Relationship between abnormal screening indexes of amino acid and acylcarnitine spectrum in full-term newborns and their psychological and behavioral development
CAO Huiqian1, WANG Yuqi1, GU Fang1, CHEN Chen1, YANG Hongli1, YAN Peilei1, LING Zhanqi1, FEI Zhihong1, XU Man1, SUN Chenghao1, YANG Yanling2, ZHANG Tao3
1. Department of Child Health Care, Baoding Hospital of Maternal and Child Health, Baoding 071000, China; 2. Department of Pediatrics, the First Hospital of Peking University, Beijing 1000340, China; 3. Department of Information,the First Hospital of Baoding, Baoding 071000, China
Abstract：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.
Dror R,Malinger G,Ben Sira L,et al. Developmental outcome of children with enlargement of the cisterna magna identified in utero [J].JCN, 2009,24 (12):1486-1492.
[15]
Hou S G,Yuan L F,Jin P P,et al. A clinical study of the effects of lead poisoning on the intelligence and neu-robehavioral abilities of children [J].Theor Biol Med Model,2013,10:13.
[16]
Li T Y,Zhang X,Wei X P,et al. Impact of antioxidant vitamins and heavy metal levels at birth on neurodevelopment of children assessed at two years of age [J].CJP,2011,49(6):439-444..
2024, Vol. 35 
