title: Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods.
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.
authors.affiliation: Department of Pediatrics, Castelli Hospital, Verbania, Italy.
authors.forename: Andrea
authors.identifier: 0000-0001-6778-7790
authors.initials: A
authors.lastname: Guala
authors.affiliation: Department of Pediatrics, Castelli Hospital, Verbania, Italy.
authors.forename: Marianna
authors.initials: M
authors.lastname: Spunton
authors.affiliation: Associazione Bambini Cri du Chat (ABC), S. Casciano in Val di Pesa, Florence, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Tognon
authors.affiliation: Associazione Bambini Cri du Chat (ABC), S. Casciano in Val di Pesa, Florence, Italy.
authors.forename: Marilena
authors.initials: M
authors.lastname: Pedrinazzi
authors.affiliation: Associazione Bambini Cri du Chat (ABC), S. Casciano in Val di Pesa, Florence, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Medolago
authors.affiliation: Associazione Bambini Cri du Chat (ABC), S. Casciano in Val di Pesa, Florence, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Cerutti Mainardi
authors.affiliation: Child Neuropsychiatry Unit, Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Spairani
authors.affiliation: Laboratory of Human Genetics, E.O. Hospital Galliera, Genova, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.affiliation: Department of Pediatrics, Castelli Hospital, Verbania, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Finale
authors.affiliation: Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Comelli
authors.affiliation: Department of Molecular Medicine, University of Pavia and IRCCS, S. Matteo, Pavia, Italy.
authors.forename: Cesare
authors.initials: C
authors.lastname: Danesino
mesh_terms: D002648:Child; D002675:Child, Preschool; D003410:Cri-du-Chat Syndrome / Q000503:physiopathology* / Q000534:rehabilitation*; D005260:Female; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D011597:Psychomotor Performance