Study On The Correlation Between Simple Pedigree Genetics Of Tourette's Syndrome And Traditional Chinese Medicine Treatment In Children

Tourette disorder(TD),has an incidence of 0.3% to 0.9%,with a male-to-female ratio of 2-4:1.It is often accompanied by attention deficit hyperactivity disorder,obsessive-compulsive disorder and self-injury,which seriously affects children's physical and mental health and brings heavy burden to family and society.Because the pathogenesis is not clear and the treatment method is single,some children can not obtain satisfactory curative effect by traditional Chinese medicine and Western medicine,which is a clinical refractory psychiatric disease in children.In this study,exome sequencing technology was used to analyze the new sequence variations(de novo variants)and pedigrees in simple families.By summarizing and analyzing the types of new sequence variations,the significance of new sequence variations in the pathogenesis of TD was discussed.At the same time,genetic mutation data and phenotypic data were combined for the first time to explore the impact of new sequence variations on perinatal risk factors and Chinese medicine treatment.It lays a foundation for further research on the pathogenesis of TD and precise treatment of TCM.In this study,we used Whole-exome sequencing(WES)to study the genetics of 15 simple families with TD(only children in the family have TD,and no parents have history of TDrelated diseases),and to explore the role of genetic factors in the pathogenesis of TD.In this study,we found that new harmful mutations(de novo damaging genes)were significantly enriched in simple families with TD,and were influenced by perinatal risk factors.By comparing the Yale Global Tourette Severity Scale(YGTSS)scores among children with different mutation types,it was found that the Yale score of children with harmful mutation(x=27.0)was higher than that of children without harmful mutation(x=19.8).There was significant difference between the two groups,so it was considered that harmful mutation could increase the severity of TD.The results showed that the effective rate of traditional Chinese medicine treatment in children with harmful variation(83.3%)was lower than that in children without harmful variation(88.9%)and the recurrence rate of prognosis in children with harmful variation was higher than that in children without harmful variation(88.9%).This research is the first study on the whole exome sequencing of simple pediatric TD families in China.By analyzing the whole exon sequencing data of pediatric members,new sequence variations are defined.This topic combines mutation information with phenotypic data,innovatively analyses the interaction between new sequence variation and phenotypic data,and explores the role of traditional Chinese medicine treatment in gene mutation research in the future by analyzing the effect of new sequence variation on the therapeutic effect of traditional Chinese medicine.To sum up,the results of this study show that the new sequence variation has pathogenic risk for TD,and can affect the severity,therapeutic effect and prognosis of TD.It lays a foundation for the follow-up large sample study,and provides a theoretical basis for the further study of the pathogenesis of TD and the precise treatment of traditional Chinese medicine.