• Journal of Genetic Medicine
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• 제15권1호
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• pp.38-42
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• 2018

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.

• 가정간호학회지
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• 제24권2호
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• pp.200-209
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• 2017

Purpose: This study aimed to evaluate the effects of sociodrama on mothers of adolescents receiving special education at school. Methods: The participants were 30 mothers of adolescents with autism and intellectual, physical, emotional, and behavioral disability (experimental group=8, control group=16, 4 excluded). Sociodrama was conducted over 6 weeks (6 sessions). Data were collected using a mixed method. A constructed questionnaire on parenting stress, depression, and parenting self-efficacy was distributed before and after the intervention. A focus group interview was conducted subsequently. Data were collected from May to June 2016 and analyzed using Wilcoxon-Mann-Whitney test and a content analysis. Results: The intervention group showed significant changes in parenting stress (Z=-2.34, p=.019), depression (Z=-.3.46 p=.001), and parenting self-efficacy (Z=-2.82, p=.029) compared with the control group. Results of the qualitative analysis exhibited two themes, namely "changes" and "healing and challenges," which were divided into 4 categories and 9 sub-categories. Conclusion: Sociodrama was effective in reducing the level of parenting stress and depression, and increased the level of parenting self-efficacy in participants. Sociodrama can be recommended as an intervention program for parents raising adolescents receiving special education.

• 한국게임학회 논문지
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• 제15권3호
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• pp.161-176
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• 2015

본 연구의 목적은 인권 침해와 관련한 게임 기반 스크립트 중재가 초등 장애아동의 언어적 행동적 자기옹호의 습득과 유지에 미치는 영향을 알아보기 위함이었다. 지적장애 초등학생 4명을 대상으로 대상자간 중다 간헐 기초선 설계(multiple probe design across subjects)를 사용하여 게임에 기반한 스크립트 중재를 실시한 결과, 도움 요청하기, 의사표현, 폭력의 대응하기의 영역에서 연구 참여자 모두 언어적 자기옹호와 행동적 자기옹호의 긍정적 향상이 나타났으며 그 효과가 유지되었다. 또한 네 학생 모두 행동적 자기옹호보다 언어적 자기옹호에 있어 더 높은 효과가 나타났다. 본 연구는 기존 자기 결정의 하위 요소로만 다루어지던 자기옹호에 대해 인권 요소와 침해 사례를 기반으로 독립적인 자기옹호의 프로그램을 구조화하였다는 점에서 후속 연구에 유용한 정보를 제공한다.

• 대한치과마취과학회지
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• 제11권1호
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• pp.51-54
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• 2011

Wolff-Hirschorn syndrome is a condition that is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. A 9-year-old girl was brought to the clinic with a chief complaint of dental examination. The child was diagnosed as WHS at Samsung medical center. The child was under Sodium valproate, Atrovastatin medication for epilepsy, hyperlipidemia and had a history of heart surgery. So prophylactic antibiotics were recommended. The child was mentally retarded and had seizure so it was difficult to manage her behavior effectively. Thus dental treatment was carried out under general anesthesia. For prompt sedation induction we used 8% sevoflurane shortly. This report presents the case of a 9-year-old girl with WHS, who has received treatment for extensive caries under general anesthesia.

• Journal of Dental Anesthesia and Pain Medicine
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• 제16권3호
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• pp.217-222
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• 2016

Dental treatment is often performed under general anesthesia or sedation when an intellectually disabled patient has a heightened fear of treatment or has difficulty cooperating. When it is impossible to control the patient due to the severity of intellectual disability, conscious sedation is not a viable option, and only deep sedation should be performed. Deep sedation is usually achieved by propofol infusion using the target controlled infusion (TCI) system, with deep sedation being achieved at a slightly lower concentration of propofol in disabled patients. In such cases, anesthesia depth monitoring using EEG, as with a Bispectral Index (BIS) monitor, can enable dental treatment under appropriate sedation depth. In the present case, we performed deep sedation for dental treatment on a 27-year-old female patient with mental retardation and severe dental phobia. During sedation, we used BIS and a newly developed Anesthetic Depth Monitor for Sedation (ADMS$^{TM}$), in addition to electrocardiography, pulse oximetry, blood pressure monitoring, and capnometry for patient safety. Oxygen was administered via nasal prong to prevent hypoxemia during sedation. The BIS and ADMS$^{TM}$ values were maintained at approximately 70, and dental treatment was successfully performed in approximately 30 min.

