| Objective:Neonatal seizure is a manifestation of dysfunction of the central nervous system.Various etiologies can cause neonatal seizure.Early and timely etiological diagnosis can guide treatment and improve prognosis,but the etiology of 9%of neonatal seizure is still unknown.The purpose of this study is to summarize the clinical characteristics,reveal the etiology of unexplained neonatal seizure at the molecular level.Analyze the relationship between genotype and phenotype and to explore the relevant factors affecting the long-term neurological prognosis,so as to provide a reference basis for the diagnosis and treatment of unexplained neonatal seizure.Methods:Using the method of retrospective study,SPSS20.0 was used for statistical analysis.The clinical characteristics of unexplained neonatal seizure and neonatal seizure with definite etiology,electroencephalogram,imaging examination and drug treatment effect of neonatal seizure with unknown etiology were analyzed.Classification and grade data were used for descriptive statistics by frequency and rate.Two or more groups of classified data were compared by chi-square test.The correlation factors between good prognosis and poor prognosis of the unexplained neonatal seizure were compared,chi-square test was used for classified data,P<0.05 has statistical difference.The influential factors with statistical differences were further analyzed by binary Logistic multivariate regression analysis,determining the independent risk factors affecting the long-term neurological prognosis of unexplained neonatal seizure.Results:104 children were included in this study,including 42 cases(40.4%)of unexplained neonatal seizure and 62 cases(59.6%)of neonatal seizure with definite etiology.1)Clinical characteristics of seizure:of the 42 newborns with unexplained seizure,21cases(50.0%)had their first seizure within 3 days after birth and 28 cases(69%)occurred within 1 week after birth.The most common seizure type is subtle seizure(40.1%),followed by tonic seizure(31.0%),clonic seizure(16.7%).22 cases(52.4%)had more than 3 seizures per day.22 cases(52.4%)stopped seizure within 8-28 days.Compared with neonatal seizure with definite etiology,the difference of seizure onset time,seizure type,seizure frequency and seizure stop time has no statistical significance(P>0.05).2)Electroencephalogram results:The abnormal rates of aEEG and vEEG were 58.3%and60.0%respectively in 42 cases of unexplained seizure,and 52.3%and 50.0%respectively in62 cases of neonatal convulsion with definite etiology and the difference was not statistically significant(P>0.05).The difference of aEEG results among different seizure types of the unexplained has no statistical significance(P>0.05).The difference of EEG results was also not statistically significant(P>0.05).The aEEG and vEEG examinations were completed in18 children.The abnormal rate of vEEG(66.7%)was higher than that of aEEG(55.6%),and the abnormal rate of combined diagnosis was 72.2%.3)Head MRI results:42 children with unexplained seizure underwent complete head MRI.24 cases(57.1%)showed abnormal results.Two cases was considered leukoencephalopathy.2 cases was considered hereditary metabolic diseases.4)Drug treatment:42 cases were treated with phenobarbital,of which 32 cases were treated with phenobarbital alone,the effective rate was 78.6%,3 cases(7.1%)were completely ineffective with 2 combination drugs,1 case(2.4%)was completely ineffective with 3 combination drugs,and 1 case was treated with ketogenic diet.5)Genetic results:Among 42 cases with unexplained seizure,15 cases(35.7%)received gene testing,with a positive rate of 46.7%.ALPL and MUT genes are related to genetic metabolic diseases which lead to neonatal seizure.SCN2A,KCNT1,SCN8A are associated with epileptic encephalopathy.KCNQ2 is associated with Benign Familial Neonatal Seizure.SCN9A is associated with Genetic epilepsy with febrile seizures plus6)Outcome and prognostic factors:42 cases with unexplained neonatal seizure were divided into 24 cases(57.1%)with good prognosis and 18 cases(42.9%)with poor prognosis,of which 8 cases(19.0%)died,4 cases(9.5%)relapsed from seizure,8 cases(19.0%)suffered from growth retardation,6 cases(14.3%)suffered from epilepsy,9 cases(21.4%)suffered from two or more complications,3 cases suffered from relapse combined with growth retardation,3 cases suffered from epilepsy combined with death,and 3 cases suffered from epilepsy combined with growth retardation.Through single factor analysis of the prognostic factors of the two groups of children,it was found that the seizure stop time(?~2=18.069 P=0.000),VEEG(?~2=4.033 P=0.025)and phenobarbital curative effect(?~2=4.123 P=0.026)were statistically significant.Further Logistic regression analysis showed that abnormal vEEG(P=0.024 OR=7.857)and seizure stop time greater than 28 days(P=0.001,OR=7.466)were independent risk factors for poor long-term neurological prognosis of unexplained neonatal seizure.Conclusion:1)Compared with neonatal seizure with definite cause,the clinical characteristics of unexplained neonatal seizure have no obvious difference.The diagnosis cannot be determined solely by clinical features.In clinical practice,the monitoring of unexplained neonatal seizure should be strengthened within one week after birth.EEG,head MRI and gene test should be improved in time to improve the etiological diagnosis rate,and treatment should be adjusted in time.The results of gene detection can provide basis for genetic counseling.2)The seizure stop time more than 28 days and abnormal video electroencephalogram is an independent risk factor affecting the long-term neurological prognosis of neonatal unexplained seizure.If the above two situations occur in the clinical treatment process,clinicians should pay attention to them,give early anticonvulsant treatment and rehabilitation training,and follow up regularly. |
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