Publications by authors named "Sun-Ah Choi"

Objective: This study aimed to assess the long-term outcome and prognostic factors of vagus nerve stimulation (VNS) for drug-resistant epilepsy (DRE) using real-world data.

Method: We included 189 DRE patients who underwent VNS implantation between 2005 and 2018 at nine national hospitals in Korea. Seizure-frequency data obtained quarterly one year before and after surgery and annually up to four years after surgery were collected from medical records.

View Article and Find Full Text PDF

Background: Impaired visuomotor integration (VMI) is commonly observed in children with developmental delay (DD). This pilot study aimed to evaluate the effects of tablet computer-based cognitive training on the VMI in children with DD.

Methods: This study included children aged 4 to under 18 years diagnosed with DD.

View Article and Find Full Text PDF
Article Synopsis
  • Pediatric multiple sclerosis (MS) and neuromyelitis optica (NMO) are rare in South Korea, with low incidence and prevalence rates among those under 20 years old from 2016 to 2020.
  • The study revealed significant disparities in healthcare access, with most patients receiving care in urban tertiary hospitals, especially in Seoul, compared to rural areas.
  • The economic burden of managing these rare diseases is considerable, highlighting the need for tailored healthcare policies to improve access and reduce regional disparities in care.
View Article and Find Full Text PDF

Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4-1.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmental delay, maturity-onset diabetes of the young type 5 (MODY5), and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

View Article and Find Full Text PDF

Dementia is a clinical syndrome characterized by progressive impairment of cognitive and functional abilities. As currently applied treatments for dementia can only delay the progression of dementia and cannot fundamentally cure it, much attention is being paid to reducing its incidence by preventing the associated risk factors. Cardiovascular and metabolic diseases are well-known risk factors for dementia, and many studies have attempted to prevent dementia by treating these risk factors.

View Article and Find Full Text PDF

Background: Acute disseminated encephalomyelitis (ADEM) is an immune-mediated demyelinating disorder of the central nervous system that is usually triggered by infections. We aimed to determine the temporal trends in the incidence of ADEM before and during the pandemic and their correlation with viral epidemiology.

Methods: We conducted a nationwide, population-based, retrospective, ADEM cohort study by using the Health Insurance Review and Assessment Service database.

View Article and Find Full Text PDF

Objectives: Guillain-Barré syndrome (GBS) is an immune-mediated polyradiculoneuropathy, often triggered by infection. We aimed to investigate how the incidence of GBS changed in the early stages of the coronavirus 2019 (COVID-19) pandemic when nationwide infections declined due to non-pharmaceutical interventions.

Methods: We conducted a nationwide population-based retrospective GBS cohort study using data from the Health Insurance Review and Assessment Service of Korea.

View Article and Find Full Text PDF
Article Synopsis
  • The Korean Undiagnosed Diseases Program (KUDP) ran for three years to help patients who didn't have a diagnosis and to create systems for better research in the future.* -
  • A total of 458 patients were studied, and doctors were able to find diagnoses for over half of them, using advanced genetic testing methods.* -
  • The program also built a special research lab and created a computer system to help manage and share information about these patients and their conditions.*
View Article and Find Full Text PDF

Background And Objectives: The outcome of status epilepticus (SE) largely varies depending on clinical characteristics. Risk stratification is necessary for tailoring the aggressiveness of treatment and predicting outcomes of individual patients with SE. In this study, we assessed differences in mortality, neurologic disability, and prognostic factors associated with SE across sociodemographic and clinical characteristics.

View Article and Find Full Text PDF

Background: PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 deletion syndrome and PURA syndrome. PURA-NDDs are characterized by neonatal hypotonia, moderate to severe global developmental delay/intellectual disability (GDD/ID), facial dysmorphism, epileptic seizures, nonepileptic movement disorders, and ophthalmological problems.

View Article and Find Full Text PDF

Recent advances in mobile health have enabled health data collection, which includes seizure and medication tracking and epilepsy self-management. We developed a mobile epilepsy management application, integrated with a hospital electronic health record (EHR). In this prospective clinical trial, we assessed whether the mobile application provides quality healthcare data compared to conventional clinic visits, and enhances epilepsy self-management for patients with epilepsy.

View Article and Find Full Text PDF

Objective: Autosomal dominant (AD) guanosine triphosphate cyclohydrolase 1 (GCH1) deficiency is the most common cause of dopa-responsive dystonia (DRD). Patients with GCH1 deficiency are likely to experience diagnostic delay, but its consequences have not been described thoroughly in patients with early-onset disease. We describe the diagnostic delay and residual motor signs (RMS) observed in patients with early-onset (before 15 years of age) disease.

