Objective: Epilepsy is a chronic disease that places a heavy burden on caregivers. Previous studies have shown that caregivers of epilepsy patients often experience anxiety and depression; however, few comprehensive studies have assessed their sleep quality and family function. Based on the current understanding of the anxiety and depression state of caregivers in children with epilepsy, we further explored the caregivers' sleep and family function and evaluated the predictors of the depression state of caregivers.Methods: In this cross-sectional online anonymous survey, we sent an online questionnaire to the caregivers of children with epilepsy who visited our hospital. The QR code of the questionnaire was scanned at the follow-up course to conduct an online survey. The questionnaire contained questions about sociodemographic and clinical information, the Self-rating Anxiety Scale, Self-rating Depression Scale, Pittsburgh Sleep Quality Index, and the Family Assessment Device.Results: A total of 308 caregivers of children with epilepsy aged 0–12 years were included in this study. The mean age of children with epilepsy was 4.8 ± 3.18 years, and the average illness duration was 34.2 ± 29.18 months. Further, 47.1% of the children took three or more anti-seizure medications, and 43.2% were on ketogenic diet therapy. We found that in 77.9% of the cases, the subjects were the mothers, in 89% there was more than one co-caregiver, and in 51.9%, financial help was required. Further, 63.6% of the caregivers thought they could not get enough access to disease knowledge education, and 83.7% perceived epilepsy was a terrible disease. Our results also showed that 65.6% of the caregivers were in depression status, 41.9% were in anxiety status, and 49.0% had poor sleep quality. The proportion of unhealthy family functioning in each subscale was 45.1–96.1%, and the unhealthy behavior control function accounted for 96.1%. Binary logistic regression analysis of the data showed that without co-caregivers [odds ratio (OR), 5.193], free of anxiety status (OR, 0.063), good sleep quality (OR, 0.446), healthy family role dimension (OR, 0.344), and healthy family general functional dimension (OR, 0.259) were predictors of depression status in caregivers of children with epilepsy.Conclusion: Anxiety and depression status are common in caregivers of children with epilepsy, with depression status being more prominent. Moreover, a considerable proportion of caregivers had poor sleep quality and unhealthy family function. The caregivers' anxiety status, sleep quality, family role dimension, family general function dimension, and the number of co-caregivers were predictors of depression status in caregivers. In clinical practice, caregivers' anxiety and depression status, poor sleep quality, and unhealthy family functioning should be addressed along with the treatment of children with epilepsy.

Objective: We aimed to explore the associated clinical phenotype and the natural history of patients with SYNGAP1 gene variations during early childhood and to identify their genotype–phenotype correlations.Methods: This study used a cohort of 13 patients with epilepsy and developmental disorder due to SYNGAP1 mutations, namely, 7 patients from Shenzhen Children’s Hospital between September 2014 and January 2020 and 6 patients from previously published studies. Their clinical data were studied.Results: A total of 13 children with SYNGAP1 gene variants (eight boys and five girls) were identified. The age of disease onset was in infancy. Mutations were located between exons 8 and 15; most were frameshift or truncated mutations. Four mutation sites (c.924G > A, c.1532-2_1532del, c.1747_1755dup, and c.1735_1738del) had not been reported before. All patients had global developmental delay within the first year of life, and intellectual impairment became gradually apparent. Some of them developed behavioral problems. The developmental delay occurred before the onset of seizures. All seven patients in our cohort presented with epilepsy; myoclonic seizures, absence seizures, and epileptic spasms were the most common seizure types. Abnormal electroencephalograms were identified from five patients before the onset of their seizures. All patients suffered from drug-resistance seizures. However, comorbidities such as behavioral problems were less frequently observed.Conclusion: The most common age of disease onset in SYNGAP1 gene mutations is in infancy, while neurodevelopmental delay and epilepsy are the major phenotypes. They have a higher percentage of drug-resistant epilepsy and epileptic spasms than those in previous reports. We should give attention to the patients with abnormal EEGs without seizures and think about the suitable time of the anti-seizure medications for them. We have not found the genotype–phenotype correlation.Trial registration: Chinese Clinical Trial Registry, Registration number: ChiCTR2100049289 (https://www.chictr.org.cn/listbycreater.aspx).

ObjectiveTuberous sclerosis complex (TSC) is a rare disease with a high risk of epilepsy and cognitive impairment in children. Ketogenic diet (KD) therapy has been consistently reported to be beneficial to TSC patients. In this study, we aimed to investigate the efficacy and safety of KD in the treatment of drug-resistant epilepsy and cognitive impairment in children with TSC.MethodsIn this multicenter study, 53 children (33 males and 20 females) with drug-resistant epilepsy or cognitive impairment caused by TSC were retrospectively recruited from 10 hospitals from January 1, 2010, to December 31, 2020. Intention-to-treat analysis was used to evaluate seizure reduction and cognition improvement as outcomes after KD therapy.ResultsOf the 53 TSC patients included, 51 failed to be seizure-free with an average of 5.0 (range, 4–6) different anti-seizure medications (ASMs), before KD therapy. Although the other two patients achieved seizure freedom before KD, they still showed psychomotor development delay and electroencephalogram (EEG) abnormalities. At 1, 3, 6, and 12 months after the KD therapy, 51 (100%), 46 (90.2%), 35 (68.6%), and 16 patients (31.4%) remained on the diet therapy, respectively. At these time points, there were 26 (51.0%), 24 (47.1%), 22 (43.1%) and 13 patients (25.5%) having ≥50% reductions in seizure, including 11 (21.6%), 12 (23.5%), 9 (17.6%) and 3 patients (5.9%) achieving seizure freedom. In addition, of 51 patients with psychomotor retardation, 36 (36 of 51, 70.6%) showed cognitive and behavioral improvements. During the KD therapy, no serious side effects occurred in any patient. The most common side effects were gastrointestinal disturbance (20 of 53, 37.7%) and hyperlipidemia (6 of 53, 11.3%). The side effects were gradually relieved after adjustment of the ketogenic ratio and symptomatic treatment.ConclusionKD is an effective and safe treatment for TSC-related drug-resistant epilepsy and cognitive impairment in children. KD can reduce seizure frequency and may potentially improve cognition and behavior.

Background Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis accounts for the vast majority of cases of autoimmune encephalitis. Its common clinical symptoms are psychiatric symptoms, behavioral dysfunction, seizures, speech impairment, cognitive impairment, movement disorders, decreased consciousness, and autonomic instability. This report was aimed to provide evidence for anti-NMDAR encephalitis with seizure-like activity, based on the clinical presentations, brain magnetic resonance imaging (MRI), and electroencephalogram (EEG) recordings. Case presentation We report a 11-year-old girl who suffered epigastric pain after vigorous physical activity. She felt weakness of the muscles. She had syncope only once and urinary incontinence on the way to the hospital and vomited at the arrival. The entire procedure lasted approximately 15 min. The next night she had recurrent headache attacks along with irritability, like someone “tapping” to the right occipital region. She experienced numbness in the left upper limbs and shallowing of the frontal lines on the left side. Holter monitoring showed normal findings, but brain MRI, EEG recording, and cerebrospinal fluid (CSF) antibody testing showed abnormal results. The patient was finally diagnosed with anti-NMDAR encephalitis. After treatment with glucocorticoids and acyclovir, she fully recovered and was discharged from the hospital. Conclusions Although the patient presented with pain and impaired limb movements, she did not have respiratory or (and) circulatory failure, and the symptoms entirely resolved. Early accurate diagnosis and timely treatment are essential for patients with anti-NMDAR encephalitis.