• Title/Summary/Keyword: Intellectual Disorder

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DENTAL TREATMENT OF CHILDREN WITH ANGELMAN SYNDROME : CASE REPORTS (Angelman syndrome 환자의 치과치료 : 증례보고)

  • Bak, So-Yeon;Kim, Chong-Chul;Lee, Sang-Hoon;Jang, Ki-Taeg;Kim, Jung-Wook;Kim, Young-Jae;Shin, Teo-Jeon;Hyun, Hong-Keu
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.7 no.2
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    • pp.115-118
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    • 2011
  • Angelman syndrome(AS) is a rare genetic neurological disorder. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, speech impairment, jerky movements especially hand-lapping, frequent laughter or smiling. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking/swallowing disorder, mandibular prognathism, frequent drooling, and excessive chewing behavior. The purpose of this paper is to describe the interesting aspects of the dental treatment of a childe with AS.

Neurological Outcome of Patients with Late-onset Ornithine Transcarbamylase Deficiency (지발형 오르니틴 트랜스카바미라제 결핍증 환자들의 신경학적 예후)

  • Jang, Kyung Mi;Hwang, Su-Kyeong
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.22 no.1
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    • pp.15-20
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    • 2022
  • The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.

A study on stress in Children (소아(小兒) stress에 관한 문헌적(文獻的) 고찰(考察))

  • Kim, Ki-Bong;Kim, Jang-Hyun
    • The Journal of Pediatrics of Korean Medicine
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    • v.16 no.1
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    • pp.105-124
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    • 2002
  • With the progress of civilization, the disorders due to the stress, which derived from the social-structural complexity and diversity, are on an increasing trend in our times. Accordingly, the accurate diagnosis and appropriate treatment for them are required. Especially in the current years, children's disorders delivered by the emotional problems keep increasing. In this research, the researcher tried to figure out the cause of the children's stress and its treatment, studied the theories of the stress in the modem medicine and the sever emotions in oriental medicine, and came to the conclusion as follows: 1. The stress can be defined as the combination of the reaction to noxious stimuli and its defense mechanism of the body, In oriental medicine, it is considered as pathological notions which includes seven emotions as the internal factor, six evils as the external factor and other foods, expectoration, ecchymoma as the non-internal/external factors. 2. Children usually get stressed by various reasons in a growth process such as schooling, relationship with friends, the opposite sex of family, or change of surroundings, and these can cause the various disorders. 3. In the study of the children's stress symptoms, it is found that the silent reaction is uncommon. It usually appeared in both reactions: firs, physical reactions such as stomachache, vomiting, headache, neural frequent urination, bronchial asthma or excessive respiration and/or, second, behavioral reactions such as a decline of performance, alimentary disorder, e.g. anorexia nervosa or bulimia, sleep disorder, e.g. nightmare or panic in sleep, anthrophobia, refusal to a school attendance or hyperactiveness. Besides, the peculiar mental disorder such as paroxysm of anger, tic, autism, nocturnal enuresis, lack of attentiveness, impediment in linguistic development, learning difficulty, intellectual decline, etc. can be appeared, and the heavy stress during the babyhood can cause the regression of behavior or the immaturity of formation of character. 4. The appropriate treatments for the children's stress are Osteopathy, Manpulation, Aroma Therapy, Alexander Technique, Autonomic Never Control Treatment, Biofeedback, Chiropractic, Dance Therapy, Feldenkrasis Technique, Gravity Therapy, Homepathy, Aquatherapy, Hypnotherapy, Naturopathy and Meditation.

