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Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods

The Cri du Chat syndrome (CdC) is a rare genetic disorder caused by variable size deletions of the short arm of chromosome 5 (5p−). It is well known that home-reared patients show better performances as compared to institutionalised cases, and it was reported that continuous educational intervention...

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Autores principales: Guala, Andrea, Spunton, Marianna, Tognon, Fabio, Pedrinazzi, Marilena, Medolago, Luisa, Cerutti Mainardi, Paola, Spairani, Silvia, Malacarne, Michela, Finale, Enrico, Comelli, Mario, Danesino, Cesare
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149647/
https://www.ncbi.nlm.nih.gov/pubmed/28004033
http://dx.doi.org/10.1155/2016/3125283
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author Guala, Andrea
Spunton, Marianna
Tognon, Fabio
Pedrinazzi, Marilena
Medolago, Luisa
Cerutti Mainardi, Paola
Spairani, Silvia
Malacarne, Michela
Finale, Enrico
Comelli, Mario
Danesino, Cesare
author_facet Guala, Andrea
Spunton, Marianna
Tognon, Fabio
Pedrinazzi, Marilena
Medolago, Luisa
Cerutti Mainardi, Paola
Spairani, Silvia
Malacarne, Michela
Finale, Enrico
Comelli, Mario
Danesino, Cesare
author_sort Guala, Andrea
collection PubMed
description The Cri du Chat syndrome (CdC) is a rare genetic disorder caused by variable size deletions of the short arm of chromosome 5 (5p−). It is well known that home-reared patients show better performances as compared to institutionalised cases, and it was reported that continuous educational intervention can ameliorate their performances. To assess the efficacy of educational intervention and to develop new CdC oriented programs of rehabilitation, we compare the results obtained for many developmental skills in two groups of CdC patients undergoing two different rehabilitation programs. Using data on the development of a group of CdC patients obtained by validated Italian translation for the Denver Developmental Screening Test II, we compared a group of 13 patients undergoing an educational program developed for CdC patients, the Mayer Project (MP), with a second group of 15 cases in whom caring was not specifically oriented. A positive impact of the MP was reported by parents, observing an improvement in social skills obtained, even if no significant differences were observed when the items of the Denver Test are studied. The need for personalized care in CdC patients and the choice of different methods to compare the results are also discussed.
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spelling pubmed-51496472016-12-21 Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods Guala, Andrea Spunton, Marianna Tognon, Fabio Pedrinazzi, Marilena Medolago, Luisa Cerutti Mainardi, Paola Spairani, Silvia Malacarne, Michela Finale, Enrico Comelli, Mario Danesino, Cesare ScientificWorldJournal Research Article The Cri du Chat syndrome (CdC) is a rare genetic disorder caused by variable size deletions of the short arm of chromosome 5 (5p−). It is well known that home-reared patients show better performances as compared to institutionalised cases, and it was reported that continuous educational intervention can ameliorate their performances. To assess the efficacy of educational intervention and to develop new CdC oriented programs of rehabilitation, we compare the results obtained for many developmental skills in two groups of CdC patients undergoing two different rehabilitation programs. Using data on the development of a group of CdC patients obtained by validated Italian translation for the Denver Developmental Screening Test II, we compared a group of 13 patients undergoing an educational program developed for CdC patients, the Mayer Project (MP), with a second group of 15 cases in whom caring was not specifically oriented. A positive impact of the MP was reported by parents, observing an improvement in social skills obtained, even if no significant differences were observed when the items of the Denver Test are studied. The need for personalized care in CdC patients and the choice of different methods to compare the results are also discussed. Hindawi Publishing Corporation 2016 2016-11-28 /pmc/articles/PMC5149647/ /pubmed/28004033 http://dx.doi.org/10.1155/2016/3125283 Text en Copyright © 2016 Andrea Guala et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Guala, Andrea
Spunton, Marianna
Tognon, Fabio
Pedrinazzi, Marilena
Medolago, Luisa
Cerutti Mainardi, Paola
Spairani, Silvia
Malacarne, Michela
Finale, Enrico
Comelli, Mario
Danesino, Cesare
Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods
title Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods
title_full Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods
title_fullStr Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods
title_full_unstemmed Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods
title_short Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods
title_sort psychomotor development in cri du chat syndrome: comparison in two italian cohorts with different rehabilitation methods
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149647/
https://www.ncbi.nlm.nih.gov/pubmed/28004033
http://dx.doi.org/10.1155/2016/3125283
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