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一名患有威廉姆斯综合征患者的工作经历:罗马儿童医院的一个试点项目。

The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children's Hospital.

作者信息

De Lorenzo Francesca, Macchiaiolo Marina, Carlevaris Carla Maria, Bartuli Andrea

机构信息

Bambino Gesù Children's Hospital, Rome, Italy.

出版信息

Orphanet J Rare Dis. 2017 May 31;12(1):107. doi: 10.1186/s13023-017-0657-6.

Abstract

A new approach has been designed at the Bambino Gesù Children's Hospital in Rome aimed at increasing empowerment in Williams Syndrome individuals through tutor-assisted work activities. Williams Syndrome is characterized by a combination of distinguishing physical traits, congenital anomalies, intellectual disabilities, and a specific developmental profile.This manuscript describes the case of a Williams Syndrome patient.There are only few papers in the scientific literature describing interventions targeting improvement in the quality of life of adult Williams Syndrome individuals. Therefore, this experience may prove useful to several patients, their families, and the experts helping them.We described an example of intervention aimed at guiding and facilitating a Williams Syndrome patient within a work environment, taking into consideration the peaks and valleys of these individuals' specific abilities.Based on our results, we also stressed the need to promote a set of projects and initiatives aimed at enhancing as much as possible self-sufficiency and psycho-affective balance in Williams Syndrome individuals, in order to protect their dignity and self-esteem.

摘要

罗马的圣婴儿童医院设计了一种新方法,旨在通过导师辅助的工作活动增强威廉姆斯综合征患者的自主能力。威廉姆斯综合征的特征是独特的身体特征、先天性异常、智力残疾和特定的发育概况相结合。本文描述了一名威廉姆斯综合征患者的病例。科学文献中仅有少数论文描述了针对改善成年威廉姆斯综合征患者生活质量的干预措施。因此,这一经验可能对许多患者、他们的家庭以及帮助他们的专家有用。我们描述了一个干预示例,旨在在工作环境中指导和帮助一名威廉姆斯综合征患者,同时考虑到这些个体特定能力的起伏。基于我们的结果,我们还强调需要推动一系列项目和举措,以尽可能增强威廉姆斯综合征患者的自给自足能力和心理情感平衡,从而维护他们的尊严和自尊。

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本文引用的文献

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Williams syndrome: a multidisciplinary approach to care.威廉姆斯综合征:多学科护理方法
Pediatr Ann. 2009 Aug;38(8):456-63. doi: 10.3928/00904481-20090723-10.
8
Williams syndrome: 15 years of psychological research.威廉姆斯综合征:十五年的心理学研究
Dev Neuropsychol. 2003;23(1-2):1-12. doi: 10.1080/87565641.2003.9651884.
10
Prevalence estimation of Williams syndrome.威廉姆斯综合征的患病率估计
J Child Neurol. 2002 Apr;17(4):269-71. doi: 10.1177/088307380201700406.

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