• Clinical and Experimental Pediatrics
• /
• 제55권12호
• /
• pp.487-490
• /
• 2012

We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

• Genes and Genomics
• /
• 제40권11호
• /
• pp.1149-1155
• /
• 2018

Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, enhance epileptogenesis and in human may leads to facial dysmorphism, intellectual disability, seizure and macrocephaly. Objective of this study was to find out novel gene or novel mutation related to the gene phenotype. We have identified a large consanguineous Saudi family segregating developmental delay, intellectual disability, epilepsy, high forehead and macrocephaly. Exome sequencing was performed in affected siblings of the family to study the novel mutation. Whole exome sequencing data analysis, confirmed by subsequent Sanger sequencing validation study. Our results showed a novel homozygous mutation (c.9368G>A) in a substitution of a conserved glycine residue into a glutamic acid in the exon 67 of SZT2 gene. The mutation was ruled out in 100 unrelated healthy controls. The missense variant has not yet been reported as pathogenic in literature or variant databases. In conclusion, the here detected homozygous SZT2 variant might be the causative mutation that further explain epilepsy and developmental delay in this Saudi family.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• 제7권1호
• /
• pp.92-109
• /
• 1996

본 연구에서는 정상 지능 범위의 만성 특발성 경련 질환으로 치료중인 40명의 환아군과, 나이, 성별, 학업 성적, 지능 지수를 일치시킨 30명의 대조군을 대상으로, 국내외를 통해 신뢰도 및 타당도가 확인된 평가 도구들인, 부모용 아동 행동 조사표(Child Behavior Checklist)의 한국판, DSM-III-R에 따른 파탄적 행동 장애 척도(Disruptive behavior disorders scale according to DBM-III-R)의 한국판, 예일 아동 평가표(Yale children's inventory)의 한국판, 소아 우울 척도(Children's Depression Inventory)의 한국촌, 소아용 상태 및 특성불안 척도(State-Trait Anxiety Inventory for children)의 한국판, 피어스-해리스 자기 개념 척도(Piers-Harris self-concept questionnaire)의 한국판. 가정 환경 척도(Family environment Scale)의 한국판, 간이 정신진단 검사(Symptom check-list-90)의 한국판, 경련질환에 대한 부모태도 척도(Parent's attitude to epilepsy questionnaire)의 한국판, 아동 의존척도(self-administered dependency questionnaire)의 한국판을 사용하였고, 이들 결과로 부터 얻은 자료의 일부인 환아의 정신병리 부분과 경련 질환의 신경과적인 변수들인 환아의 성별 및 나이, 경련 질환 발병시 나이와 유병기간, 경련질환의 임상적 유형, 뇌파의 유형 최근 6개월간의 경련 빈도, 항경련 약물 치료력과 그 반응등과의 관련성을 평가하였다. 위에서 얻은 자료들을 토대로 분석하여 다음과 같은 연구 결과를 얻었다. 환아의 우울과 관계된 위험 요인은, 조기 발병(early onset), 복합성 부분 간질(complex partial seizure), 뇌파상 편측성 측두엽 이상(lateralized temporal focal abnormality in EEG), 약물 병합 투여(drug polypharmacy), 고 빈도 경련(high seizure frequency)임을 알 수 있었고, 이들 위험요인들은 상호 연관되어 있었다. 불안에 영향을 미치는 요인은 높은 연령. 뇌파상 편측성 측두엽 이상, 고 빈도 경련이었고, 학습 및 언어적 문제와 관련이 있는 위험 요인은 환아의 어린나이, 조기 발병, 복합성 부분 간질, 고빈도 경련 등이었다. 주의력 결핍 과잉행동 장애와 반항 및 품행장애에 영향을 미치는 위험 요인은 남성, 어린 나이, 조기 발병, 뇌파상 편측성 측두엽 이상, 고 빈도 경련등이었다. 위의 결과를 종합하면, 우울, 불안, 품행장애 및 주의력 결핍 과잉 행동장애에 공통적으로 관계되는 위험요인은, 뇌파상 편측성 측두엽 이상, 고 빈도 경련이라는 겻을 알 수 있었다. 향후 연구를 통해서는 신경학적 요인이외에 가족 및 사회-인구학적 위험 요인을 찾는 연구가 지속되어야 하며, 이를 통해 종합적 위험 요인 평가 작업과 치료적 대안을 제시하는 후속 작업이 지속 되어야 할 것 이다.

