目的 探讨多种遗传代谢病新生儿筛查初筛可疑阳性的足月儿转归及远期心理行为发育的关系。方法 选择 2020-12至2021-11出生完成血氨基酸、酯酰肉碱谱筛查的足月新生儿180例,均在保定市妇幼保健院儿童保健门诊系统随访,在6月龄和12～18月龄完成Gesell神经心理评估,追踪其出生时血液氨基酸、酯酰肉碱谱检测的结果,分为初筛可疑阳性组和对照组。结果 完成Gesell评估的新生儿中初筛可疑阳性62例,阴性118例,可疑阳性病种4大类16种,合计74例次。与初筛对照组比较,初筛可疑阳性组新生儿6月龄时大运动发育商、适应性发育商方面均明显落后,差异有统计学意义(P＜0.05);两组大运动发育、适应性发育和个人社会发育评价结果比较,差异均有统计学意义(P＜0.05)。两组足月新生儿在12～18月龄时Gesell评估发育,在五大能区发育商和发育年龄方面相同,差异无统计学意义(P＞0.05),两组精细运动发育评价结果比较,差异有统计学意义(P＜0.05)。结论 新生儿40种代谢病初筛可疑阳性者,6月龄和12~18月龄心理行为发育在大运动、精细运动、适应性和个人社会发育方面落后。儿童保健管理需要关注血氨基酸、酯酰肉碱谱初筛可疑阳性儿童心理行为发育。

Objective To study the outcome and long-term psychological and behavioral development of full-term newborns with suspicious positive results in neonatal screening for various genetic metabolic diseases. Methods A total of 180 full-term neonates who completed blood amino acid and carnitine spectrum screening during from December 2020 to November 2021 were followed up in the Department of Child Health Care of Baoding Hospital of Maternal and Child Health, and 180 children who completed Gesell neuropsychological assessment at 6 months of age and from 12 months to 18 months of age. The results of blood amino acid and carnitine spectrum at birth were tracked and divided into preliminary screening suspicious positive group and control group. Results There were 62 suspicious positive cases, 118 negative cases and 16 types of suspicious positive diseases (74 cases in total) in the newborns who completed Gesell assessment. Compared with the preliminary screening control group, the gross motor development quotient and adaptive development quotient of neonates in the preliminary screening suspicious positive group were significantly backward at 6 months of age, and the difference was statistically significant (P<0.05). There were significant differences in the evaluation results of motor development, adaptive development and personal social development between the two groups, and the differences between the two groups were statistically significant (P<0.05). The Gesell assessment development of full-term newborns in the two groups at 12 to 18 months of age was the same in the five energy zone development quotient and development age, with no statistically significant difference (P>0.05). There were statistically significant differences in the fine motor development evaluation results between the two groups (P<0.05). Conclusions The mental and behavioral development of 40 kinds of metabolic diseases in infants aged 6 months and from 12 to 18 months lagged behind in the aspects of gross motor, fine motor, adaptability and personal social development. Children's health care management should pay attention to the psychological and behavioral development of children with suspicious positive blood amino acid and carnitine spectra.