Guala Andrea, Spunton Marianna, Tognon Fabio, Pedrinazzi Marilena, Medolago Luisa, Cerutti Mainardi Paola, Spairani Silvia, Malacarne Michela, Finale Enrico, Comelli Mario, Danesino Cesare
Department of Pediatrics, Castelli Hospital, Verbania, Italy.
Associazione Bambini Cri du Chat (ABC), S. Casciano in Val di Pesa, Florence, Italy.
ScientificWorldJournal. 2016;2016:3125283. doi: 10.1155/2016/3125283. Epub 2016 Nov 28.
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.
猫叫综合征(CdC)是一种罕见的遗传性疾病,由5号染色体短臂(5p-)的可变大小缺失引起。众所周知,与机构教养的病例相比,在家抚养的患者表现更好,并且有报道称持续的教育干预可以改善他们的表现。为了评估教育干预的效果并制定新的以猫叫综合征为导向的康复计划,我们比较了两组接受不同康复计划的猫叫综合征患者在多种发育技能方面获得的结果。利用通过意大利语有效翻译的丹佛发育筛查测试II获得的一组猫叫综合征患者的发育数据,我们将一组13名接受为猫叫综合征患者制定的教育计划(梅耶项目,MP)的患者与另一组15名未进行专门针对性护理的患者进行了比较。家长们报告了梅耶项目的积极影响,观察到所获得的社交技能有所改善,即使在研究丹佛测试项目时未观察到显著差异。文中还讨论了猫叫综合征患者个性化护理的必要性以及比较结果的不同方法的选择。