• 농촌의학ㆍ지역보건
• /
• 제4권1호
• /
• pp.41-61
• /
• 1979

Two interview surveys (1976 for 800 patients, 1978 for 200 patients) and an inventory survey through medical records(1978) for epileptic patients who have registered with the Korean Epilepsy Association (Rose Club) since 1971 were carried out by trained health workers in advance of survey. The data obtained from the analysis showed as follows: 1) 35.2% of patients were born in Seoul and 70. 6% of patients born elsewhere have lived in Seoul. 2) 50-60% of patients were 15-30 years cid. 3) 33.4%, 24,6 and 24.6 of all pupils and students went to elementary, junior and senior high schools respectively. 4) 21.2% of all pupils and students had dropped out of school and 51.4% of them were away from school because of epilepsy. 5) 3.1% of all patients had no job at all and students comprised 20.9% of patients followed by clerical work, commercial business and farming with about 6% in each group.6) Reasons given for unemployment such as dismissal (4.3%), quit (27.7%), hesitation to employ (42.5%)and discontinuance of job (25.5%) were basically due to epilepsy. 7) About half(46.2%) of all patients have become Christian since the Rose Club was a voluntary agency which has been sponsored by Christians. 8) 82. 6% of patients were diagnosed as having grand mal as the most. 9) 29.4% of patients explained aura with psychomotor disturbances and 13.8% with sensory disorders. 10) 46.3% of patients were attacked with seizures when they were tired and others(11.6% and 4.9%) after excessive eating and hunger. 11) Patients suffered more seizures in spring and summer rather than in autumn and winter and most patients had attacks 1-5 times a month. 12) For etiologic reasons of epilepsy, 35.5% of patients considered it was caused by psychological stress and 11.5% by trauma. Only 1.1% of patients considered it as having hereditary components. 13) 51% of patients were slow in caring for their own illnesses. They started to reat epilepsy after spending 5 years of time from the initial seizure. Only 5.4% of patients had received the modern anti-epileptic therapy right after the nitial seizure. 14) 62.1% of patients had no therapy or irregular or incomplete treatment before registration at the Rose Club Clinic. 15) Before registration at the Rose Club, 42.4% of patients received medical care. On the other hand, 25.6% went to herb doctors and 12.5% used to go to the drugstore in order to get anti-epileptic drugs. 16) 41. 6% of patients who took anti-epileptic drugs had more or less side-effects. Indigestion was the most common. 17) For continuation of treatment, 30.3% have received treatment for more than 5 years and the evident showed that epilepsy took a longer time to be cured. 18) Regarding the medical care received 44.2% of patients were very satisfied with effective care and 26.5% felt as good. 19) For attitudes toward epilepsy. 27.0% of patients and 68.2% of patients family were pessimistic. 20) 65.9% of patients had optimistic attitudes toward effectiveness of medical care of epilepsy. 21) 64.8% of wives and husbands had better understanding and cooperative for their spouses who had epilepsy. 22) 33.3% of patients were under-treated at the place of work. 23) 70.2% of patients wished to marry when they reach childbearing age and 63% wished to have children. Through the above results it is recommended for nation-wide epilepsy control that the sound and correct health education not only from health aspect but also from welfare aspect should be planned and implemented as soon as possible.

