Background: Despite known association of internet addiction with a reduced brain volume and abnormal connectivity, the impact of excessive smartphone use remains unclear. Methods: PubMed, Embase, ClinicalTrial.gov, and Web of Science databases were systematically searched from inception to July 2022 using appropriate keywords for observational studies comparing differences in brain volumes and activations between excessive smartphone users and individuals with regular use by magnetic resonance imaging. Results: Of the 11 eligible studies retrieved from 6993 articles initially screened, seven and six evaluated brain volumes and activations, respectively. The former enrolled 421 participants (165 excessive smartphone users vs. 256 controls), while the latter recruited 276 subjects with 139 excessive smartphone users. The results demonstrated a smaller brain volume in excessive smartphone users compared to the controls (g = −0.55, p < 0.001), especially in subcortical regions (p < 0.001). Besides, the impact was more pronounced in adolescents than in adults (p < 0.001). Regression analysis revealed a significant positive association between impulsivity and volume reduction. Regarding altered activations, the convergences of foci in the declive of the posterior lobe of cerebellum, the lingual gyrus, and the middle frontal gyrus were noted. Conclusions: Our findings demonstrated a potential association of excessive smartphone use with a reduced brain volume and altered activations.

Advances in disease-related gene discovery have led to tremendous innovations in the field of epilepsy genetics. Identification of genetic mutations that cause epileptic encephalopathies has opened new avenues for the development of targeted therapies. Clinical testing using extensive gene panels, exomes, and genomes is currently accessible and has resulted in higher rates of diagnosis and better comprehension of the disease mechanisms underlying the condition. Children with developmental disabilities have a higher risk of developing epilepsy. As our understanding of the mechanisms underlying encephalopathies and epilepsies improves, there may be greater potential to develop innovative therapies tailored to an individual’s genotype. This article provides an overview of the significant progress in epilepsy genomics in recent years, with a focus on developmental and epileptic encephalopathies in children. The aim of this review is to enhance comprehension of the clinical utilization of genetic testing in this particular patient population. The development of effective and precise therapeutic strategies for epileptic encephalopathies may be facilitated by a comprehensive understanding of their molecular pathogenesis.

Paroxysmal kinesigenic dyskinesia (PKD), a rare paroxysmal movement disorder often misdiagnosed as epilepsy, is characterized by recurrent, brief dyskinesia attacks triggered by sudden voluntary movement. Pathophysiological mechanism of PKD remains not well understood. Ion channelopathy has been suggested, since the disease responds well to ion channel blockers. Mutations in proline-rich transmembrane protein 2 (PRRT2) were recently identified in patients with familial PKD. To extend these genetic reports, we studied a family with clinical manifestations of familial PKD responding well to low dose carbamazepine. Therapeutic dose ranged from 1.5 to 2.0 mg/ kg/day, below that in seizure control. One insertion mutation c.649_650insC (p.P217fsX7) was identified in three patients of the family. This study avers PRRT2’s high sensitivity for PKD phenotype. Identification of genes underlying pathogenesis will enhance diagnosis and treatment. Function of PRRT2 and its role in PKD warrant further investigation.

Objective: Attention-Deficit/Hyperactivity Disorder (ADHD) is a common neurodevelopmental disorder in children, characterized by inattention, hyperactivity, and impulsive behavior. In recent years, studies have shown that patients with ADHD often experience sleep problems, raising clinical interest in the potential role of polysomnography (PSG) in the diagnosis and management of ADHD. This study examines polysomnographic findings in children with ADHD who present with diverse sleep complaints. Methods: A cohort of children aged younger than 18 years, diagnosed with ADHD based on DSM-5 criteria, underwent overnight polysomnography. The study assessed various sleep parameters, including sleep latency, sleep efficiency, total sleep time, and the presence of sleep-disordered breathing. Results: A retrospective analysis was conducted on 36 children (29 boys and 7 girls) aged 6 to 14 years, diagnosed with ADHD, who underwent polysomnography between 2021 and 2024. Polysomnographic findings revealed that 77.78% of the children demonstrated significant snoring. Furthermore, 50.0% were diagnosed with obstructive sleep apnea syndrome (OSAS). In addition, eight children exhibited parasomnias. Among them, six had bruxism, three were diagnosed with periodic limb movement disorder (PLMD), and two experienced sleep talking. Other notable sleep-related conditions included two cases of narcolepsy, one case of prolonged sleep onset latency, and one case of central apnea syndrome. Total sleep time (TST) was significantly longer in females compared to males (400.71 ± 32.68 min vs. 361.24 ± 41.20 min, p = 0.0215), whereas rapid eye movement (REM) latency was longer in males compared to females (118.62 ± 55.60 min vs. 78.57 ± 27.82 min, p = 0.0194). These findings highlight the high prevalence of sleep-disordered breathing (SDB) in children with ADHD who present with sleep disturbances. Furthermore, sleep quality, as indicated by longer TST and shorter REM latency, appears to be better in females with ADHD. Conclusions: The findings of this study underscore the critical role of polysomnography (PSG) in the assessment of children with ADHD. PSG provides an objective evaluation of sleep abnormalities commonly associated with ADHD, which may influence symptom manifestation and treatment outcomes. Notably, the results suggest that females with ADHD exhibit better sleep quality, as indicated by longer total sleep time (TST) and shorter rapid eye movement (REM) latency compared to males. We recommend incorporating polysomnography (PSG) into the comprehensive assessment of children with ADHD who present with significant sleep disturbances. Further research is warranted to investigate the impact of targeted interventions for sleep abnormalities on ADHD symptoms, prognosis, and potential sex-specific differences.