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Minerva Pediatrica 2012 August;64(4):395-400

Copyright © 2012 EDIZIONI MINERVA MEDICA

language: Italian

The cri du chat syndrome: a study on the quality of care

Cerruti Mainardi P. 1, Spunton M. 1, Arcuri V. 1, Pastore G. 1, Pedrinazzi M. 2, Nardi S. 3, Castronovo C. 4, Alessi D. 5, Guala A. 6

1 SOC Pediatria-Genetica Clinica, Ospedale S. Andrea, Vercelli, Italia; 2 Fisioterapista, logopedista, riabilitatore visivo libero professionista, Milano, Italia; 3 Centro di riabilitazione AXIA-COP, Bologna, Italia; 4 Laboratorio di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano, Milano, Italia; 5 Dipartimento di Epidemiologia, Università degli studi di Torino, Torino, Italia; 6 Ambulatorio di Genetica Clinica, SOC Pediatria, Ospedale Castelli, Verbania, Italia


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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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