• 대한장애인치과학회지
• /
• 제12권1호
• /
• pp.16-19
• /
• 2016

본 증례의 환아들의 경우, PEG-tube를 통한 식이로 구강 위생관리가 용이하며, 사지마비 및 의식 저하로 스스로 장치의 탈착이 어렵다는 점에서 가철성 장치를 장착한 결과 양호한 치유 양상이 관찰되었다. 구강조직에 자해로 인한 손상이 발생한 경우, 환자의 병력, 현재 상태, 치료 기간 등을 고려하여, 환자에게 가장 바람직한 치료 계획을 세워야 한다. 가철성 장치를 이용하는 경우, 구강 위생 관리 및 병소의 관찰을 위하여 주기적인 치과 검진이 필요하다.

• Clinical and Experimental Pediatrics
• /
• 제57권9호
• /
• pp.384-395
• /
• 2014

Febrile seizure (FS) is the most common seizure disorder of childhood, and occurs in an age-related manner. FS are classified into simple and complex. FS has a multifactorial inheritance, suggesting that both genetic and environmental factors are causative. Various animal models have elucidated the pathophysiological mechanisms of FS. Risk factors for a first FS are a family history of the disorder and a developmental delay. Risk factors for recurrent FS are a family history, age below 18 months at seizure onset, maximum temperature, and duration of fever. Risk factors for subsequent development of epilepsy are neurodevelopmental abnormality and complex FS. Clinicians evaluating children after a simple FS should concentrate on identifying the cause of the child's fever. Meningitis should be considered in the differential diagnosis for any febrile child. A simple FS does not usually require further evaluation such as ordering electroencephalography, neuroimaging, or other studies. Treatment is acute rescue therapy for prolonged FS. Antipyretics are not proven to reduce the recurrence risk for FS. Some evidence shows that both intermittent therapy with oral/rectal diazepam and continuous prophylaxis with oral phenobarbital or valproate are effective in reducing the risk of recurrence, but there is no evidence that these medications reduce the risk of subsequent epilepsy. Vaccine-induced FS is a rare event that does not lead to deleterious outcomes, but could affect patient and physician attitudes toward the safety of vaccination.

• 대한임상검사과학회지
• /
• 제39권1호
• /
• pp.56-62
• /
• 2007

Lennox-Gastaut syndrome(LGS) is a severe age-specific epilepsy syndrome that causes medication-resistant seizures in childhood. Vagal nerve stimulation (VNS) has been proposed as a possible way to improve the treatment of refractory epilepsy. We treated 9 patients with Lennox-Gastaut syndrome between the ages of 2 and 11 years (mean 5.8 years), by using the vagus nerve stimulation. The mean follow-up duration was 35 months. The mean reduction of seizure frequency compared with baseline before VNS was 52% after 6 months (range, 0% to 89%; P<0.011), and 58% after 1 year (range 0% to 89%; P<0.012). Seven patients showed improvements of quality of life (QOL) such as alertness, mood, and language skills. The most common side effects were transient hoarseness (6 patients) and drooling (1 patient). Our results suggest that the vagus nerve stimulation could be an effective and safe adjunct therapy for the treatment of Lennox-Gastaut syndrome.

