Abstract
There is still no comprehensive description of the general population regarding clinical features and genetic etiology for co-occurring epilepsy and autism spectrum disorder (ASD) in Chinese children. This study was a retrospective study of children diagnosed with epilepsy and ASD from January 1st, 2015, to May 1st, 2018, at the Children's Hospital of Fudan University. A total of 117 patients met the inclusion criteria, and 103 subjects were eligible. Among them, 88 underwent genetic testing, and 47 children (53.4%) were identified as having pathogenic or likely pathogenic variants: 39 had single gene mutations (83.0%, 39/47), and eight had copy number variants (17.0%, 8/47), with SCN1A (14.9%, 7/47) and MECP2 (10.6%, 5/47) gene mutations being the most common. Mutations in other genes encoding voltage-gated ion channels including SCN2A, CACNA1A, CACNA1H, CACNA1D, and KCNQ2 were also common, but the number of individual cases for each gene was small. Epilepsy syndrome and epilepsy-associated syndrome were more common (P = 0.014), and higher rates of poly-therapy (P = 0.01) were used in the positive genetic test group than in the negative group. There were no statistically significant differences in drug-refractory epilepsy, ASD severity, or intellectual disability between the positive genetic test group and the negative genetic group. These data strongly indicate the need for ASD screening in children with epilepsy with voltage-gated ion channel gene variants for better diagnosis and early intervention.
Highlights
Epilepsy, especially drug-refractory epilepsy, with autism spectrum disorder (ASD) is a chronic neurologic disorder and places a substantial burden on children, families and society [1]
Fourteen patients were excluded as follows: four patients did not complete the required information, either due to unsuccessful attempts at the phone interview and/or failure to make contact, three ASD patients had no seizures even though their EEGs were abnormal, six patient had ASD-like symptoms, but the screening scale was negative, and one patient was diagnosed with secondary epilepsy after an upper gastrointestinal hemorrhage
Sixty-nine patients suffered epilepsy prior to ASD diagnosis, 28 patients were diagnosed with ASD before epilepsy, and six patients had an unclear relationship between epilepsy and ASD
Summary
Especially drug-refractory epilepsy, with ASD is a chronic neurologic disorder and places a substantial burden on children, families and society [1]. Previous research reported that the comorbidity rate varied widely, even in large samples including population-based studies, ranging from 2.4 to 63% [2, 3]. In different epilepsy syndromes, such as in tuberous sclerosis complex (TSC), the incidence of ASD is 17–63% [4]. In Dravet syndrome (DS), the incidence of ASD is 24–61% [5, 6], and in infantile spasms, it is 35% [7]. Most published studies have primarily focused on clinical characteristics and outcomes of epilepsy with ASD [8].
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