Presentation on theme: "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."— Presentation transcript:
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.
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
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.
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.
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.
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)
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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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.