Yoo, Sang Soo;Rhee, Min Hee;Lee, Jeongho;Lee, Dong Hwan
Journal of The Korean Society of Inherited Metabolic disease
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v.13
no.2
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pp.98-103
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2013
Purpose: MAT-I/III deficiency by MAT1A gene mutation causes isolated hypermethioninemia, which is considered to be a clinically benign disease. But in some patients, mental retardation, developmental delay, myelination disorder may be shown. This study was performed to find out the clinical manifestations and genetic characteristics of patients with isolated hypermethioninemia. Methods: Clinical, biochemical and genetic analysis were done to 10 patients with isolated hypermethioninemia who were referred to department of pediatrics, Soonchunhyang University Hospital from March 1999 to March 2012. Results: At first visit, all patients' mean plasma methionine level was 5.5 mg/dL (2.1-14.6) and there were no increase of amino acid levels including homocystine in all patients. Serum homocysteine level was evaluated in seven patients who visited after year 2003, and ranged from 4.96 to $11.15{\mu}mol/L$ (normal < $25{\mu}mol/L$). Methionine restricted diet was started to all patients. Nine patients who managed regularly showed normal development, but one patient whose initial plasma methionine level was 14.6 mg/dL showed language delay at 1 year of age and was diagnosed as mild mental retardation (IQ=66) at 6 years of age. Genetic analysis was done to eight patients, R264H mutation was identified in seven patients. Also, both R299C and R356Q mutation were identified in one patient. Conclusion: Clinical findings in patients with isolated hypermethioninemia were generally good, but one patient showed mental retardation and language difficulty. R264H mutation which usually inherits as an autosomal dominant trait was most frequently found in our patients, and R299C/R356Q mutation were also identified.
Journal of the Korean Society for Library and Information Science
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v.53
no.4
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pp.171-187
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2019
The study aims to analyze the posts of depression-related Facebook groups to understand major topics discussed by group users. Specifically, the purpose of the study is to identify the topics and keywords of the posts to understand what users discuss about depression. Depression is a mental disorder that is somewhat sensitive in the online community, which is characterized by accessibility, openness and anonymity. The researchers have implemented a natural language-based data analysis framework that includes components ranging from Facebook data collection to the automated extraction of topics. Using the framework, we collected and analyzed 885 posts created in the past one year from the largest Facebook depression group. To derive more complete and accurate topics, we combined both automated and manual (e.g., stop words removal, topic size determination) methods. Results indicate that users discuss a variety of topics including depression in general, human relations, mood and feeling, depression symptoms, suicide, medical references, family and etc.
Don DeLillo has shown considerable interest in terror, frequently depicting extreme dread of something terrible to happen, in his literary texts. Since more than three thousand innocent people in New York were killed by the 9-11 terrorist attack in 2001, the anticipation about what kind of fiction he would write as a New Yorker was high. DeLillo's novel Falling Man (2007) in fragmentary detail represents the scene of the terrorism from the perspective of Keith Neudecker, a lawyer who escapes the collapsing world trader center. Neudecker's post-traumatic stress disorder in the first chapter is followed by the free-associative portrayal of various impacts of the 9-11 terror on Neudecker's wife Lienne in the second chapter. The random mixture of the first person narratives from such diverse view-point characters as Neudecker's son Justin, relatives and friends, with dialogues and recollections yields a very close picture of the consequences of terrorism. Reading DeLillo's Falling Man in juxtaposition with a Japanese Canadian novel Obasan by Joy Kogawa, reminiscences of the maltreatment of Japanese Canadians during and after the second world war, surfaces the authorial intention of the two novels. They as trauma literature emerge to aim at curing the readers and proposing post-traumatic ethics. Laurie Vickroy's theory of trauma narrative and cure, E. Ann Kaplan's theory of trauma witness narrative and responsibility, and Emmanuel Levinas's theory of trauma memory and ethics offer theoretical grounds for the convincing analysis of the two texts.
International Journal of Computer Science & Network Security
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v.22
no.11
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pp.157-162
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2022
Cerebral palsy is one of the most serious forms of disorders of the psychophysical development of children, which manifests itself in disturbances of motor functions, which are often combined with speech disorders, other complications of the formation of higher mental functions, and often with a decrease in intelligence. The article will discuss the speech disorder in children with cerebral palsy. Emphasis is placed on some important aspects, which should bear in mind, investigating the problem of specifics of speech development of children with cerebral palsy. In particular at the heart of speech disorders in the cerebral palsy is not only damage to certain structures of the brain, but also the later formation or underdevelopment of those parts of the cerebral cortex, which are of major importance in linguistic and mental activity. This is an ontogenetically young region of the cerebral cortex, which is most rapidly developing after birth (premotor, frontal, temmono-temporal). It is important to take into account, that children with cerebral palsy have disturbances of phonemic perception. Often, children do not distinguish between hearing sounds, cannot repeat component rows, allocate sounds in words. At dysarthria, there are violations of pronunciation of vowel and consonant sounds, tempo of speech, modulation of voice, breathing, phonation, as well as asynchronous breathing, alignment and articulation. As a result, we identified the main features and specifics of the speech development of children with cerebral palsy and described the conditions necessary for the full development of language. Language disturbances in children's cerebral palsy depend on the localization and severity of brain damage. Great importance in the mechanism of speech disorders has a pathology that limits the ability of movement and knowledge of the world.
