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Cri-Du-Chat Syndrome

Cri-Du-Chat Syndrome. Syndrome Presentation EDSP 350 Intellectual and Developmental Disabilities Spring 2014 Keisha Sawyers. 8 Months old 2 years old 4 years old 9 years old. ( Mainard ). (5pMinusSocietyUSA, 2013). 5p- (minus) Syndrome Chromosome 5p Deletion Syndrome Cat Cry Syndrome.

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Cri-Du-Chat Syndrome

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  1. Cri-Du-Chat Syndrome Syndrome Presentation EDSP 350 Intellectual and Developmental Disabilities Spring 2014 Keisha Sawyers

  2. 8 Months old2 years old4 years old9 years old (Mainard)

  3. (5pMinusSocietyUSA, 2013) 5p- (minus) Syndrome Chromosome 5p Deletion Syndrome Cat Cry Syndrome

  4. Specifics and Diagnosis • It is a genetic condition • Not usually inherited. • Parents can get a chromosome analysis to find out the exact deletion measurement. • Example Analysis • 10.7 mb deletion of 5p15.33p 15.2 and a 46 mb duplication of 10q 23.2 q 26.3.

  5. Causes • deletion of genetic material on the small arm (the p arm) of Chromosome 5 ("Cri-Du-Chat Syndrome Overview")

  6. Physical Characteristics • Wide set eyes with a downward slant • Low birth weight and slow growth • Low set or abnormally shaped ears • Webbing/fusing of fingers or toes • Single line in the palm of the hand • Skin tags in from of the ear • Small Head (microcephaly) • Small Jaw (micrognathia) ("New York Times" )

  7. Other Characteristics • High Pitched cry- Sounds like a cat • Intellectual Disability • Slow or incomplete development of motor skills ("New York Times" )

  8. Mosaic and Cri-Du-Chat • Some cells are affected; some are not. Only 30% of her cells are affected. • “For Me it was learning how to talk, sensory overdrive, I don't like social situations, I prefer my own company, getting my balance right when I am walking” • Tulips represent all of her milestones and achievements • She is 29 years old CDC/5p-Society Facebook

  9. (5pMinusSocietyUSA, 2013)

  10. Treatments • No drugs are available for treatment • Early Intervention is recommended • Physical therapy – Physical & Motor Skills • Communication – Speech Therapy • Behavioral modification • Learning

  11. Professional Organizations • http://www.criduchat.org/index.php/contact/ • contacts around the world • https://www.facebook.com/groups/385907554759706/ • Facebook Support Group • http://livingwithcriduchatmosaicism.blogspot.co.nz/2014/01/my-tulipsmy-milestones.html • Blog • http://www.harrysfund.co.uk/muse/ • Fundraising, Support Group, Education, Awareness

  12. Statistics • 1:35,000 newborns Mainard

  13. Cri DU CHAT SYNDROME Awareness Week

  14. "Health Guide : Cri-Du-Chat Syndrome." New York Times 08 04 2011, n. pag. Web. 25 Jan. 2014. <http://www.nytimes.com/health/guides/disease/cri-du-chat-syndrome/overview.html>. Cri du Chat syndrome Paola CerrutiMainardiOrphanet J Rare Dis. 2006; 1: 33. Published online 2006 September 5. doi: 10.1186/1750-1172-1-33PMCID: PMC1574300 5pMinusSocietyUSA. (2013). International cri du chat syndrome awareness video (phase 1) [Web]. Retrieved from http://www.youtube.com/watch?v=La1D4cNQ5kQ References CDC/5-Society FACEBOOK SUPPORT GROUP https://www.facebook.com/groups/385907554759706/ U.s Department of Health & Human Services. Office of Rare Disease Research. Cri-Du-Chat Syndrome Overview. 2010. Web. <http://rarediseases.info.nih.gov/gard/6213/resources/resources/1>. All Images : Googled Cri-Du- Chat Syndrome

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