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目的通过对保定地区5年间经新生儿疾病筛查并确诊为苯丙酮尿症(PKU)患儿和门诊PKU患儿智力发育做调查,了解PKU患儿早期发现,早期治疗对疾病预后的影响,以引起广大家长对本病的高度重视。方法保定地区2003年8月~2007年8月间经新生儿疾病筛查并确诊为PKU患儿14例,门诊就诊的PKU患儿5例,选用Gesell智力测查法评估患儿智力发育情况。结果通过新生儿疾病筛查、确诊并早期治疗的11例PKU患儿智力达到正常水平。虽早期发现但未及时治疗的3例和门诊就诊的5例PKU患儿因治疗较晚智力水平较差。11例早期治疗的PKU患儿平均发育年龄与其平均实际年龄相比,存在显著性差异(P<0.05)。结论新生儿疾病筛查PKU及早期诊断早期治疗对疾病的预后是非常重要的。
Objective To investigate the mental development of children with PKU and outpatient PKU who were screened and diagnosed with neonatal disease in Baoding in 5 years and to understand the effect of early detection and early treatment of PKU on the prognosis of the disease, To cause the majority of parents attach great importance to the disease. Methods From August 2003 to August 2007, 14 children with PKU and 5 children with PKU were screened through neonatal disease in Baoding area. The intelligence development of children was evaluated by Gesell intelligence test. Results Eleven children with PKU diagnosed and treated early by neonatal screening had normal intelligence. Although early detection but not promptly treated in 3 cases and outpatient visits in 5 cases of PKU patients with later mental retardation due to poor. The mean age at development of 11 early-treated PKU patients was significantly different from their average actual age (P <0.05). Conclusion Neonatal disease screening PKU and early diagnosis and early treatment of the prognosis of the disease is very important.