Clinical Characteristics Of Early-onset Infantile Epileptic Encephalopathy TypeⅡ(CDD) And Intervention Treatment With Traditional Chinese Medicine

ObjectiveThrough the collection of 16 patients who were diagnosed as early-onset infantile epileptic encephalopathy type II,also known as CDKL5 deficiency disorder(CDKL5deficiency disorder,CDD)from 2016 to 2021,the children’s encephalopathy specialist clinic of the First Affiliated Hospital of Tianjin University of Traditional Chinese Medicine The clinical data of children with CDD were sorted out and summarized,and the clinical characteristics of children with CDD and the effect of traditional Chinese medicine intervention were summarized and analyzed.MethodsThe 16 cases of children included in this study were all from the specialist outpatient department of child encephalopathy.Their clinical data(general data,dynamic/video EEG,brain MRI,gene detection results,attack form,family history,past history,maternal pregnancy history,treatment and development evaluation,etc.)were collected,and the patients who continued treatment were followed up until March 2021.Collect 16 cases of CDD children’s tongue,fur,pulse(fingerprints),pharynx,apprehension,sleep soundly,and feces,and through the hospital system to search the children’s past prescriptions and medicines used in our place,and compare the course and severity of the children’s disease before and after.analysis.Results1.general data analysisThe sex ratio of 16 children with CDD included in this study was 1:7.There were more women than men.The average age of onset was March 12 days,and the median age was 2months.The proportion of full-term children with CDD was 93.75%(15/16).Most of the births were in good health,accounting for 81.25%(13/16).In the study,62.50%(10/16)had obvious triggers.Sixteen children with CDD have grown to have at least one type,and up to three types of attacks.The proportion of epileptic seizures is the highest,45.16%(14/31)> the proportion of tonic-clonic/tonic/clonic seizures is 29.03%(9/31)>the proportion of absent seizures is 19.35%(6/30)> Focal origin 6.45%(2/31);seizure type and average age performance: focal origin seizure 2 months <tonic-clonic/tonic/clonic seizures 3 months 17 days <epileptic seizures 4 months 3 Days <Absence seizure 1 year,4 months and 5 days;2cases of children with epileptic seizures changed to other seizures after seizures,and then again to epileptic seizures.Abnormal head MR or CT examination accounted for 60.00%(9/15)cases,EEG manifestations were abnormal,EEG manifestations: 8 cases(50.00%)with multifocal discharge> 4 cases with high arrhythmia(25.00%)= 4 cases of background rhythm slowdown(25.00%).Genetic testing found 14 cases of unreported new mutation sites.Among them,2 cases of unrelated CDD children can be seen at the same site(c.-162-2A>G)Mutation occurs.In this study,the proportion of frameshift mutations was the highest,which was 31.25%(5/16).All 16 children with CDD showed mental retardation(100.00%),Excluded 6 children who did not reach the age of language development,and the remaining10 cases had abnormal language development,10 had abnormal eye contact(62.50%,10/16),and 4 had strabismus.(25.00%,4/16);8 cases(50.00%,8/16)with small courage and easily frightened;6 cases with abnormal mood(37.50%,6/16),and 15 cases with abnormal motor development(93.75%,15/16),including 1 case with high muscle tone.2.TreatmentIn the study,16 children with CDD were treated with 2 or 2 AEDs accounting for 93.75%(15/16).The effective AEDs obtained by asking the parents of the children about the effects of taking AEDs were as follows: Perampanel >VGB>VPA>OXC/LT G>TPM>PB>LEV.There were 6 cases on each of the ketogenic diet and ACTH shock,and 33.30%(2/6)were effective on the ketogenic diet.The effective ACTH impact accounted for 16.70%(1/6).The shortest time for children with CDD to take the decoction in our place is 14 days(31.58%,6/19),the longest is 3 months(5.26%,1/19),and the highest proportion is 1 month(52.63%,10/19);Conclusion(1)There are more female children with CDKL5 deficiency than male children.The main clinical manifestations include: epileptic seizures,hypotonia,and retardation of psychomotor development.(2)CDKL5 syndrome belongs to the five soft,five late,and epileptic diseases of traditional Chinese medicine.The etiology is related to congenital factors.The pathological nature is a mixture of cold and heat,and a mixture of deficiency and excess.The location of the disease is closely related to the heart,liver,spleen and kidney.(3)Children with CDD have strong resistance to western medicine and traditional Chinese medicine.Therefore,Chinese medicine needs to be dynamically differentiated and changed frequently.(4)Traditional Chinese medicine can not only reduce the frequency of epileptic seizures in children with CDD,but also improve the quality of life of children.