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  • Title: [The Cri du Chat syndrome: a study on the quality of care].
    Author: Cerruti Mainardi P, Spunton M, Arcuri V, Pastore G, Pedrinazzi M, Nardi S, Castronovo C, Alessi D, Guala A.
    Journal: Minerva Pediatr; 2012 Aug; 64(4):395-400. PubMed ID: 22728611.
    Abstract:
    AIM: The Cri du Chat syndrome (SCdC / [OMIM #123450]) is a rare disease characterized by the deletion of the short arm of chromosome 5. The typical clinical features are the cat-like cry, microcephaly, a distinct facial phenotype and a severe psychomotor and mental retardation. The aim of this study was to provide an analysis on the data concerning the life quality and families assistance to whom have a child affected by Cri du Chat syndrome such as: the life's change of parents after the child's birth, the frequency of treatments, the collaboration between family and center of reference. METHODS: We have also analyzed the improvement obtained, the type of school attended, the aide and the time spent at home in postprimary education. Through a questionnaire sent to 100 families, we have been picked up information on 76 patients. RESULTS: These families have to adapt to the reality of a child with a rare genetic disorder for which there are no pharmacological or surgical therapies. CONCLUSION: Therefore, it seems important to give information and tips for dealing with the disease and the early start of rehabilitation and educational therapy.
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