【摘要】 目的 了解经新生儿疾病筛查确诊治疗的苯丙酮尿症(PKU)患儿的智力发育情况与其临床治疗依从性关系。方法 自1999年～2009年经新生儿疾病筛查确诊的苯丙酮尿症患儿45名，选用0～6岁儿童神经心理发育量表评估患儿智力发育情况。结果 45例PKU患儿，除2例放弃治疗、1例死亡之外，治疗的42例患儿，有73.8%患儿智能发育达正常水平。生后40 d内即开始治疗的11例PKU患儿，和家长完全配合治疗的31例患儿,全部智能发育正常。完全配合治疗组、不配合治疗组患儿智力发育程度存在显著性差异。结论 新生儿疾病筛查是早期发现PKU患儿的有效方法，患儿开始治疗时间的早晚及家长配合治疗程度直接影响患儿治疗效果。若患儿能在生后1个月内治疗，同时家长给予配合，可以避免智力低下的发生。
【关键词】 新生儿筛查; 苯丙酮尿症; 智力发育
Analysis of mental development status and relevant factors on 45 Phenylketonuria children LI Zhuoying , WANG Wei , LIU Yang , et al. (Maternal and Infant Health Hospital of Heilongjiang Province, Neonatal Screening Center of Heilongjiang Province, Harbin, Heilongjiang 150008, China)
【Abstract】 Objective To estimate the relation of intelligence development and treatment cooperativity in Phenylketonuria children.Methods The intelligence development of 45 phenylketonuria (PKU) children (diagnosed as PKU through neonatal screening program from 1999 to 2009) were estimated with GESELL intelligence test.Results Among the 45 cases, 2 cases gave up treatment and one child died. Among the other 42 cases receiving treatment, 31 reached the normal development quotient (DQ) (73.3%); 11 children started to accept treatment 40 days after birth; 31 children and their parents cooperated with doctors actively. The 42 children got normal DQ. There was a significant difference between totally cooperative group and uncooperative group in intelligence development.Conclusion Neonatal screening is the effective way in finding PKU children early. The early treatment and cooperation from parents directly influence the curative result of the PKU children. If the children could get the treatment in a month after birth with their parent s active cooperation, low DQ could be prevented.
【Key words】 Newborns, screening; Phenylketonuria (PKU); Intelligence development
苯丙酮尿症(PKU)是较常见的遗传性氨基酸代谢病，是由于肝细胞苯丙氨酸羟化酶活性的减低导致苯丙氨酸(phe)及其代谢产物在体内蓄积，从而影响中枢神经系统发育，引起严重智能发育落后。通过新生儿疾病筛查使PKU患儿得以早期诊断，
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