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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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Cri du chat

Cri-Du-Chat

  • By. Stephanie Robson


Raising awareness

Raising awareness

First annual cri-du chat week


Cri du chat1

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


Defining characteristics

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


Other symptoms

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


Prevalance

Prevalance

  • 1 in 50,000 live births

  • strikes all ethnicities

  • More common in females with a 4:3 ratio


Providers role

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


Family centered approach

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


Cri du chat

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!!!


Resources

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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