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Cri Du Chat

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PRESENTATION OUTLINE

CRI DU CHAT

5P DELETION, 5P MINUS, CAT CRY SYNDROME, & LEJEUNE SYNDROME

GROUP MEMBERS

  • Carson Schneekloth
  • Ella Mulder
  • Trinity Schutz
  • Claire Kolander

CAUSES OF CRI DU CHAT SYNDROME

  • Chromosome deletion
  • Deletion is in the p arm: (short part of the chromosome) (all human chromosomes have 2 arms short (p) long (q)
  • Usually effects females more than males

DIAGNOSES

  • It can be diagnosed at birth
  • If they don't see chromosome 5 on the chromosome analysis there is a genetic test called FISH it may be able to see the deletion on the analysis
  • FISH (fluorescence in situ hybridization)

SYMPTOMS

  • Developmental delays
  • High pitched cat like cry
  • Mental retardation
  • Distinctive facial features
  • Smaller head
  • Widely spaced eyes

DAILY DIFFICULTIES

  • Speaking tends to be harder
  • Eating (they need help feeding themselves)
  • Getting dressed
Photo by Marc Wathieu

THERAPIES

  • Speech therapy
  • Physical therapy to improve muscle tone
  • Occupational therapy to teach strategies and new skills in life

EXTRA INFORMATION

  • There have a normal life expectancy
  • They live happy fulfilled lifes
  • They sometimes use other communication alternatives (sign language)

They are doing further research to find a treatment on this syndrome.

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