• 대한유전성대사질환학회지
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• 제19권1호
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• pp.26-30
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• 2019

EFMR은 뇌전증을 보이는 여자 환자에게서 지적장애가 동반된 것이 특징적인데 이들 중 PCDH19 변이와 연관이 있는 경우를 PCDH19 연관성 뇌전증으로 분류하였다. PCDH19 연관성 뇌전증은 조기에 발병하며 열에 민감하고 잘 조절되지 않는 군집발작을 보이는 것이 특징이다. 발달장애나 인지 및 행동장애를 동반할 수 있으며 정상에서부터 중증까지 다양하게 나타날 수 있다. 최근 이러한 질환에서 유전적 원인을 찾고자 하는 노력으로 뇌전증 유전자 패널을 이용하는 경우가 많아지고 있다. 저자들은 EFMR 환자에서 뇌전증 유전자 패널을 이용한 유전자 검사상 PCDH19 돌연변이가 확인된 사례를 경험하였기에 보고하는 바이다.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.110-114
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• 2018

Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM 607585) on chromosome 11q22. The average prevalence of the disease is estimated at 1 of 100,000 children worldwide. The prevalence of AT in the Republic of Korea is suggested to be extremely low, with only a few cases genetically confirmed thus far. Herein, we report a 5-year-old Korean boy with clinical features such as progressive gait and truncal ataxia, both ankle spasticity, dysarthria, and mild intellectual disability. The patient was identified as a compound heterozygote with two novel genetic variants: a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant, as revealed by next-generation sequencing and confirmed by Sanger sequencing. Based on claims data from the Health Insurance Review and Assessment Service Republic of Korea, we calculated the prevalence of AT in the Republic of Korea to be about 0.9 per million individuals, which is similar to the worldwide average. Therefore, we suggest that multi-gene panel sequencing including ATM should be considered early diagnosis.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.1-9
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• 2019

Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40-50%), SOS1 (10-20%), RAF1 (3-17%), and RIT1 (5-9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• 대한작업치료학회지
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• 제26권4호
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• pp.111-125
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• 2018

목적 : 본 연구는 그룹감각통합치료가 지적장애아동의 감각처리와 또래상호작용, 과제수행에 미치는 영향과 그 효과의 지속여부를 알아보고자 하였다. 연구방법 : 본 연구는 만 7세 이상 13세 미만의 아동 12명을 대상으로 주 3회 60분씩 8주 동안 진행하였다. 그룹감각통합치료는 감각처리와 놀이기술, 또래와의 상호작용이 포함된 총 24가지 주제에 맞는 활동으로 구성되었으며, 대상자를 선별하기 위하여 단축감각프로파일을 사용하였다. 결과를 측정하기 위하여 단축감각프로파일과 또래놀이 상호작용 평점척도, 캐나다 작업수행 측정을 사용하여 대상자의 감각처리와 또래상호작용, 과제수행의 사전 사후 추적 평가를 실시하였다. 측정 결과는 반복측정 분산분석을 사용하여 사전 사후 추적조사의 평균 점수 차이를 분석하였고, 윌콕슨 순위검정을 사용하여 사전 사후 추적조사의 변화의 차이를 비교하여 분석하였다. 결과 : 그룹감각통합치료 중재 이후 대상자들의 감각처리와 또래상호작용, 과제수행에 유의한 향상을 보였다(p<.05). 4주후 실시한 추적조사에서 치료의 효과가 유지되는 것을 확인하였다. 결론 : 그룹감각통합치료는 감각처리능력의 증진뿐만 아니라, 또래상호작용이 필요한 학령기 아동들에게 모방과 그룹 안에서의 연습을 제공하고, 일상생활까지 그 효과를 연결할 수 있는 효과적인 중재방법이다.