1.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
2.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
3.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
4.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
5.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
6.Clinical Analysis and Red Flag Signs in Pediatric Headache According to Age
Yoon Hee JO ; Yoo Jung LEE ; Donghyun SHIN ; Soo Young LYU ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2024;32(2):122-129
Purpose:
The clinical characteristics of headaches vary by age among pediatric patients. Red flag signs are key factors in differentiating secondary headaches and should be considered in the context of the patient’s age.
Methods:
This study involved a retrospective chart review of pediatric patients presenting with headaches. Patients were categorized by age into three groups: pre-school age (under 6 years), school-age (6 to 12 years), and adolescence (over 12 years). Demographic data, headache characteristics, laboratory findings, and neuroimaging results were evaluated. Overall, 17 potential red flags were assessed.
Results:
A total of 687 patients were included, of whom 102 were of pre-school age, 314 were school-aged, and 271 were adolescents. The frequency of overweight/obesity was found to increase with age. The pre-school age group experienced a shorter period from symptom onset to presentation and a briefer duration of pain. In contrast, adolescents displayed a longer period from symptom onset, a greater frequency of headaches occurring at least three times per week, and a higher rate of headache episodes lasting over 3 days. Children under 6 years old were more commonly diagnosed with secondary headaches than older children. Across age groups, secondary headaches were suspected when systemic symptoms such as fever were present, when the headache had a sudden onset, when the patient responded poorly to medication, or when abnormal neurological signs and symptoms were observed.
Conclusion
The clinical features of pediatric patients vary by age group. Clinicians should consider red flag signs in the context of patient age and individual characteristics.
7.Developing national level high alert medication lists for acute care setting in Korea
Ji Min HAN ; Kyu-Nam HEO ; Ah Young LEE ; Sang il MIN ; Hyun Jee KIM ; Jin-Hee BAEK ; Juhyun RHO ; Sue In KIM ; Ji yeon KIM ; Haewon LEE ; Eunju CHO ; Young-Mi AH ; Ju-Yeun LEE
Korean Journal of Clinical Pharmacy 2022;32(2):116-124
Background:
High-alert medications (HAMs) are medications that bear a heightened risk of causing significant patient harm if used in error. To facilitate safe use of HAMs, identifying specific HAM lists for clinical setting is necessary. We aimed to develop the national level HAM list for acute care setting.
Methods:
We used three-step process. First, we compiled the pre-existing lists referring HAMs. Second, we analyzed medication related incidents reported from national patient safety incident report data and adverse events indicating medication errors from the Korea Adverse Event Reporting System (KAERS).We also surveyed the assistant staffs to support patient safety tasks and pharmacist in charge of medication safety in acute care hospital. From findings from analysis and survey results we created additional candidate list of HAMs. Third, we derived the final list for HAMs in acute care settings through expert panel surveys.
Results:
From pre-existing HAM list, preliminary list consisting of 42 medication class/ingredients was derived. Eight assistant staff to support patient safety tasks and 39 pharmacists in charge of medication safety responded to the survey. Additional 44 medication were listed from national patient safety incident report data, KAERS data and common medications involved in prescribing errors and dispensing errors from survey data. A list of mandatory and optional HAMs consisting of 10 and 6 medication classes, respectively, was developed by consensus of the expert group.
Conclusion
We developed national level HAM list for Korean acute care setting from pre-existing lists, analyzing medication error data, survey and expert panel consensus.
8.Bone health in pediatric patients with neurological disorders
Ara KO ; Juhyun KONG ; Furkat SAMADOV ; Akmal MUKHAMEDOV ; Young Mi KIM ; Yun-Jin LEE ; Sang Ook NAM
Annals of Pediatric Endocrinology & Metabolism 2020;25(1):15-23
Patients with neurological disorders are at high risk of developing osteoporosis, as they possess multiple risk factors leading to low bone mineral density. Such factors include inactivity, decreased exposure to sunlight, poor nutrition, and the use of medication or treatment that can cause lower bone mineral density such as antiepileptic drugs, ketogenic diet, and glucocorticoids. In this article, mechanisms involved in altered bone health in children with neurological disorders and management for patients with epilepsy, cerebral palsy, and Duchenne muscular dystrophy regarding bone health are reviewed.
