• Clinical and Experimental Pediatrics
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• v.50 no.11
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• pp.1067-1071
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• 2007

Purpose : The aim of this study was to determine whether improved survival of extremely low birth weight infants (ELBWI) was associated with decreased neurodevelopmental disability later in life, and also to identify the factors influencing this disability. Methods : ELBWI admitted to the neonatal intensive care unit of Samsung Medical Center, survived, and followed up until the corrected age of 18 months were enrolled. They were divided into two groups according to admission time: period I (1994-1999, n=36) and period II (2000-2004, n=98). Clinical data were collected retrospectively from the medical records. Results : Survival rates increased from 60.0% to 74.7%, cerebral palsy rates decreased from 22.2% to 8.2% and catch-up growth rate increased from 25.0% to 51.0% during period I and II. Despite less gestational age and birth weight, ELBWI during period II had less periventricular leukomalacia (PVL), sepsis and bronchopulmonary dysplasia compared to period I. The highest risk factors for cerebral palsy were intraventricular hemorrhage (IVH) (${\geq}$Grade III), failure of catch-up growth and PVL. Conclusion : In summary, improved viability was associated with decreased neurodevelopmental disability in ELBWI. Improved neonatal care with resultant decrease in PVL and IVH, and better nutritional support seem to be primarily responsible for this improved outcome.

• Journal of the Korean Child Neurology Society
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• v.25 no.3
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• pp.200-203
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• 2017

Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the ${\beta}-III$ spectrin protein with high expression in Purkinje cells that is involved in excitatory glutamate signaling through stabilization of the glutamate transporter, and its mutation is known to cause spinocerebellar ataxia type 5. Three years and 5 months old boy with delayed development showed leukodystrophy and cerebellar atrophy in brain magnetic resonance imaging (MRI). Diagnostic exome sequencing revealed that the patient has heterozygous mutation in SPTBN2 (p.Glu1251Gln) which is a causative genetic mutation for spinocerebellar ataxia type 5. With the patient's clinical findings, it seems reasonable to conclude that p.Glu1251Gln mutation of SPTBN2 gene caused spinocerebellar ataxia type 5 in this patient.

• Journal of the korean academy of Pediatric Dentistry
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• v.38 no.1
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• pp.68-74
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• 2011

Rett syndrome is a X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. Oral manifestations of the disease are commonly associated with the clinical conditions such as convulsion activity, difficulties for oral hygiene behavior, walking problems and oral/digitalmanual habits. Bruxism is the most frequently observed oral habit in patients with Rett syndrome. Two cases with the Rett syndrome were reported. Both patients had the typical manifestations like stereotypic hand movement, bruxism and digit-hand sucking. Caries control for the patients was perfomed under general anesthesia.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.9 no.2
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• pp.237-246
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• 1998

Objectives and Methods：This study investigated clinical characteristics, treatment modality, outcome of 57 children and adolescent inpatients(male 53, female 4) who were diagnosed as pervasive developmental disorder(PDD) by DSM-Ⅳ criteria recent five years. Results：1) The mean age at admission was $96{\pm}28.2$ months, and the mean age at which they first visited treatment facility was $52{\pm}26.6$ months. The mean hospitalization period was $43.7{\pm}31.3$ days. 2) Diagnosis：Twenty-seven(47.4%) of subjects met DSM-Ⅳ criteria for PDD NOS. Fifteen (26.3%) met for autistic disorder, nine(15.8%) met for Asperger's syndrome, and two(3.5%) met for childhood disintegrative disorder. 3) Comorbid diagnosis：The most common comorbid dignosis was attention deficit hyperactivity disorder(23.8%). 4) IQ test：IQ test for twenty-eight subjects was possible. The Average of the subjects was $70{\pm}27.5$. Fifteen(53.6%) of the subjects were approximate or under 70. 5) Neurology Abnormality：EEG findings of eleven(21.2%) subjects were abnormal, brain CT or MRI findings of eight subjects(21.6%) were abnormal. 6) Family Hx：Depressive disorder were found in Eight mothers(14%). Familial loading was found in twenty families(35.1%), and familial loading of PDD was found in three(5.3%). Conclusion：The most important thing for the management of PDD is early detection and early treatment. To do so, multidisciplinary team approach should be emphasized.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1987.05a
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• pp.10.2-10
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• 1987

최근 사회구조의 발달로 우리주변에는 뜻하지 않은 청력장애를 일으키는 경우가 많고 의료보험 실시와 더불어 생활수준의 향상으로 이비인후과 외래를 찾는 청력장애자들이 많아지고 있다. 또한 청력장애를 호소하여 청각검사를 의뢰하는 타과 입원환자도 점차적으로 증가하고 있는 실정이다. 이에 저자들은 1985년 1월 1일부터 1986년 12월 31일까지 만2 년간 연세대학교 원주의과대학부속 원주기독병원 이비인후과로 의뢰된 타과 입원환자 1063예중 청각검사를 시행한 182예를 대상으로 임상청각학적 고찰을 하여 다음과 같은 결과를 얻었다. 1) 의뢰한 과별로는 신경외과(50.5%)가 제일 많았고 다음 내과(23.6%)의 순이었다. 2) 원래질환과 청력장애사이에 연관관계가 있는 경우는 102예 (56.0%)이었으며 이중 외상이 87예(86.2%)로 제일 많았다. 3)외상의 경우 폭발사고가 35예 (40.2%)로 제일 많았고 다음 교통사고 28예(32.1%)의 순이었다. 이 중 계속적인 추적치료를 시행한 경우가 9예 (10.3%)에 불과하였다. 4) 외상의 경우 청력손실의 형태별로는 전음성이 41예 (47.1%), 감음신경성이 30예(34.4%), 혼합성이 7예 (8.2%) 였으며, 사병자(malingerer)가 9예 (10.3%) 였다. 결론적으로 강원도의 지역적 특성상 탄광폭발 사고로 인한 외상후 이차적으로 청력손실을 호소하는 환자가 많은 편으로 이에 대한 적극적인 진단 및 추적치료를 위하여 특히 신경외과와 상호협조 체제가 필요할 것으로 사료된다.

