Cri Du Chat Syndrome Description Essay

2933 Words 12 Pages
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 …show more content…
Further, of those diagnosed, 83.5 percent will exhibit a moonface, which then evolves into a vertical growth pattern and an elongated, narrow face with wide-set eyes. CCS babies present with small jaws and retracted chins (Mainardi, 2007). These children tend to be habitual droolers due to swallowing difficulties, hypersensitive to sounds (awaken easily at night) often have attentional difficulties, and may be hyperactive, though this finding is controversial (Rodriguez-Caballero, 2010). It is essential to use a soft, clear voice and maintain direct eye contact to engage successfully with them. It should be noted that these children tend to exhibit loving personalities, despite displaying excessive happiness, stubbornness, repetitive movements, and self-aggression (e.g. biting, hitting the head). Moreover, they are able to effectively express their needs, establish relationships, and develop essential motor skills. Many find jobs, and life expectancy is good, with some living past age 60 (Mainardi, 2007).

Because there is often neurosensory deafness and a delay in speaking, an audiometric examination is required of all CCS children. An estimated 50 percent of those afflicted will say “mummy and daddy” by age 3 and can combine two different words at around age 5 (Mainardi, 2007). Receptive language skills exceed expressive, and logopaedic

Related Documents