文档介绍：42例苯丙酮尿症患儿早期诊断治疗与智能发育
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【摘要】目的了解新生儿疾病筛查确诊、治疗的苯丙酮尿症(PKU)患儿的智能发育情况及与临床治疗的依从性关系。方法对1999~2009年经新生儿疾病筛查确诊为苯丙酮尿症的45例中的42例患儿分析其治疗情况,并选用Gesell发育量表对患儿的智能发育水平进行评估。结果 45例PKU患儿2例放弃治疗、1例死亡、42例接受治疗;起始治疗年龄为25~269 d;生后40 d内起始治疗的患儿11例,无智能低下发生;起始治疗时间越早,患儿智能偏低和异常的比例越低,差异有统计学意义();.%(31/42),%(11/42);完全配合治疗组患儿除适应性和语言发育低于正常儿童组得分,差异有统计学意义()外,大运动、精细运动和个人-社交发育与正常儿童组比较,差异均无统计学意义; 不配合组患儿智能发育明显落后,5项观察项目与完全配合治疗组及正常组比较,差异均有统计学意义()。结论新生儿疾病筛查是早期发现PKU患儿的有效方法;患儿起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,可以避免患儿智能水平低下的发生。
【关键词】苯丙酮尿症; 新生儿; 疾病筛查; 智能发育
【Abstract】 Objective To assess the effectiveness of treatment on mental development in 42 children with phenylketonuria. Metho
ds Mental development of 42 children, diagnosed with phenylketonuria (PKU) during 1999 and 2009, was assessed with GESELL developmental schedules. Results Among the 45 cases diagnosed, two cases did not follow the mended treatment and one child died. Among the other 42 cases, 11( %) children reached the normal development quotients (DQ). These 11 children started to receive treatment 40 days after birth. The earlier the treatment began, the lower proportion with low DQ the children had. The percentage of pliance to the treatment reached to %(31/42), and the remaining % (11/42) did pletely follow the treatment mendation. The plianc