Impact of nusinersen on the health-related quality of life and caregiver burden of patients with spinal muscular atrophy with symptom onset after age 6 months.

Introduction/aims: Novel disease-modifying approaches for spinal muscular atrophy (SMA) have highlighted the patient's perspective on functional changes over time. In this study, we evaluated the impact of nusinersen on the health-related quality of life (HRQoL) of patients with later-onset SMA and the caregiver burden.

Methods: We assessed the changes in HRQoL using the Pediatric Quality of Life Inventory 4.

Evaluation of the neurofilament light chain as a biomarker in children with spinal muscular atrophy treated with nusinersen.

Background: This study aimed to evaluate the neurofilament light chain (NfL) as a biomarker for treatment responses in children with a broad spectrum of spinal muscular atrophy (SMA) under nusinersen treatment.

Method: We measured NfL levels in serum (sNfL) and cerebrospinal fluid (cNfL) in nusinersen-treated patients with SMA and children without neurologic disorders. Correlations between cNfL and sNfL levels and motor function scores were analyzed.

Clinical Usefulness of Simultaneous Electroencephalography and Functional Magnetic Resonance Imaging in Children With Focal Epilepsy.

Background And Purpose: The current study analyzed the interictal epileptiform discharge (IED)-related hemodynamic response and aimed to determine the clinical usefulness of simultaneous electroencephalography and functional magnetic resonance imaging (EEG-fMRI) in defining the epileptogenic zone (EZ) in children with focal epilepsy.

Methods: Patients with focal epilepsy showing IEDs on conventional EEG were evaluated using EEG-fMRI. Statistical analyses were performed using the times of spike as events modeled with multiple hemodynamic response functions.

Association Between Antipsychotic Treatment and Neurological Adverse Events in Pediatric Patients: A Population-Based Cohort Study in Korea.

Potential adverse effects might be caused by increasing the number of antipsychotic prescriptions. However, the empirical evidence regarding pediatric psychiatric patients is insufficient. Therefore, we explored the antipsychotic-induced adverse effects focusing on the neurological system.

Clinical Experience of Nusinersen in a Broad Spectrum of Spinal Muscular Atrophy: A Retrospective Study.

Background: Nusinersen has recently been approved and more widely used as first-line treatment of spinal muscular atrophy (SMA). This study aimed to evaluate the real-world experience of nusinersen use for patients with a broad spectrum of SMA.

Methods: We reviewed consecutive patients with SMA treated with nusinersen from April 2018 to April 2020.

Polymyoclonus aggravated by neck flexion as the isolated presenting symptom of Hirayama disease: case report.

Background: We report a rare case of an 18-year-old male with unilateral hand tremor who was finally diagnosed with Hirayama disease (HD).

Case Presentation: An 18-year-old male presented with unilateral polymyoclonus that aggravated with neck flexion. The patient did not complain of muscle weakness or muscle atrophy.

Factors associated with stigma and depressive symptoms in family members of patients with epilepsy.

Purpose: Literature regarding family stigma related to epilepsy is scarce. This study investigated the prevalence of family stigma and depressive symptoms and the associated factors among the family members of patients with epilepsy.

Methods: In a cross-sectional study, Stigma Scale-Revised score ≥ 4 and Patient Health Questionnaire-9 score ≥ 10 were considered indicative of moderate-to-severe stigma and depressive symptoms, respectively.

Real-Life Effectiveness and Tolerability of Perampanel in Pediatric Patients Aged 4 Years or Older with Epilepsy: A Korean National Multicenter Study.

Background And Purpose: The US Food and Drug Administration approval for perampanel has only recently been expanded to patients as young as 4 years, and so there have been few real-life studies of the effects of perampanel in pediatric patients. The aim of this study was to determine the long-term efficacy, factors affecting treatment response, and tolerability of perampanel as an add-on therapy in pediatric patients aged 4 years or older with epilepsy.

Methods: This multicenter retrospective observational study collected data from pediatric epilepsy centers of four Korean national universities.

Does the new Korean term for epilepsy reduce the stigma for Korean adults with epilepsy?

Purpose: The purpose of this study was to evaluate differences in stigma, disclosure management of epilepsy, and knowledge about epilepsy between patients with epilepsy who recognized and did not recognize the new Korean term for epilepsy.

Methods: This was a cross-sectional, multicenter study. The Stigma Scale-Revised, the Disclosure Management Scale, the Patient Health Questionnaire-9, and a questionnaire assessing knowledge about epilepsy were used.

Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review.

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant disease caused by the deposition of amyloid fibrils composed of TTR proteins. Symptoms of this disease include progressive sensorimotor neuropathy, cardiomyopathy, and involvement of other organs. We described a pediatric case of extremely early onset TTR-FAP with a Leu55Pro mutation.

Central nervous system vasculitis from Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative disorder in children: A case report.

Background: Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative disorders (EBV-T/NK-LPD) is a group of rare disorders resulting from EBV-infected T/NK-cells. It manifests as a broad spectrum of clinical symptoms according to immunologic status and viral load of an infected patient. Here, we report a boy who developed central nervous system (CNS) vasculitis and myelopathy as possible neurologic manifestations of EBV-T/NK-LPD.

