家庭环境对儿童残疾预防影响作用分析--以苯丙酮尿症为例

摘要

Phenylketonuria (commonly known as PKU) is the most common autosomal recessive metabolic genetic disorder in which timely screening and strict diet therapy can prevent intelligence disability. The compliance of participating in neonatal screening and therapy is usually affected by family-related issues:High income, good education and family adherence benefit compliance of screening and therapy of PKU patients. On the contrary, adverse economic status, education level and family adherence mean decreased compliance. Thus, the state and society should put much more investment during the practice of disability prevention. Public education about diseases and disability prevention promotes family participation.%苯丙酮尿症是常见的遗传代谢病，及时筛查和严格饮食治疗可预防患儿出现智力残疾。新生儿筛查和治疗依从性常受家庭因素的影响，经济条件好、受教育水平高和关系和谐的家庭依从性好，筛查和医疗依从性高；反之经济条件差、受教育水平低和关系差的家庭对疾病认识差，筛查和治疗依从性也差，直接影响到患儿的残疾预防效果。因此在残疾预防实践过程中应提高国家和社会投入，加强疾病和残疾预防的公众教育，促进家庭参与的依从性。