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Cri-Du-Chat (Cry of the Cat)

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Cri-Du-Chat (Cry of the Cat) By: Emily Renteria Genetic Disorder: Cri-du-chat syndrome is caused by a deletion of the end of the short arm of chromosome 5. – PowerPoint PPT presentation

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Title: Cri-Du-Chat (Cry of the Cat)


1
Cri-Du-Chat (Cry of the Cat)
  • By Emily Renteria

2
Genetic Disorder
  • Cri-du-chat syndrome is caused by a deletion of
    the end of the short arm of chromosome 5.

3
Chromosome Graphic
4
Symptoms/ Effects
  • Cry that is high-pitched and sounds like a cat
  • Downward slant to the eyes
  • Low birth weight and slow growth
  • Low-set or abnormally shaped ears
  • Mental retardation
  • Partial webbing or fusing of fingers or toes
  • Single line in the palm of the hand
  • Skin tags just in front of the ear
  • Slow or incomplete development of motor skills
  • Small head
  • Small jaw
  • Wide-set eyes
  • Feeding problems because of difficulty swallowing
    and sucking
  • Severe cognitive, speech, and motor delays
  • Behavior problems such as hyperactivity,
    aggression, tantrums, and repetitive movements
  • Unusual facial features which may change over
    time

5
Diagnosis
  • Mental retardation is usual. Half of children
    with Cri du chat syndrome learn sufficient verbal
    skills to communicate. The cat-like cry becomes
    less apparent over time.

6
Prognosis
  • The first year, the survival expectation is high
    and morbidity is low. The mortality was about
    10, 75 of which occurred during the first
    months, and up to 90 within the first year.
    Among the cases described in this study, three
    patients have lived to be over 50 years of age.

7
Treatment
  • No specific treatment is available for this
    syndrome. The mental retardation must be
    addressed, and counseling is recommended for the
    parents. Parents of a child with this syndrome
    should have genetic counseling and a karyotype
    test to determine if one parent has
    a rearrangement of chromosome 5.

8
Current Research
  • Updated data have been reported in a recent study
    on the natural history of CdCS in a large series
    of Italian patients. Recent improvements in
    management of patients with CdCS, with the
    application of rehabilitative programs, have led
    to increased psychomotor development, improved
    autonomy and better social adaptation.
  • (CdCS Cri-du-chat Syndrome)

9
Genetic Counseling
  • The following genetic tests may be appropriate
    based on there personal and/or family history.
  • Testing for parents (blood draw)
  • Chromosome analysis
  • Prenatal testing for a pregnant woman
  • Amniocentesis
  • Chorionic villus sampling (CVS)

10
2nd Graphics
11
Great Story Joel.
  • Joel was born 4 weeks early, on 12 Feb. 2002,
    weighing only 1.63kg. He was breathing well,
    feeding well, and he had this a little cry that
    made him sound like a little lost kitten. during
    his hospital stay at about 2 weeks old that
    Joel was diagnosed with Cri Du Chat Syndrome.
    Factors such as his low birth weight, his simian
    creases on both hands, and of course his
    distinctive cat-like cry first alerted his
    doctors to the fact that he may have CDC, and
    chromosome testing confirmed their suspicions.
    By about 6 months of age Joel was enrolled in
    and attending playgroup at our local Special
    Education Development Unit (SEDU). He has been
    seeing speech, physio, and occupational
    therapists since he was a little over one year
    old. Joel also has swimming lessons, not only for
    his own safety, but to help with his strength and
    coordination.
  • Joel first sat up independently at 15 months,
    pulled to stand at 16 months, cruised holding
    on to furniture at 19 months, and started
    climbing onto the furniture at 20 months old. He
    crawled from about 1 year of age, and crawled
    properly at 18 months.

12
Credits
  • http//rarediseases.about.com/cs/criduchatsynd/a/0
    10704.htm
  • http//health.nytimes.com/health/guides/disease/cr
    i-du-chat-syndrome/overview.html
  • http//www.ghr.nlm.nih.gov/condition/cri-du-chat-s
    yndromegenes
  • http//www.ncbi.nlm.nih.gov/pmc/articles/PMC157430
    0/
  • http//www.criduchat.asn.au/criduchat/joel.htm
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