? It has an estimated incidence of 1:50,000 births There is a higher amount of girls that have it instead of boys. result of the deletion of the short arm of one of the pair of number 5 chromosomes. There is around 13% possibility of result from an error in a number five chromosome in either parent. Can the Cri Du Chat Syndrome be inherited? Most of the time, this disorder is not inherited.
It normally forms as a random event during the reproduction of the sperm and egg. About 10% of the people with the Cri Du Chat Syndrome inherit the chromosomal ability from an unaffected parent. That will happen because one of the parents carry a balanced translocation, which means that no genetic material is lost or gained. Someone might also ask, is it a dominant or a recessive trait? The answer is different from other genetic diseases; since the Cri Du Chat syndrome is not inherited, and rather a deletion of the chromosome five, it is neither dominant nor recessive. Which chromosome is the gene for the disorder located on? Since this syndrome is caused by a deletion of genes, there aren't any genes that this disorder is "located" on. Although that is said, the Cri Du Chat Syndrome does have to do with the missing chromosome 5. Is this disorder more likely to occur in certain populations? This disease is more common amongst the girls, according to some scientists, but there hasn't been direct proof. But since there aren't any genes that carry this disorder, no population is mainly targeted. Are there environmental factors or influences that may raise the possibility? No one has ever proved a correlation between the occurrence of Cri Du Chat Syndrome and any environmental factor like radiation, pollution, or medication. There isn't any specific race or culture that is diagnosed with this disorder specifically, so the ethnicity of the child is not a contributing factor. Extra large slide to demonstrate the Punnett Square of the Cri Du Chat Syndrome! You probably expected an extra large Punnet Square. But if you have been paying attention to my presentation, then you wouldn't have!
I repeated OVER and over again, that the CRI DU CHAT SYNDROME is not inherited, so a Punnett square would not be applicable. Pay attention next time! Ms Pitty. (right now it's Emma) it actually looks like ms pitty... used later on in life. What are the effects of having the disorder? Mental disability from mild to severe. Speech and language impairment from mild to severe. Short attention span. Hyperactivity Effects of Cri Du Chat Syndrome on an individual People with Cri Du Chat Syndrome, do have an ability to lead a normal life, depending on the severeness of the disorder, and how well they manage it. Due to their minor hearing impairments and their trouble of remembering, they might need VARIOUS tools of recall like alarms, clocks, or watches. Due to the their distinctive features, the child might go through bullying at school, but if an adequate amount of counseling is given, their confidence is built, and the possibility would be lowered. Similar to that, saliva control is a major problem of the children with Cri Du Chat Syndrome, because it results in bullying, too. The child cannot control it until a later age, but a minor surgery can resolve that problem. Above all, a child with Cri Du Chat Syndrome requires high amounts of care. Ear infections, dental problems, respiratory problems, feeding issues, and many more are a challenge. But if a child with the Cri Du Chat Syndrome is raised with faith and love, they might lead a normal life like anyone else. Are there any treatments? There is no treatment that can cure an individual with the Cri Du Chat Syndrome. In order for the child to overcome the effects of the disorder, cooperation and care has to come from the parents. Methods of early intervention programs: Physiotherapy
Speech Therapy
Occupational Therapy
Behavioral management Also, the parents' care and encouragement of talking and expressing themselves. The physical incapacities like possible heart defects, respiratory problems, and saliva control problems, have to be resolved with a doctor and possibly with a surgery. -The name of the Cri Du Chat Syndrome means the "cry of the cat" in French. It refers to the distinct cat-like cry of the babies with this syndrome.
-Sometimes very much like ADHD children, doing harmful actions to oneself like banging, hitting, scratching, and biting. In the 39-second video, pay attention to the baby's chest; it rises and falls like a balloon, because they have respiratory issues.
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