Morris J
J Neurosci Nurs. 1990 Oct;22(5):285-93.
Rett's syndrome, first described in Austria in 1966 by Dr. Andreas Rett, became known as such in 1983 when Dr. Bengt Hagberg in Sweden realized that he and his colleagues from France and Portugal were not the first to recognize this disorder. In Sweden the syndrome was found to occur in at least 1 per 15,000 female births by 1985, about twice that of phenylketonuria (PKU) in the same area. The syndrome is limited to girls and involves atrophy of the brain with loss of previously learned cognitive and motor skills after eighteen months of age. Although there are variations in the numerous clinical features, most girls develop seizures, muscle wasting, contractures, severe weight loss and bizarre behaviors. All races are affected and four clinical stages have been established. Nurses are more likely to become involved during the final stage of this disorder when families can no longer cope without professional intervention. A case study of a 9 year-old girl is presented.
雷特综合征于1966年由奥地利的安德烈亚斯·雷特医生首次描述，1983年，瑞典的本特·哈格伯格医生意识到他和来自法国及葡萄牙的同事并非首个识别出这种病症的人，雷特综合征由此为人所知。到1985年，在瑞典发现该综合征在每15000例女性出生中至少出现1例，约为同一地区苯丙酮尿症（PKU）发病率的两倍。该综合征仅限于女孩，会导致大脑萎缩，并在18个月大后丧失此前习得的认知和运动技能。尽管众多临床特征存在差异，但大多数女孩会出现癫痫发作、肌肉萎缩、挛缩、严重体重减轻和怪异行为。所有种族都会受到影响，并且已确定了四个临床阶段。在这种病症的最后阶段，当家庭在没有专业干预的情况下无法应对时，护士更有可能参与进来。本文呈现了一名9岁女孩的病例研究。
