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针对普拉德-威利综合征患儿家长的预期指导。

Anticipatory guidance for parents of Prader-Willi children.

作者信息

Nolan Mary Ellen

机构信息

West Care Pediatrics, New York City, USA.

出版信息

Pediatr Nurs. 2003 Nov-Dec;29(6):427-30, 451.

Abstract

Prader-Willi syndrome (PWS) is a complex genetic disorder. It is characterized by hypotonia, short stature, hypogonadism, mental retardation, behavioral problems, and hyperphagia, which result in excessive obesity (Lindgren et al., 2000). The abnormal body composition resembles children seen with growth hormone deficiency (Carrel & Allen, 2001) . The dysmorphic features characteristic of PWS include a narrow forehead, a broad nasal bridge, slightly up slanting almond-shaped palpebral fissures, a down turned mouth with a thin upper lip, and narrow hands and feet (Martin et al., 1998). Management of children with PWS requires an ongoing multidisciplinary approach. The delivery of care includes assistance from geneticists, nutritionists, internists, endocrinologists, physical therapists, and psychologists to meet the medical, developmental, behavioral, and social needs. The focus of the nurse practitioner should include assisting the family in the management of these complex patients throughout their childhood.

摘要

普拉德-威利综合征(PWS)是一种复杂的遗传性疾病。其特征包括肌张力减退、身材矮小、性腺功能减退、智力发育迟缓、行为问题和食欲亢进,这些会导致过度肥胖(林德格伦等人,2000年)。其异常的身体组成类似于生长激素缺乏的儿童(卡雷尔和艾伦,2001年)。PWS的畸形特征包括额头狭窄、鼻梁宽阔、杏仁状睑裂稍向上倾斜、上唇薄的嘴角下垂以及手脚狭窄(马丁等人,1998年)。对PWS患儿的管理需要持续的多学科方法。护理包括遗传学家、营养师、内科医生、内分泌学家、物理治疗师和心理学家的协助,以满足医疗、发育、行为和社会需求。执业护士的工作重点应包括在这些复杂患者的整个童年时期协助家庭进行管理。

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