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1999-2009年经新生儿疾病筛查确诊的PKU患儿42名,选用Gesell发育量表评估患儿智力发育情况。结果 42例PKU患儿全部接受治疗,有73.8%患儿智能发育达正常水平。生后90天内即开始治疗的33例PKU患儿无一例智力低下发生,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差异有统计学意义(P<0.01)。治疗过程中苯丙氨酸(phe)控制水平与预后呈负相关关系。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。若患儿能在生后一个月内治疗,同时家长给予配合,严格控制血phe浓度是改变疾病结局的关键因素,可以避免智力低下的发生。

Objective To understand the relation between intelligence development and treatment compliance in Phenylketonuria children.Methods The intelligence development of 45 children diagnosed as Phenylketonuria(PKU) children through neonatal screening program from 1999 to 2009 were evaluated with GESELL intelligent test.Results All of the 42 PKU children had received treatment.73.8% of them had reached a normal mental development level.No deterioration quotient(DQ) has been found in 33 cases who begin to receive treatment within 90 days after birth.Among these,the intelligence developments of 31 cases whose parents could compliant with the treatment fully were normal completely.The difference of intelligence development between compliance and non-compliance group was statistically significant.(P<0.01.The control level of phenylalanine(phe) during treatment had a negative relationship with prognosis.Conclusion Neonatal screening was an effective method for the early detection of PKU children The commencement time of treatment and the compliance of parents could affect the treatment effect of PKU children directly.If the children could get the treatment in a month after birth with their parents'active cooperation,low DQ could be prevented.