9.Clinical Aspects of Premonitory Urges in Patients with Tourette's Disorder
Seok Hyun NAM ; Juhyun PARK ; Tae Won PARK
Journal of the Korean Academy of Child and Adolescent Psychiatry 2019;30(2):50-56
Most patients with Tourette's disorder experience an uncomfortable sensory phenomenon called the premonitory urge immediately before experiencing tics. It has been suggested that premonitory urges are associated with comorbidities such as obsessive compulsive disorder, anxiety disorders, and attention-deficit/hyperactivity disorder, although these associations have been inconsistent. Most patients experience tics as a result of the premonitory urges, and after the tics occur, most patients report that the premonitory urges are temporarily relieved. As a consequence, several studies have assessed the premonitory urge and its potential therapeutic utility. Based on the concept that the premonitory urge induces tics, behavioral treatments such as Exposure and Response Prevention and Habit Reversal Therapy have been developed. However, it is still unclear whether habituation, the main mechanism of these therapies, is directly related to their effectiveness. Moreover, the observed effects of pharmacological treatments on premonitory urges have been inconsistent.
Anxiety Disorders
;
Behavior Therapy
;
Comorbidity
;
Drug Therapy
;
Humans
;
Obsessive-Compulsive Disorder
;
Tics
;
Tourette Syndrome
10.Acute Combined Central and Peripheral Demyelination in Children: in Comparison with Isolated Demyelinating Disease.
Joung Hee BYUN ; Ji Yeon SONG ; Juhyun KONG ; Sang Ook NAM ; Young Mi KIM ; Gyu Min YEON ; Yun Jin LEE
Journal of the Korean Child Neurology Society 2017;25(2):106-112
PURPOSE: This study aimed to describe the clinical characteristics and outcomes of children with acute combined central and peripheral nervous system demyelination (CCPD); and compare with the children of isolated acute central or peripheral nervous system demyelination. METHODS: A retrospective chart review of 145 children with acute demyelinating disease between 2010 and 2015 was undertaken in children with younger than 18 years old. Among these, 96 fulfilled criteria (clinical features and positive neuroimaging or electromyography/nerve conduction studies) for either acute central (group A, n=60, 62.5%) or peripheral (group B, n=30, 31.3%) nervous system demyelination, or a CCPD (group C, n=6, 6.3%). RESULTS: Significant differences among the groups (A vs B vs C) were evident for occurrence of disease between 2013-2015 (45.0% vs 43.3% vs 83.3%; P=0.024), admission to intensive care unit (8.3% vs 26.7% vs 50.0%; P=0.027), length of hospitalization (median, 9.7 vs 12.3 vs 48.3 days; P<0.001), treatment with steroids (88.3% vs 10.0 vs 100.0%; P=0.003), immunoglobulins (13.3% vs 100.0% vs 100.0%; P=0.002) and plasmapheresis (0.0% vs 3.3% vs 50.0%; P=0.037) and severe disability at discharge (3.3% vs 16.7% vs 33.3%; P=0.012). Children of group C showed good response to simultaneous use of immunoglobulin and high-dose corticosteroids and earlier try of plasmapheresis, however, two patients had moderate degree of neurological disability. CONCLUSION: Systemic studies using neuroimaing and electromyography/nerve conduction studies in all patients with demyelinating disease will be necessary to verify the combined or isolated disease, because CCPD might have the poorer outcome than isolated disease.
Adrenal Cortex Hormones
;
Child*
;
Demyelinating Diseases*
;
Encephalomyelitis, Acute Disseminated
;
Guillain-Barre Syndrome
;
Hospitalization
;
Humans
;
Immunoglobulins
;
Intensive Care Units
;
Miller Fisher Syndrome
;
Myelitis, Transverse
;
Nervous System
;
Neuroimaging
;
Optic Neuritis
;
Peripheral Nervous System
;
Plasmapheresis
;
Retrospective Studies
;
Steroids

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