Author/Authors :
Guala, Andrea Department of Pediatrics - Castelli Hospital - Verbania - Italy , Spunton, Marianna Department of Pediatrics - Castelli Hospital - Verbania - Italy , Tognon, Fabio Associazione Bambini Cri du Chat (ABC) - S. Casciano in Val di Pesa - Florence - Italy , Pedrinazzi, Marilena Associazione Bambini Cri du Chat (ABC) - S. Casciano in Val di Pesa - Florence - Italy , Medolago, Luisa Associazione Bambini Cri du Chat (ABC) - S. Casciano in Val di Pesa - Florence - Italy , Cerutti Mainardi, Paola Associazione Bambini Cri du Chat (ABC) - S. Casciano in Val di Pesa - Florence - Italy , Spairani, Silvia Child Neuropsychiatry Unit - Department of Brain and Behavioural Sciences - University of Pavia - Pavia - Italy , Malacarne, Michela Laboratory of Human Genetics - E.O. Hospital Galliera - Genova - Italy , Finale, Enrico Department of Pediatrics - Castelli Hospital - Verbania - Italy , Comelli, Mario Department of Brain and Behavioural Sciences - University of Pavia - Pavia - Italy , Danesino, Cesare Department of Molecular Medicine - University of Pavia and IRCCS - S. Matteo - Pavia - Italy
Abstract :
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.
Keywords :
Cri du Chat syndrome (CdC) , Mayer Project (MP) , CdC patients , Psychomotor , Italian Cohorts , Rehabilitation Methods