Total amount: € 0,00
Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,532
Online ISSN 1827-1715
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
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.