Ganji Foruzan, Naseri Hooshang, Rostampour Noushin, Sedighi Mozhde, Lotfizadeh Masoud
Department of Community Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Shahrekord University of Medical Sciences, Shahrekord, Iran.
Acta Med Iran. 2018 Jan;56(1):49-55.
Phenylketonuria is one of the most important congenital disorders and an autosomal recessive metabolic disease that can cause irreversible brain damages, mental retardation, and cognitive disorders if left untreated. In order to reduce the genetic abnormalities caused by this metabolic disease, screening programs are implemented. The quality of the program must be properly assessed to achieve the objectives of this program if promoting children's health is of concern. The descriptive-analytic method is adopted here to assess the phenylketonuria screening program in practice in Chaharmahal and Bakhtiari province since 2012 and analyze the incidence and program coverage. The quality of the screening program is assessed through analyzing the time of diagnosis, beginning of the treatment and the healthcare centers' facilities with checklists. The parental and the staff awareness is assessed through knowledge measuring questionnaires. Cumulative incidence of phenylketonuria in Chaharmahal and Bakhtiari province from 2012 to 2015, is 1 in every 6662 live births. The program coverage across the region is 100%. The recorded on-time sampling index before 5 days of age, indicate 84.6 % in 2015 from 80% in 2012. The treatment begun before the newborn 4 weeks was over in all cases. Program sensitivity was 100 %, and its specificity was 99.9%. Staff awareness is fair with no impact on parental awareness. General quality of the screening program is appropriate, and as to sensitivity and on-time curing specificity, higher staff and parental awareness supervision are recommended as well.
苯丙酮尿症是最重要的先天性疾病之一，是一种常染色体隐性代谢疾病，如果不进行治疗，会导致不可逆转的脑损伤、智力迟钝和认知障碍。为了减少这种代谢疾病引起的基因异常，实施了筛查项目。如果关注促进儿童健康，就必须对该项目的质量进行适当评估，以实现该项目的目标。本文采用描述性分析方法，对2012年以来恰哈马哈勒-巴赫蒂亚里省实际开展的苯丙酮尿症筛查项目进行评估，并分析发病率和项目覆盖情况。通过使用检查表分析诊断时间、治疗开始时间以及医疗中心的设施来评估筛查项目的质量。通过知识测量问卷评估家长和工作人员的认知情况。2012年至2015年，恰哈马哈勒-巴赫蒂亚里省苯丙酮尿症的累积发病率为每6662例活产中有1例。该项目在整个地区的覆盖率为100%。记录的5日龄前的准时采样指数显示，从2012年的80%上升到了2015年的84.6%。所有病例均在新生儿4周前开始治疗。项目敏感性为100%，特异性为99.9%。工作人员的认知情况尚可，但对家长的认知没有影响。筛查项目的总体质量是合适的，就敏感性和准时治愈特异性而言，建议加强对工作人员和家长认知情况的监督。
