Cri-Du-Chat (Cry of the Cat)

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Cri-Du-Chat(Cry of the Cat)

• By Emily Renteria

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Genetic Disorder

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

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Chromosome Graphic
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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

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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.

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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.

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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.

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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)

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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)

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2nd Graphics
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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.

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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