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The Relationship between Anxiety and Depression Symptoms of Children with Post-Traumatic Stress Disorder and Their Parents (외상 후 스트레스장애 아동의 정신병리와 부모의 우울불안 증상과의 관계)

  • Park, Subin;Kim, So Yoon;Kwon, Oh-Hyang;Bae, Jeong-Hoon;Yoo, Hee Jeong
    • Anxiety and mood
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    • v.9 no.1
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    • pp.19-24
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    • 2013
  • Objectives: The objective of this study is to examine the association between the children's psychopathology and age, intellectual quotient, and parental psychopathology in children with post-traumatic stress disorder (PTSD). Methods: The emotional and behavioral problems of 35 children with PTSD (23 boys, 12 girls, mean age, $10.26{\pm}2.47$ years) were investigated by retrospective chart review. Their parents' anxiety and depression symptoms were also investigated. We examined the correlations between children's psychopathology and their parents' anxiety and depression symptoms, as well as their age and IQ. Results: There were positive correlations between maternal trait anxiety and depression, and children's emotional problems. State and trait anxiety of children with PTSD were positively correlated with age, and attention-deficit hyperactivity disorder symptoms were negatively correlated with age. Conclusion: Our results suggest that psychiatric manifestation of children who experienced trauma could differ according to the development stage, and the treatment of children with PTSD should involve parental education about the effect of maternal emotional states on children.

A Systematic Study on the Effect of Social StoryTM Intervention for Individual with Autism Spectrum Disorder (자폐스펙트럼장애 아동을 위한 상황이야기 중재의 효과 연구에 대한 체계적 고찰)

  • Bae, Won-Jin;Park, Ju-Young
    • Journal of The Korean Society of Integrative Medicine
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    • v.9 no.2
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    • pp.131-140
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    • 2021
  • Purpose : The purpose of this study was to systematically review the studies on the effects of social story intervention on the individuals with autism spectrum disorders(ASD) to provide the basis for evidence-based practice. Methods : In order to find out the studies on the effect of social story intervention on individuals with ASD, studies published from 2011 to December 2020 were searched on Google Academic Search. The keywords used were "autism spectrum disorder AND social story". A total of 16,900 studies were searched, and from these, 12 studies were selected based on the application of the selection and exclusion criteria. The included studies comprised of 10 single subject design studies and 2 randomized controlled trials design studies. The included studies were analyzed in accordance to population, intervention, outcome measures and results. Results : As a result of analysing the subjects of the included studies, we found out that pre-school children and adolescents were the most common groups of individuals diagnozsed with ASD. In addition to ASD, the diagnosis of the subjects included intellectual disability, Asperger, and Prader-willi. We found out that there were more interventions that were mixed with other interventions, than just the pure social story interventions. In particular, video modeling was found to be the most frequent intervention. This was followed by photo-based social stories. For outcome measure, autism social skills profile was found to be the most often used standardized assessment. For a non-standardized assessment, social desired behavior was found to be the most frequently evaluated behavior, followed by personal problem behavior. Of all the dependent variables, the dependent variable reported as "effective" was the most, followed by "some effective". Conclusion : This study is organized to help the individuals with ASD, families, researchers, and therapists understand the effects of social story intervention on the individuals with ASD in an easy fashion. Further, therapists can use this study as the basic data for evidence-based practice.

Recent Trends in Clinical Research of Herbal Medicine for Tic Disorder in Children - Focused on Chinese Randomized Controlled Trials - (소아 틱장애의 한약치료에 대한 최신 임상연구 동향 - 중국 무작위 대조군 임상연구를 중심으로 -)

  • Kim, Jae Hyun;Park, Yong Seok;Jeong, Yoon Kyoung;Chang, Gyu Tae
    • The Journal of Pediatrics of Korean Medicine
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    • v.36 no.1
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    • pp.38-56
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    • 2022
  • Objectives The purpose of this study was to analyze the trend of recent randomized controlled trials (RCTs) that used herbal medicine for the treatment of tic disorders in China and to evaluate the efficacy and safety of the treatment. Methods RCTs published from January 2017 to December 2021 were searched for using the China National Knowledge Infrastructure (CNKI). These were then analyzed using herbal medicine treatment methods and their results. Results A total of 35 randomized controlled trials were selected and analyzed. In most studies, evaluation indicators such as the Yale tic symptom scale and total effective rate were significantly improved in the herbal medicine treatment group compared to the control group. The most commonly used herb for tic disorder was Uncaria Rhynchophylla (釣鉤藤), followed by Glycyrrhizae Radix (甘草), Gastrodiae Rhizoma (天麻), Paeoniae Radix Alba (白芍藥), Batryticatus (白殭蠶), Poria (茯笭), and Bupleuri Radix (柴胡). In all studies that reported adverse events, herbal medicine was identified as a relatively safe treatment with fewer adverse reactions or no significant difference compared with the control group. Conclusions Based on the results of RCTs, herbal medicine has been shown to be safe and effective for the treatment of intellectual disability. However, additional well-designed large-scale clinical trials are needed to confirm these findings.

