• Journal of rehabilitation welfare engineering & assistive technology
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• v.2 no.1
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• pp.1-4
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• 2009

In this paper, I will report the cases of children who are able to study at kindergarten or elementary school because they learned how to move by themselves using a moving aid before school age, and I will also discuss the development of a mobility device which allows severely disabled preschoolers to practice moving around by themselves safely and easily at home and institutions.

• Korean Journal of Clinical Laboratory Science
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• v.42 no.2
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• pp.97-102
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• 2010

The two new female cases of Angelman syndrome (AS) were described, which diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect the deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as the clinical markers for early diagnosis of AS. Most of the authors agreed about the existence of three main EEG patterns in AS which may appear in isolation or in various combinations in the same patient. The most frequently observed pattern in children has prolonged runs of high amplitude rhythmic 2-3 Hz activity predominantly over the frontal region with superimposed interictal epileptiform discharges. High amplitude rhythmic 4-6 Hz activity, prominent in the occipital regions, with spikes, which can be facilitated by eye closure, is often seen in children under the age of 12 years. The EEG findings are characteristic of AS when seen in the appropriate clinical context and can be helpful to identify AS patients at an early age when genetic counselling may be particularly important.

• Journal of Genetic Medicine
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• v.19 no.2
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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.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.10 no.2
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• pp.145-157
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• 1999

This study was performed by the children and adolescents who were abused or neglected physically, emotionally that were selected in child & adolescents psychiatric ward. We investigated the number of these case in admitted children & adolescents, and also observed characteristics of symptoms, developmental history, characteristics of abuse style, characteristics of abusers, family dynamics and psychopathology. We hypothesized that all kinds of abuse will influnced to emotional, behavioral problems, developmental courses on victims, interactive effects on family dynamics and psychopathology. That subjects were 22 persons of victims who be determined by clinical observation and clinical note. The results of the study were as follows：1) Demographic characteristics of victims：ratio of sex was 1：6.3(male：female), mean age was $11.1{\pm}2.5$. According to birth order, lst was 12(54.5%), 2nd was 5(23%), 3rd was 2(9%) and only child was 3(13.5%). 2) Characteristics of family：According to socioeconomic status, middle to high class was 3(13.5%), middle one was 9(41.% ), middle to low one was 9(41%), low one was 1(0.5%). according to number of family, under the 3 person was 3(13.5%), 4-5 was 17(77.5%), 6-7 was 2(9%). according to marital status of parents, divorce or seperation were 5(23%), remarriage 2(9%), severe marital discord was 19(86.5%). In father, antisocial behavior was 7(32%), alcohol dependence was 10(45.5%). In mother, alcohol abuse was 5(23%), depression was 17(77.3%), history of psychiatric management was 6(27%). 3) Characteristics of abuse：Physical abuse was 18(81.8%), physical and emotional abuse and neglect were 4(18.2%). according to onset of abuse, before 3 years was 15(54.5%), 3-6 years was 5(27.5%), schooler was 1(15%). Only father offender was 2(19%), only mother offender was 8(35.4%), both offender was 8(35.4%), accompaning with spouse abuse was 7(27%), and accompaning with other sibling abuse was 4(18.2%). 4) General characteristics and developmental history of victims：Unwanted baby was 12(54.5%), developmental delay before abuse was9(41%), comorbid developmental disorder was 15(68%). there were 6(27.5%) who didn‘t show definite sign of developmental delay before abuse. 5) Main diagnosis and comorbid diagnosis：According to main diagnosis, conduct disorder 6(27.3%), borderline child 5(23%), depression4(18%), attention deficit hyperactivity disorder(ADHD) 4(18%), pervasive developmental disorder not otherwise specified 2(9%), selective mutism 1(5%). According to comorbid diagnosis, ADHD, borderline intelligence, mental retardation, learning disorder, developmental language disorder, oppositional defiant disorder, chronic tic disorder, functional enuresis and encoporesis, anxiety disorder, dissociative disorder, personality disorder due to medical condition. 5) Course of treatment：A mean duration of admission was $2.4{\pm}1.5$ months. 11(15%) showed improvement of symtoms, however 11(50%) was not changed of symtoms.