• Clinical and Experimental Pediatrics
• /
• 제48권5호
• /
• pp.527-533
• /
• 2005

목 적 : 소아 간질 환아에서 장기간 항경련제를 투여시 저신장, 저칼슘혈증, 골밀도 저하가 올 수 있는 것으로 알려져 있다. 저자들은 골밀도 및 골표지자의 연구를 통해 항경련제 투여 환아의 골대사 질환의 위험을 조기 발견할 수 있는지 알아보고자 하였다. 방 법 : 간질로 단국대학교병원 소아과에서 12개월 이상 항경련제 치료를 받고 있는 환자들 중 5-16세의 환아 30명을 대상으로 2003년 7월부터 2004년 2월 사이에 본 연구를 시행하였다. 대상 환아들을 carbamazepine과 valproic acid를 단독 투여군과 2가지 이상의 항경련제를 병합투여한 군으로 나누었고, 요추부 골밀도, 체질량지수, 골연령 및 골표지자들을 측정한 후, 남녀별, 연령별로 분류하여 대조군과 비교하였다. 결 과 : 총 30명이었으며, 검사 당시 평균연령은 $10.4{\pm}3.1$세(5-16세)이었다. Carbamazpine 단독 투여군 10명, valproic acid 단독 투여군 6명, 2가지 이상의 약물을 투여 받은 복합 투여군이 14명이었고 복합 투여군 중에는 뇌성마비 2명, 소두증 2명, 뇌연화증 1명, 선천성심장병 1명이 포함되었다. 각 투여군 간에는 요추 골밀도, 칼슘, 인, 알칼리성 인산화효소, $25(OH)D_3$, 오스테오칼신, 부갑상선호르몬, deoxypyridinoline, 골연령 등의 차이는 없었다. 남녀별, 연령별로 나누었을 때 5세 및 15세 여아에서 -2.5 SDS 미만의 의미있는 골밀도의 감소를 보였으며, 체질량지수는 5 percentile 미만의 현저한 감소를 보이고 있었고, 골 연령 및 신장도 감소되어 있었다. 이러한 감소를 보인 두 명의 환아 중 5세 환아는 심방중격결손증 및 소두증을 가지고 있었으며 15세 여아는 뇌성마비 및 뇌연화증이 있었고 좌하지 골절의 기왕력이 있었으며 두 환아 모두 2가지 항경련제를 4년 이상 투약 받았다. 골밀도는 체질량지수 및 골연령과 통계적으로 의미있는 양의 상관관계를 보였다. 결 론 : 장기간 항경련제를 복용하는 소아환자들에 있어 특히, 신체활동이 제한되어 있거나 다른 만성질환을 동반한 경우에는 골대사에 대한 세심한 주의가 필요하며 주기적으로 키, 몸무게를 측정하여 체질량지수 및 신장의 SDS를 산출하는 것이 골대사에 대한 간단하면서도 중요한 검사가 될 수 있을 것으로 생각된다.

• Clinical and Experimental Pediatrics
• /
• 제53권8호
• /
• pp.786-789
• /
• 2010

Induced pluripotent stem (iPS) cells are generated by epigenetic reprogramming of somatic cells through the exogenous expression of transcription factors. Recently, the generation of iPS cells from patients with a variety of genetic diseases was found to likely have a major impact on regenerative medicine, because these cells self-renew indefinitely in culture while retaining the capacity to differentiate into any cell type in the body, thereby enabling disease investigation and drug development. This review focuses on the current state of iPS cell technology and discusses the potential applications of these cells for disease modeling; drug discovery; and eventually, cell replacement therapy.

• 대한간호학회지
• /
• 제43권2호
• /
• pp.247-255
• /
• 2013

Purpose: This study was done to evaluate the effects of 3 times/week and 5 times/week abdominal meridian massage with aroma oils (AMMAO) on the relief of constipation among hospitalized children with disabilities involving the brain lesions (cerebral palsy, epilepsy, and others). Methods: The participants were 33 hospitalized children with a disability involving the brain (15 were in the 5 times/week of AMMAO group and 18 were in the 3 times/week of AMMAO group). Data were collected from March 21 to May 1, 2011. Chi-square test, t-test, and repeated measures ANOVA with SPSS 18.0 were used to evaluate the effects of AMMAO. Results: While there was no significant difference between the two groups, there was a significant difference within groups between baseline and the end of the intervention period for the following, frequency of suppository use or enemas, amount of stool, and number of bowel movements. Conclusion: The results of this study indicate that AMMAO is an effective nursing intervention in relief of constipation for hospitalized children with a disability involving the brain. Therefore it is recommended that AMMAO be used in clinical practice as an effective nursing intervention for relief of constipation to these children.