1 / 14

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.

mikel
Télécharger la présentation

Cri-Du-Chat Syndrome

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related