Saenz R B
Department of Family Medicine, University of Mississippi Medical Center, Jackson 39216, USA.
Am Fam Physician. 1999 Jan 15;59(2):381-90, 392, 395-6.
Down syndrome is caused by triplicate material of chromosome 21. The syndrome has a variable physical expression, but congenital cardiac defects, transient myelodysplasia of the newborn and duodenal atresia are highly specific for this chromosomal disorder. Routine health maintenance is important because infants and children with Down syndrome are more likely to have otitis media, thyroid disease, congenital cataracts, leukemoid reactions, dental problems and feeding difficulties. Since infants with this syndrome are prone to respiratory infections, immunization recommendations should be followed closely. Motor, language, social and adaptive skills should be assessed at each office visit. The psychosocial aspects of care should be discussed with the parents of an infant with Down syndrome. If necessary, the parents should be referred to family support and specialty resources. Institutionalization of infants with Down syndrome is now unlikely. With newer surgical techniques, early therapy to minimize developmental delay and proper health supervision, the functional prognosis for infants with Down syndrome is considerably improved.
唐氏综合征是由21号染色体三体所致。该综合征有多种身体表现,但先天性心脏缺陷、新生儿短暂性骨髓发育异常和十二指肠闭锁对这种染色体疾病具有高度特异性。常规的健康维护很重要,因为唐氏综合征患儿更易患中耳炎、甲状腺疾病、先天性白内障、类白血病反应、牙齿问题和喂养困难。由于患有该综合征的婴儿易患呼吸道感染,应严格遵循免疫接种建议。每次门诊就诊时都应评估运动、语言、社交和适应能力。应与唐氏综合征患儿的父母讨论护理的心理社会方面。如有必要,应将父母转介至家庭支持和专业资源处。现在,唐氏综合征患儿不太可能被送进福利院。随着更新的外科技术、旨在尽量减少发育迟缓的早期治疗以及适当的健康监管,唐氏综合征患儿的功能预后有了显著改善。