Diagnostic usefulness of arterial spin labeling in MR negative children with new onset seizures.

Purpose: Arterial spine labeling (ASL) magnetic resonance imaging (MRI) is the non-invasive measurement of cerebral blood flow that can localize the seizure focus in patients with epilepsy. The aim of this study was to identify its utility for localizing the seizure focus in children with no structural lesion on MRI.

Methods: Forty-three consecutive children who underwent electroencephalography (EEG) and structural MRI, along with ASL for evaluation of newly developed seizures, were included.

Efficacy and tolerability of adjunctive perampanel treatment in children under 12 years of age with refractory epilepsy.

Purpose: There is limited data on the use of perampanel in children under 12 years of age. We evaluated the efficacy and tolerability of adjunctive perampanel treatment in children under 12 years of age with refractory epilepsy.

Methods: This retrospective observational study was performed in Kyungpook National University Hospital from July 2016 to March 2018.

The Clinical Spectrum of Benign Epilepsy with Centro-Temporal Spikes: a Challenge in Categorization and Predictability.

Benign epilepsy with centro-temporal spikes (BECTS) is the most common type of focal epilepsy in children; it is age-dependent and presumably genetic. Traditionally, children with BECTS have a very good prognosis, even without medical treatment, and are thought to show no neurological symptoms or cognitive deficits. However, many previous studies have shown that BECTS can present with various clinical and electroencephalographic characteristics that are commonly associated with neuropsychological deficits, including linguistic, cognitive, and behavioral impairment.

Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia.

Background: Acute necrotizing encephalopathy (ANE) is a rare but rapidly progressing encephalopathy following a febrile illness, commonly a viral infection. It is characterized by the features of acute encephalopathy such as seizure, alteration of consciousness, and symmetric involvement of the bilateral thalamus on neuroimaging tests. Although most ANE cases have occurred sporadically, familial or recurrent ANE has been reported in Caucasian patients, with genetic susceptibility to ANE noted in some patients due to a RANBP2 mutation.

Clinical importance of F-waves as a prognostic factor in Guillain-Barré syndrome in children.

Purpose: A limited number of studies have examined the link between F-wave abnormalities and clinical presentation in pediatric Guillain-Barré syndrome (GBS). Therefore, this study examined the importance of F-wave abnormalities as a prognostic factor in pediatric GBS patients.

Methods: The records and electrodiagnostic studies (EDS) of 70 GBS patients were retrospectively evaluated, and divided into 2 groups according to the results of EDS.

Self-concept and gender effects in Korean adolescents with epilepsy.

Purpose: We aimed to determine whether adolescents with epilepsy (AWE) have a compromised self-concept, whether a lower self-concept is related to mental health, and whether there are sex differences in self-concept in AWE.

Methods: A total of 179 AWE and 259 control adolescents without epilepsy participated in this cross-sectional, multicenter study. Self-concept was measured using the Harter's Self-Perception Profile for Children.

Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes.

Early-onset epileptic encephalopathies are one of the most severe early onset epilepsies that can lead to progressive psychomotor impairment. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects, and an increasing number of novel genetic causes continue to be uncovered. A typical diagnostic approach includes documentation of anamnesis, determination of seizure semiology, electroencephalography, and neuroimaging.

Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.

Background: Rare inherited metabolic diseases with neurological and gastrointestinal manifestations can be misdiagnosed as other diseases or remain as disorders with indeterminate etiologies. This study aims to provide evidence to recommend the utility of whole exome sequencing in clinical diagnosis of a rare inherited metabolic disease.

Methods And Results: A 4-month-old female baby visited an outpatient clinic due to poor weight gain, repeated seizure-like episodes, developmental delay, and unexplained hepatomegaly with abnormal liver function test results.

Therapeutic effects of exon skipping and losartan on skeletal muscle of mdx mice.

Various attempts have been made to find treatments for Duchenne muscular dystrophy (DMD) patients. Exon skipping is one of the promising technologies for DMD treatment by restoring dystropin protein, which is one of the muscle components. It is well known that losartan, an angiotensin II type1 receptor blocker, promotes muscle regeneration and differentiation by lowering the level of transforming growth factor-beta1 signaling.

Prevalence of restless legs syndrome and sleep problems in Korean children and adolescents with attention deficit hyperactivity disorder: a single institution study.

Purpose: Attention deficit hyperactivity disorder (ADHD) is a common disorder in school-aged children. Patients with restless legs syndrome (RLS) often present with ADHD symptoms and vice versa. This study was the first to attempt to identify the prevalence of RLS and sleep problems in children with ADHD in Korea.

Benign childhood epilepsy with centrotemporal spikes: to treat or not to treat.

Background And Purpose: The aim of this study was to evaluate the benefits and risks of oxcarbazepine (OXC) monotherapy in children with newly diagnosed, benign partial epilepsy based on clinico-electrical and neuropsychological evaluation over time.

Methods: The study was open label, prospective, multicenter based. A total of 39 children with BRE were involved in the study.