Cri Du Chat Syndrome Description

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In 1963, Lejeune et al. introduced Cri du Chat (CCS), a rare genetic syndrome that results from a partial or total deletion on the short extension of the 5p (5p15.1—5p15.3) chromosome. This chromosomal loss results from a “de novo” mutation (parents have a normal karyotype) and causes altered brain development, resulting in microencephaly and delayed psychomotor development (Mainardi, 2007). Though CCS is rare, it is one of the most prevalent chromosomal deletion syndromes (i.e. incidence is 1:15,000 to 1:50,000 live births) with slightly more females being affected, but with no significant differences pertaining to race or geographic area (Rodriguez-Cabalerro, 2010). Further, the incidence of CCS amongst the mentally retarded is less than 1 percent and no direct association between CCS and birth order, age of parents, or significant prenatal events has been established (Rodriquez-Caballero, 2010). Diagnosis is critical and is effectuated through karyotype analysis followed by molecular-cytogenetic analysis (FISH); two types have been identified, atypical and typical (i.e. atypical types present with unaffected/deleted critical regions of the chromosome, and, therefore, do not suffer significant learning delays). Through early diagnosis, rehabilitation, preventative techniques, and surgical interventions, motor and mental functioning can increase, which can lead to improved social functioning and a sense of autonomy (Rodriquez-Caballero, 2010). Cri du Chat is highly variable from individual to individual, but is often characterized by low birth weight and small size, despite a full-term pregnancy; growth and development during the first two years is markedly delayed due to feeding difficulties (e.g. dysphagia, muscle hypo... ... middle of paper ... ...syndrome: A critical review. Clinical Linguistics & Phonetics, 22(6), 443-443. doi:10.1080/02699200801892108 Mainardi, P. C., Medolago L. M., Pedrinazzi M. (2007). The Cri Du Chat Syndrome. A.B.C. The Cri Du Chat Children's Association. Retrieved from http://www.criduchat.it/documents/ABCSCDCBookEN.pdf Pituch, K. A., Green, V. A., Didden, R., Whittle, L., O'Reilly, M. F., Lancioni, G. E., & Sigafoos, J. (2009, November 26). Educational Priorities for Children with Cri-Du-Chat Syndrome. Journal of Developmental and Physical Disabilities, 22(1), 65-81. doi: 10.1007/s10882-009-9172-6 Rodriguez-Caballero, A., D. Torres-Lagares, A. Rodriguez-Perez, Ma. Serrera-Figallo, Jm. Hernandez-Guisado, and G. Machuca-Portillo. (2009) Cri Du Chat Syndrome: A Critical Review. Medicina Oral Patología Oral Y Cirugia Bucal, E473-478. doi:10.431 7/medoral. 15.e473

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