Purpose We aimed to assess the characteristics of patients with concurrent tinnitus and hyperacusis, determine the best audiological criteria for predicting hyperacusis, and confirm whether objective evidence of changes in the brain exists. Materials and Methods The medical records of patients with tinnitus who visited the hospital between March 2020 and December 2021 were reviewed. Data on accompanying hyperacusis, audiological profiles, and questionnaires including the Tinnitus Handicap Inventory (THI), Beck Depression Inventory, and numerical rating scale were analyzed. Resting-state quantitative electroencephalography (qEEG) using power spectral density (PSD) and event-related spectral perturbation (ERSP) were performed to objectively quantify changes in the brain. Results A total of 194 patients were analyzed. Among them, 51 (26.3%) reported combined subjective hyperacusis with tinnitus. However, the proportions widely varied from 7.4% to 68.4% based on three audiological criteria for assessment. A higher score on the THI questionnaire was independently associated with the co-occurrence of tinnitus and hyperacusis. Fair agreement was observed between subjective hyperacusis and the audiological criterion based on a loudness discomfort level (LDL) of ≤90 dB at two or more frequencies for the diagnosis of hyperacusis. An increased beta-PSD and decreased levels of gamma-PSD, all-ERSP, and delta-ERSP were observed in patients with hyperacusis ( p <0.05). Conclusion Patients with co-occurring tinnitus and hyperacusis had more severe tinnitus distress. An LDL of ≤90 dB at two or more frequencies may be applicable to predict accompanying hyperacusis in subjects with tinnitus, and qEEG also provides more objective information.

Background: The aim of this study was to describe the application of whole exome sequencing (WES) in the accurate genetic diagnosis and personalized treatment of extremely rare neurogenetic disorders. Methods: From 2017 to 2019, children with neurodevelopmental symptoms were evaluated using WES in the pediatric neurology clinic and medical genetics center. The clinical presentation, laboratory findings including the genetic results from WES, and diagnosis-based treatment and outcomes of the four patients are discussed. Results: A total of 376 children with neurodevelopmental symptom were evaluated by WES, and four patients (1.1%) were diagnosed with treatable neurologic disorders. Patient 1 (Pt 1) showed global muscle hypotonia, dysmorphic facial features, and multiple anomalies beginning in the perinatal period. Pt 1 was diagnosed with congenital myasthenic syndrome 22 of PREPL deficiency. Pt 2 presented with hypotonia and developmental arrest and was diagnosed with autosomal recessive dopa-responsive dystonia due to TH deficiency. Pt 3, who suffered from intractable epilepsy and progressive cognitive decline, was diagnosed with epileptic encephalopathy 47 with a heterozygous FGF12 mutation. Pt 4 presented with motor delay and episodic ataxia and was diagnosed with episodic ataxia type II (heterozygous CACNA1A mutation). The patients’ major neurologic symptoms were remarkably relieved with pyridostigmine (Pt 1), levodopa (Pt 2), sodium channel blocker (Pt 3), and acetazolamide (Pt 4), and most patients regained developmental milestones in the follow-up period (0.4 to 3 years). Conclusions: The early application of WES helps in the identification of extremely rare genetic diseases, for which effective treatment modalities exist. Ultimately, WES resulted in optimal clinical outcomes of affected patients.

The early prediction of epileptic seizures is important to provide appropriate treatment because it can notify clinicians in advance. Various EEG-based machine learning techniques have been used for automatic seizure classification based on subject-specific paradigms. However, because subject-specific models tend to perform poorly on new patient data, a generalized model with a cross-patient paradigm is necessary for building a robust seizure diagnosis system. In this study, we proposed a generalized model that combines one-dimensional convolutional layers (1D CNN), gated recurrent unit (GRU) layers, and attention mechanisms to classify preictal and interictal phases. When we trained this model with ten minutes of preictal data, the average accuracy over eight patients was 82.86%, with 80% sensitivity and 85.5% precision, outperforming other state-of-the-art models. In addition, we proposed a novel application of attention mechanisms for channel selection. The personalized model using three channels with the highest attention score from the generalized model performed better than when using the smallest attention score. Based on these results, we proposed a model for generalized seizure predictors and a seizure-monitoring system with a minimized number of EEG channels.

This study evaluated the efficacy and tolerability of cannabidiol (CBD) as an add-on therapy for childhood-onset Lennox-Gastaut syndrome (LGS). Methods: This retrospective study enrolled patients who visited the Department of Pediatric Neurology at Asan Medical Center from March 2019 to February 2022 and were treated with CBD. Electronic medical records and clinically relevant factors (including the type of epilepsy and seizures, etiology, and the number of concomitantly used anti-epileptic drugs) were reviewed. The outcome was clinical response to CBD (≥50% or <50% seizure reduction at 1, 3, and 6 months after CBD introduction and the last follow-up visit). Relevant adverse events were monitored. Results: Thirty patients were included. The median age of epilepsy onset was 5.5 years (interquartile range [IQR], 3.3 to 25.3), with a median treatment duration of CBD of 6 months (IQR, 3.3 to 7.0). Sixteen patients (53.3%) showed ≥50% seizure reduction at the last follow-up. In a univariate analysis, patients whose epilepsy commenced after 3 years of age were more likely to respond to CBD (odds ratio, 10.11; 95% confidence interval, 1.05 to 97.00; P=0.04). Adverse events were observed in 11 patients (36.6%); the most common adverse event was somnolence. Conclusion: CBD could be a treatment option for children and young adults with drug-resistant LGS with a tolerable safety profile. Age at epilepsy onset (>3 years) was associated with a favorable response to CBD treatment. Further prospective studies with larger populations are needed to evaluate the tolerability and efficacy of CBD in patients with drug-resistant epilepsy of various etiologies.