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Cri-Du-Chat

Cri-Du-Chat. By. Stephanie Robson. Raising awareness. First annual cri-du chat week. Cri-Du-Chat. Also known as Chromosome 5P deletion syndrome, 5P minus syndrome or Lejeures syndrome. Rare genetic disorder where the child is missing part of chromosome 5

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Cri-Du-Chat

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  1. Cri-Du-Chat • By. Stephanie Robson

  2. Raising awareness First annual cri-du chat week

  3. Cri-Du-Chat • Also known as Chromosome 5P deletion syndrome, 5P minus syndrome or Lejeures syndrome. • Rare genetic disorder where the child is missing part of chromosome 5 • Cri-Du-Chat is the French term for cat cry • No specific treatment- ongoing PT and ST

  4. Defining Characteristics The cry of a child with Cri-Du-Chat is like that of a meowing kitten. This is due to an underdeveloped larynx and nervous system • 1/3 of children will lose the cry by age 2 as the larynx grows with the child • 30% of children will also have congenital heart disease • Intellectual disabilities

  5. Other Symptoms • Feeding problems- difficulty sucking and swallowing • Low birth weight/ poor growth • Facial features- down turned mouth, flat nasal bridge, small head, round face with full cheeks, low set ears • Excess drool • Poor muscle tone • Constipation • Behavioral issues- hyperactivity, aggression, tantrums • May have limited speech ability if they are able speak will lack fluency

  6. Prevalance • 1 in 50,000 live births • strikes all ethnicities • More common in females with a 4:3 ratio

  7. Providers Role • Learn as much as possible about the disorder and the specific symptoms the child exhibits • Work with and follow the recommendations of all the therapies that are working with the child • Open communication with parents • Training will be based on specific goals for the child and therapy needs

  8. Family Centered Approach • Be SUPPORTIVE of the family and their needs • Find out their goals for their child and help them to be achieved • Communication!!!!! Social Emotional… Focus on the positives- what the child can do for themselves to build self confidence Maintain a calm environment and provide consistency Physical Development… plan activities for the child to expend energy while developing hand/eye coordination If the child becomes over active redirect to a quiet activity or play soft music Follow guidelines of PT

  9. LanguageandCommunication… Have a daily plan- consistency is key Provide picture clues so the child can anticipate what comes next Use clear simple instructions Use recommendations of ST- may include simple signs Cognitive Development… Give instructions in a way the child can understand Set goals that are achievable Each child will be individual in their needs and abilities!!!

  10. Resources • Cri du chat - Wikipedia, the free encyclopediahttp://en.wikipedia.org/wiki/Cri_du_chat • Welcome to the 5P- Society - Support Group for Children with Cri du ... http://www.fivepminus.org/ • Genetic Science Learning Center (1969, December 31) Cri-du-Chat Syndrome. Learn.Genetics. Retrieved May 9, 2012, from http://learn.genetics.utah.edu/content/disorders/whataregd/cdc/ • Fact Sheet http://www.noahsark.net.au/_literature_78252/Cri-Du-Chat 

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