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Objective To investigate the co-occurrence incidence,clinical features and risk predictors of autism and intellectual disability in patients with Lennox-Gastaut syndrome (LGS).Methods Sixty-four patients with LGS were recruited in our Epilepsy Center from June 2012 to June 2018.Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS) were performed to evaluate autism,while Chinese Wechsler Intelligence Scale for Children (C-WISC) and Gesell Developmental Scale were applied to estimate intelligence.The influences of different clinical factors in autism and intellectual disability were analyzed in patients with LGS.Results Among 64 patients with LGS,only three (4.7％) were diagnosed as having autism,and their average ABC and CARS scores were 80.0 and 40.0,respectively.The average ABC and CARS scores were 40.9±26.7 and 26.0±8.9 in thepatients with onset age＜one year,which were significantly higher than those in other two groups,respectively (P＜0.05).The average ABC and CARS scores in the patients accepted antiepileptic drugs (AEDs) ≥ 3 were 27.8±22.8 and 22.2±8.7,which were significantly higher than those in the patients accepted one or two kinds ofAEDs (P＜0.05).In addition,the ABC and CARS scores showed significant differences in the groups with different seizure frequency and in the groups with or without symptomatic etiologies (P＜0.05).Fifty patients (78.1％) presented different levels of intellectual disability;severe intellectual disability was the leading type,which accounted for 31.3％ (20/64);12(18.8％),7(10.9％),and 11 (17.2％) patients were with mild,moderate or profound intellectual disability,respectively.As compared with patients without intellectual disability,patients with intellectual disability had younger onset age,higher proportion of slow background activity on EEG and higher proportion of symptomatic etiologies,with significant differences (P＜0.05).Conclusion Patients are in higher risk of autism when they have earlier epilepsy onset age,higher frequency of epilepsy seizure attack,administration of AEDs ≥3 and symptomatic etiologies;early onset age is an independent risk predictor for intellectual disability of patients with LGS.
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OBJECTIVE@#To explore the genetic basis of cerebral palsy (CP).@*METHODS@#A pair of twins with cerebral palsy and different phenotypes were subjected to whole genome sequencing, and other 8 children with CP were subjected to whole exome sequencing. Genetic variations were screened by a self-designed filtration process in order to explore the CP-related biological pathways and genes.@*RESULTS@#Three biological pathways related to CP were identified, which included axon guiding, transmission across chemical synapses and protein-protein interactions at synapses, and 25 susceptibility genes for CP were identified.@*CONCLUSION@#The molecular mechanism of CP has been explored, which may provide clues for development of new treatment for CP.