View Article and Find Full Text PDF
Article Synopsis
  • * A 5-minute preictal period and data from just four electrodes resulted in the best classification performance, significantly outperforming longer preictal periods and using all available electrodes.
  • * While individual patient responses varied, overall improvements in prediction accuracy were minimal when adjusting the number of electrodes and sampling frequency, demonstrating that efficient monitoring can be achieved with fewer resources.
View Article and Find Full Text PDF

Background And Purpose: The myelin oligodendrocyte glycoprotein (MOG) antibody is detected at a high rate in childhood acquired demyelinating syndrome (ADS). This study aimed to determine the diagnostic value of the MOG antibody in ADS and the spectrum of MOG-antibody-positive demyelinating diseases in children.

Methods: This study included 128 patients diagnosed with ADS (=94) or unexplained encephalitis (=34).

View Article and Find Full Text PDF
Article Synopsis
  • The pilot study aimed to analyze treatment pathways for pediatric epilepsy using the common data model (CDM) based on electronic health record (EHR) data, assessing the feasibility of this approach for epilepsy research.
  • Researchers focused on patients who had been on antiseizure medication (ASM) treatment for at least two years and identified 313 different treatment pathways among 1,192 patients.
  • Results showed a significant drug resistance rate of 23.8%, with variations in resistance based on the type of epilepsy and age of onset, highlighting the complexity and individualized nature of epilepsy treatment.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Objective: Antiseizure drugs (ASDs) are known to cause a wide range of adverse drug reactions (ADRs). Recently, electronic health care data using the common data model (CDM) have been introduced and commonly adopted in pharmacovigilance research. We aimed to analyze ASD-related ADRs using CDM and to assess the feasibility of CDM analysis in monitoring ADR in a single tertiary hospital.

View Article and Find Full Text PDF

Background And Purpose: The aim of this study was to expand the understanding of the genotype-phenotype spectrum of -related disorders and to evaluate the therapeutic effect of a ketogenic diet in patients with alternating hemiplegia of childhood (AHC).

Methods: The clinical information of 13 patients with mutations was analyzed by performing retrospective chart reviews. Patients with the AHC phenotype who consented to ketogenic diet were included in the trial.

View Article and Find Full Text PDF

Objective: To reveal the changes of centrotemporal spikes that occur during the disease course of self-limited epilepsy with centrotemporal spikes (SLECTS).

Method: We retrospectively reviewed the serial EEGs of 63 patients with SLECTS from initial diagnosis to remission. There were 32 patients who did not undergo treatment and 31 patients who underwent treatment with oxcarbazepine (OXC).

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Background And Purpose: Febrile seizure (FS) is a unique type of seizure that only occurs during childhood. Genelized epilepsy with febrile seizure plus (GEFS+) is a familial epilepsy syndrome associated with FS and afebrile seizure (AFS). Both seizure types are related to fever, but whether genetic susceptibility to inflammation is implicated in them is still unclear.

View Article and Find Full Text PDF

Introduction: The identification of LMNA-related muscular dystrophy is important because it poses life-threatening cardiac complications. However, diagnosis of LMNA-related muscular dystrophy based on clinical features is challenging.

Methods: We reviewed the clinical phenotypes of 14 children with LMNA variants, focusing on the cardiac function and genotypes.

View Article and Find Full Text PDF
Article Synopsis
  • Childhood chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare condition with unclear optimal treatment strategies, especially in difficult cases.
  • In a study analyzing 14 pediatric cases over 12 months, it was found that plasmapheresis worked better than IVIG for monophasic cases, while both treatments were similarly effective for polyphasic cases.
  • For polyphasic patients unresponsive to first-line treatments, cyclosporine proved effective in achieving disease control, with some patients experiencing minimal symptoms and no relapses in the long term.
View Article and Find Full Text PDF

A PHP Error was encountered

Severity: Warning

Message: fopen(/var/lib/php/sessions/ci_sessioncdrcfq5rvfsv1qsua2cfahjcnl30vc8p): Failed to open stream: No space left on device

Filename: drivers/Session_files_driver.php

Line Number: 177

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once

A PHP Error was encountered

Severity: Warning

Message: session_start(): Failed to read session data: user (path: /var/lib/php/sessions)

Filename: Session/Session.php

Line Number: 137

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once