• Journal of Life Science
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• v.32 no.1
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• pp.70-77
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• 2022

Endocrine disrupting chemicals (EDCs) have been attracting significant attention in modern society, owing to the increased incidence rate of various diseases along with population growth. EDCs are found in many commercial products, including some plastic bottles and containers, detergents, liners of metal food cans, flame retardants, food, toys, cosmetics, and pesticides. EDCs have a hormonal effect on the human body, which disrupts the endocrine system, notably affecting sexual differentiation and normal reproduction, and can trigger cancer as well. Recently, the association between neurological diseases and EDCs has become a hot topic of research in the field of neuroscience. Considering that EDCs negatively affect not only neuronal proliferation and neurotransmission but also the formation of the neuronal networks, EDCs may induce neurodevelopmental disorders, such as autism spectrum disorders and attention-deficit/hyperactivity disorder as well as neurodegenerative diseases, including Parkinson's disease and Alzheimer's disease. In light of these potentially deleterious outcomes, important efforts have been underway to minimize the exposure to EDCs through appropriate regulations and policies around the world, but chemicals that have not yet been associated with endocrine disrupting properties are still in wide use. Therefore, more epidemiological investigations and research are needed to fully understand the effects of EDCs on the nervous system.

• Clinical and Experimental Pediatrics
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• v.50 no.11
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• pp.1061-1066
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• 2007

Purpose : Early identification of developmental disabilities allows intervention at the earliest possible point to improve the developmental potential. The Ages and Stages Questionnaire (ASQ), a parent- completed questionnaire, can be used as a substitute for formal screening tests. The purpose of this study was to evaluate the validity of the Korean version of the ASQ (K-ASQ) as a screening tool for detecting developmental delay of young Korean children in the setting of a busy pediatric outpatient clinic. Methods : Parents completed the K-ASQ in the waiting room of the pediatric outpatient clinic of St. Mary's Hospital, Catholic University Medical College. Out of 150 completed the ASQ, 67 who were born term and had no previous diagnosis of developmental delay, congenital anomalies, or neurological abnormalities were enrolled. The cut-off values of less than 2 standard deviations (SD) below the mean for the ASQ were used to define a "fail", and children who failed in one or more domains tested were classified as "screen-positive". Diagnosis of developmental delay was made when the developmental indices fell below -1 SD of the Bayley Scales of Infant Development-II. Results : (1) The mean age of children was $16.4{\pm}7.4$ months. Ten children (14.9%) were small-for- gestational age infants. The mean birth weight and gestational age were $3.1{\pm}0.6kg$ and $38.8{\pm}1.4$ weeks. Nine children (13.4%) were twins and 33 (49.0%) were male. The mean maternal education in years was $13.6{\pm}2.4$, and 31.3% had full-time jobs. The time for completing the ASQ was $10.2{\pm}3.0$ minutes. (2) Seventeen children (25.4%) were classified as screen-positive, four of them were delayed in development. Among eight children diagnosed with developmental delay, four were screen-positive and the other four were screen-negative by the ASQ. (3) The test characteristics of the ASQ were as follows: sensitivity (50.0%); specificity (78.0%); positive predictive value (23.5%); negative predictive value (92.0%). Conclusion : The high negative predictive value of the K-ASQ supports its use as a screening tool for developmental delay in the setting of a pediatric outpatient clinic.

• Neonatal Medicine
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• v.18 no.2
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• pp.399-403
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• 2011

Brain abscesses in neonates are extremely rare and usually occur in patients with certain risk factors. A 1-month-old boy presented at the hospital with fever and irritability. As a result of preterm delivery and low birth weight, he had a history of admission to the neonatal intensive care unit. Neuroimaging revealed a large, space-occupying lesion in both frontal lobes, which was suspected to be an abscess with the midline shifting to the right. With a single aspiration and abscess drainage along with concurrent prolonged parenteral antibiotic therapy, the patient showed an excellent treatment outcome with normal development. The focus will be placed on minimally invasive surgical management as well as positive outcomes.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.14 no.1
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• pp.123-127
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• 2003

Cornelia de Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, mental retardation, growth retardation and neurodevelopmental abnormalities. Diagnosis for the Cornelia de Lange syndrome is dependent on the clinical observation because neither definite biological marker nor definite chromosomal abnormality have been investigated. Clinical observation is important for the diagnosis, so we report a case of Corenelia de Lange syndrome with mental retardation and autistic disorder. The patient is a 6-year old girl. Her motor development and language development have been delayed. She could say no meaningful word and understood simple command partially. She showed poor eye contact and poor emotional interaction. Social interaction was impaired and she Showed stereotypic behaviors. Thus we diagnosed her as mental retardation with autistic disorder. She had vesicoureteral reflux, frequent upper respiratory infection and pneumonia. She had experienced febrile convulsions 4 times. She had short stature, confluent eyebrows, long eyelashes, and upturned nose with anteverted nostrils. She also showed low hairline and hypertrichosis in body and extremities. Her finger was short. In this case, we diagnosed Cornelia de Lange syndrome by her characteristic face, hypertrichosis and medical and behavioral problems that were frequently showed in this syndrome.