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Genetic Disorder

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					CRI DU CHAT SYNDROME

   By Caitlin Butler & DJ Ford
      Other typical characteristics of the CDC -
                   syndrome are :
· low birth weight
· small head circumfence (microcephaly)
· round moonshaped face and low set ears
· small receding chin (micrognathia)
· widely spaced eyes with a low nasal bridge (hypertolerism)
· folds of skin over the upper eyelid (epicanthic folds)
· frequently low muscle tone                Serious physical problems
· minor skeletal abnormalities               happen but they are rare:
· minor visual impairments                          · heart defects
· slight hearing loss
                                               · kidney abnormalities
                                                        · hernias
                                               · cleft lip and/or palate
                                              · skeletal problems like
                                                        scoliosis
                                                   · hip dislocation
 Infants often have poor muscle tone, difficulty with sucking and
 swallowing and gastric reflux. Chronic constipation is very
 common throughout life. Many children experience frequent ear
 and upper respiratory infections.
For comparison here are two sets of chromosomes (kariotypes):
           one normal and the other typically CDC


• NORMAL
CDC
     Steven - El Paso, Texas
                    • 21 Years old
• 3 weeks old
• A small percentage of children with CDC don't walk , don't
  speak and some have serious medical problems with a
  reduced life-span. However it seems that the majority,
  despite a number of persistent minor health problems, thrive
  and live well into adulthood.
  They generally walk between 2 and 6 years of age and
  partly speak well enough that the family and other familiar
  persons understand most of their communication.
• At birth nobody can determine how much a child will be
  affected by CDC.
• Children and adults with the CDC syndrome are kind
  and happy people.
• They enjoy participating in social life (strolling through
  town etc.)
• However, the best course of action for careers is the
  optimization of the childs developmental potential:
     Developmental
                        Normal Development   Children with CDC
        Milestone
Smile                          1,5                  4
Laugh                           2                   5
Grasp objects                   3                   8
Roll over                       3                   5
Pull to stand                  3,5                  22
Reach objects                   4                   7
Crawl                          4,5                  20
Sit alone                       5                   14
Transfer objects                6                   12
Babble                          7                   14
Discover surrounding           9,5                  30
Say 1st word                   10                   23
Understand directions          10                   36
Walk alone                     12                   43
Toilet trained                 24                   90
Dress self                     42                   78
    Early Intervention Programs
•   Physiotherapy
•   Speech Therapy
•   Occupational Therapy
•   Behavioral management
    Education and Treatment
• Many Children with    • There is no specific
  CDC attend              treatment for this
  mainstream, special     disease.
  schools, and
  sometimes pre
  school.
 Sources from where I got my info
• www.criduchat.asn.au
• Photos and stories

				
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posted:2/13/2012
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