Coffin-Lowry Syndrome - The First Genetically Confirmed Case in Korea Diagnosed by Whole Exome Sequencing

  • Yoon, Ju Young;Cheon, Chong Kun
    • Journal of Interdisciplinary Genomics
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    • v.2 no.1
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    • pp.10-12
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    • 2020
  • Coffin-Lowry syndrome (CLS) is a genetic disorder characterized by intellectual disability, typical facial features, and skeletal abnormalities. But this syndrome shows highly variable clinical manifestations, and can't be diagnosed with conventional chromosome analysis or comparative genomic hybridization, leading to delayed diagnosis. Here we report an 18-year-old boy with CLS diagnosed by whole exome sequencing. Our patient initially presented with developmental delay, facial dysmorphism at the age of 1. At the age of 18, he developed orthopnea due to mitral regurgitation. At the 22 years of age, he was diagnosed as CLS diagnosed by whole exome sequencing. Our case implies that clinical suspicion is important for early diagnosis, and advanced diagnostic tools such as WES should be considered in suspected cases.

Issues in Adults Prader-Willi Syndrome

  • Park, Sung Won
    • Journal of mucopolysaccharidosis and rare diseases
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    • v.1 no.2
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    • pp.40-43
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    • 2015
  • Prader-Willi syndrome (PWS), a complex genetic disorder, arises from suppressed expression of paternally inherited imprinted genes on chromosome 15q11-q13. Characteristics include short stature, intellectual disability, behavioral problems, hypogonadism, obesity, and reduced bone and muscle. The life expectancy of persons with PWS has increased in recent years. Cardiovascular diseases, diabetes, dermatological, and orthopedic problems are common physical complaints in older people with PWS. Behavioral problems are major concerns in adults with PWS into old age. And aging is also associated with significant social and economic changes. Age-related physical morbidity, physical appearance, behavioral and psychiatric problems, functional decline and economic problems can be combined in older PWS. The care for older people with PWS requires a life span approach that recognizes the presence, progression, and consequences of specific morbidity.

Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report

  • Lee, Sun Hwa;Ryoo, Eell;Tchah, Hann
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.20 no.1
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    • pp.65-70
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    • 2017
  • Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea. Here we report a case of a 19-year-old girl who was diagnosed with BRRS because of macrocephaly, intellectual disability, and intestinal polyps. Her mother had similar findings and a PTEN mutation. Neither patient had mutations detected by conventional mutation-detection techniques, but a PTEN gene deletion was demonstrated by chromosomal microarray analysis.

Airway management during general anesthesia in an intellectually disabled patient with undiagnosed tracheomalacia

  • Shin, Sooil;Kim, Seungoh
    • Journal of Dental Anesthesia and Pain Medicine
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    • v.18 no.2
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    • pp.119-123
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    • 2018
  • In cases of intellectually disabled patients, there is sometimes difficult to obtain sufficient information due to the intellectual disorder, even though the patient has significant medical problems. Herein, we report a case of decreased oxygen saturation and inadequate air exchange during general anesthesia in an intellectually disabled patient. We also describe the subsequent management, including the diagnosis of tracheomalacia (TM) using bronchoscopy, and the management of airway compromise with manual and/or controlled respiration, which led to the prevention of complications.