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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 investigate the relationship between mental development and clinical compliance in children with phenylketonuria (PKU) diagnosed by neonatal screening. Methods Forty-two children with PKU diagnosed by neonatal screening from 1999 to 2009 were enrolled in this study. The Gesell developmental scale was used to evaluate the mental development of children. Results All the 42 children with PKU were treated, and 73.8% of the children developed normal intelligence. Thirty-three children with PKU, who started treatment within 90 days after birth, had no mental retardation. All 31 children with complete parental treatment had normal intelligence. Completely cooperate with the treatment group, not with the treatment group, children with mental development difference was statistically significant (P <0.01). There was a negative correlation between the level of control of phenylalanine (phe) and prognosis in the course of treatment. Conclusion Neonatal disease screening is an effective method for early detection of PKU in children. The onset time of treatment and the degree of cooperation with parents directly affect the therapeutic effect in children. If the child can be treated within one month after birth, while parents give cooperation, strict control of blood phe concentration is the key factor to change the outcome of the disease, can prevent the occurrence of mental retardation.