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

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

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Page 1: 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

Cri-Du-Chat(Cry of the Cat)

By: Emily Renteria

Page 2: 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

Genetic Disorder:

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

of chromosome 5.

Page 3: 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

Chromosome Graphic:

Page 4: 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

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

Page 5: 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

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.

Page 6: 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

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.

Page 7: 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

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.

Page 8: 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

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)

Page 9: 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

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)

Page 10: 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

2nd Graphics:

Page 11: 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

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.

Page 12: 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

Credits:

• http://rarediseases.about.com/cs/criduchatsynd/a/010704.htm

• http://health.nytimes.com/health/guides/disease/cri-du-chat-syndrome/overview.html

• http://www.ghr.nlm.nih.gov/condition/cri-du-chat-syndrome#genes

• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1574300/

• http://www.criduchat.asn.au/criduchat/joel.htm