家庭环境对儿童残疾预防影响作用分析.PDFVIP

. . / 专题研究 家庭/Monographic Study Family 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 ■冯善伟 【摘要】 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。 【关键词】 苯丙酮尿症；筛查；治疗；依从性；家庭环境；残疾预防 The Impact of Family-related issues on Child Disability Prevention Deduced from Compliance of Phenylketonuria Screening and Therapy FENG Shan-wei 【 】 Abstract 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. 【 】PKU; Screening; Therapy; Compliance; Family-related issues; Disability prevention Key words [ 中图分类号 ]C913.69 [ 文献标识码 ]A [ 文章编号 ]2095-0810(2014)13-0032-03 引言 算每年约有 1200 ～ 2200 名 PKU 新患者出生，社会 2006 年全国第二次残疾人抽样调查数据显示， 上患者总数可达 10 ～ 12 万，给家庭和社会带来沉 我国 0 ～ 17 岁各类残疾儿童共计 504.3 万，约占残 [3-5］ 重的精神和经济负担 。PKU 是由于苯丙氨酸羟 疾人总数的 6.08%。儿童时期的残疾常持续终生，给 化酶缺乏或活性下降、血中苯丙氨酸聚集致中枢神经 患儿本人、家庭和社会带来沉重的精神负担和经济负 系统受损所致。新生儿期PKU患儿无任何