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

机译:Cri du Chat综合征的精神运动发育:两种采用不同康复方法的意大利队列的比较

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摘要

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.
机译:Cri du Chat综合征(CdC)是一种罕见的遗传病,由5号染色体(5p-)短臂的可变大小缺失引起。众所周知,家庭护理患者比住院患者的表现更好,据报道,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面向CdC的康复计划,我们比较了接受两种不同康复计划的两组CdC患者在许多发展技能方面获得的结果。使用通过丹佛发育筛查测试II的经过验证的意大利语翻译获得的一组CdC患者的发展数据,我们比较了接受针对CdC患者开发的教育计划(Mayer Project(MP))的13名患者与第二名15例中没有特别关注的患者。父母报告了MP的积极影响,观察到社交技能的提高,即使在研究丹佛测验的项目时未观察到显着差异。还讨论了CdC患者个性化护理的需求以及比较结果的不同方法的选择。

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