Search

Background: Although sleep quality (SQ) reportedly affects the health-related quality of life (QOL) of patients with epilepsy, little is known about the potential association between SQ and QOL, particularly in children with epilepsy (CWE). Our study aimed to investigate the mediating effect of SQ on the QOL of CWE to obtain more information for the prevention and treatment of epilepsy in children., Methods: We collected general demographic and clinical data of 212 CWE and 79 controls (children who visited the Health Examination Department), and their guardians were instructed to answer the Children's Sleep Habits Questionnaire (CSHQ) and the optimized Quality of Life in Childhood Epilepsy Questionnaire-16 (QOLCE-16). The t-test, analysis of variance, chi-square test, and Fisher's exact test were used for between group comparisons. The Pearson correlation was used to analyze the correlation between variables. The direct, indirect, and total effects of predictors on the QOL of CWE were estimated based on an adjusted mediation model., Results: CWE had significantly smaller long-term urban residence rates, less educated guardians, higher total CSHQ score, higher incidence of poor SQ, higher bedtime resistance, more sleep anxiety, worse sleep-disordered breathing, increased parasomnia, more daytime sleepiness, more frequent night waking, and greater sleep onset delay than controls (P < 0.05 for all). The univariable analysis showed significant differences in total CSHQ scores between CWE with different seizure frequency in the last month, whether or not drug-resistant epilepsy (DRE), and with different video electroencephalogram (VEEG) findings (P < 0.05 for all). Differences in QOLCE-16 scores between CWE with different guardian's employment status, age at diagnosis, number of anti-seizure medication (ASM) types, seizure frequency in the last month, DRE status, seizure type, VEEG findings, neuropsychological evaluation findings, magnetic resonance imaging (MRI) findings, and etiology were statistically significant (P < 0.05 for all). The correlation study indicated that the total CSHQ score was negatively correlated with the QOLCE-16 score (P < 0.05). The mediation analysis showed that DRE and VEEG abnormalities had a standardized direct effect on the QOL. Seizure frequency in the last month, DRE, and VEEG abnormalities had an indirect effect on the QOL through SQ, and their mediating effect values of SQ were 31.61 %, 13.45 %, and 14.35 %, respectively., Conclusion: Our findings uncovered the relationship of some clinical characteristics with SQ and QOL and characterized the nature of factors affecting the QOL of CWE. SQ could be a key factor in the prognosis of CWE experiencing epileptic seizures, and more attention should be paid on the management of SQ in interventions for epilepsy., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Purpose: This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature of the reported cases. Methods: This patient was registered at the Children's Hospital of Chongqing Medical University. The patient's symptoms and treatments were recorded in detail, and the patient was monitored for six years. We employed a combination of the following search terms and Boolean operators in our search strategy: Kohlschütter-Tönz syndrome, KTS, and ROGDI. These terms were carefully selected to capture a broad range of relevant publications in PubMed, Web of Science, WHO Global Health Library, and China National Knowledge Infrastructure, including synonyms, variations, and specific terms related to KTS. The pathogenicity of the variants was predicted using SpliceAI and MutationTaster, and the structures of the ROGDI mutations were constructed using I-TASSER. Results: This is the first case report of KTS in China. Our patient presented with epilepsy, global developmental delay, and amelogenesis imperfecta. A trio-WES revealed homozygous mutations in ROGDI (c.46-37_46-30del). The brain magnetic resonance imaging (MRI) and video electroencephalogram (VEEG) were normal. The efficacy of perampanel (PMP) in treating seizures and intellectual disability was apparent. Furthermore, 43 cases of ROGDI-related KTS were retrieved. 100% exhibited epilepsy, global developmental delay, and amelogenesis imperfecta. 17.2% received a diagnosis of attention deficit hyperactivity disorder (ADHD), and 3.4% were under suspicion of autism spectrum disorder (ASD). Language disorders were observed in all patients. Emotional disorders, notably self-harm behaviors (9.1%), were also reported. Conclusion: ROGDI-related KTS is a rare neurodegenerative disorder, characterized by three classic clinical manifestations: epilepsy, global developmental delay, and amelogenesis imperfecta. Moreover, patients could present comorbidities, including ADHD, ASD, emotional disorders, and language disorders. PMP may be a potential drug with relatively good efficacy, but long-term clinical trials are still needed. [ABSTRACT FROM AUTHOR]

We investigated the existence and potential pathogenicity of a SLC9A6 splicing variant in a Chinese boy with Christianson Syndrome (CS), which was reported for the first time in China. Trio whole-exome sequencing (WES) was performed in the proband and his parents. Multiple computer prediction tools were used to evaluate the pathogenicity of the variant, and reverse transcription-polymerase chain reaction (RT-PCR) analysis and cDNA sequencing were performed to verify the RNA splicing results. The patient presented with characteristic features of CS: global developmental delay, seizures, absent speech, truncal ataxia, microcephaly, ophthalmoplegia, smiling face and hyperkinesis with electrical status epilepticus during sleep (ESES) detected in an electroencephalogram (EEG). A SLC9A6 splicing variant was identified by WES and complete skipping of exon 10 was confirmed by RT-PCR. This resulted in altered gene function and was predicted to be pathogenic. ESES observed early in the disease course is considered to be a significant feature of CS with the SLC9A6 variant. Combined genetic analysis at both the DNA and RNA levels is necessary to confirm the pathogenicity of this variant and its role in the clinical diagnosis of CS. [ABSTRACT FROM AUTHOR]