Journal of the Korean Academy of Child and Adolescent Psychiatry
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v.16
no.2
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pp.239-250
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2005
Objective : The purpose of this study was obtaining data on the efficacy and safety of risperidone in child and adolescent psychiatric patients. Method : Thirty one children and adolescents (males n=18, females n=13, age ranged from 5.4 to 17.3 years) treated with risperidone were selected among child and adolescent psychiatric inpatients of Seoul National University Hospital from January, 2001 to June, 2002, and charts for them were reviewed retrospectively. Results : The primary psychiatric disorders treated with risperidone were schizophrenia and other psychosis, bipolar I disorder with psychotic features, Tourette's disorder, autism spectrum disorders, mixed receptive and expressive language disorder, attention deficit-hyperactivity disorder, conduct disorder and obsessive-compulsive disorder. twelve of these had comorbid mental retardation. Primary target symptoms of risperidone were psychotic symptoms (n=13 or $41.9\%$), behavioral symptoms (n=10 or $32.3\%$) including aggression, impulsivity, hyperactivity, stereotypy nonresponsive to other psychiatric treatments, and chronic and severe tics (n=8, $25.8\%$). The efficacy of risperidone was measured by clinical global improvement (CGI) for target symptoms, $67.7\%$ of subjects showed moderate or marked improvements and its therapeutic effect appeared to be maintained during at least 7.5 months. Mean daily dosage of risperidone was $0.05{\pm}0.01mg/kg$, the group with psychotic symptoms had significantly higher mean daily dosage (0.07mg/kg) compared with other two groups (0.04mg/kg) with behavioral symptoms or tics. A variety of adverse events were reported in this study : weight gain (n=23) most commonly reported, extrapyramidal symptoms (n=15), autonomic symptoms (n=6), sedation (n=5) and symptoms related to hyperprolactinemia (n=2) etc. Although there was no drug change related to the adverse events of risperidone, and $90\%$ of subjects at their last visits were maintained on it, thus its tolerability appeared good. Conclusions Results suggest that risperidone may be relatively safe and effective drug in managing a wide variety of child and adolescent psychopathologies such as psychotic symptoms, behavioral symptoms including aggression, impulsivity, hyperactivity and stereotypy nonresponsive to other psychiatric treatments, and chronic and severe tics. Controlled and long-term studies of efficacy and safety of risperidone treatment for children and adolescents are recommended in the future.
Journal of the Korean Academy of Child and Adolescent Psychiatry
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v.1
no.1
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pp.27-39
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1990
The neural mechanisms involved in attention deficit hyperactivity disorder are largely unknown. In order to investigate the neuroanatomical lesions of attention deficit hyperactivity disorders and their relationships with psychopathology, Single Photon Emission Computed Tomography(SPECT) using HMPAO was performed in 46 ADHDS and Yale Children's Inventory(YCI), Conners Parent Questionaire and DSM-III-R Questionaire for Disruptive Behavior Disorder were used to assess the psychopathology of ADHDS The results are summarized as follows; 1) 30.4% (14/46) of this series revealed decreased perfusion In SPECT. 2) Regions of hypoperfusion were seen in cerebral cortex(17.4%, 8/46), thalamus(13.0%, 6/46), deep gray matter(8.7%, 4/46), basal ganglia(6.5%, 3/46) and cerebellum(2.2%, 1/ 46). 3) The mean scores of the total YCI revealed significant difference between the two groups(SPECT abnormal versus normal group), and among the subscales, hyperactivity, language and fine-motor subscales showed significant differences between the two groups. Although the relationship between the abnormal findings and specific symptom clusters of ADHDS remains unclear, we can suggest that these abnormal findings could be associated with ADHD, and based on these findings, the ADHDS can be subclassified into two groups. This study can be said to reinforce the current conception of heterogeneity of ADHD.
Objective: The purpose of this study was to investigate the effects of the Power Card strategy on the receptive vocabulary and expressive vocabulary in children with autism spectrum disorders. Method: Three children with autism spectrum disorder were selected for this study and the power card strategy language intervention was applied, using a multiple baseline design across individuals. The target vocabulary was selected by examining the individual preferred characters. Power cards were constructed, and intervention was applied to improve the receptive vocabulary and expressive vocabulary through the baseline stage, intervention, and maintenance. Result: The application of the power card strategy showed that the acquisition rate of receptive vocabulary in children with autism spectrum disorder was increased, and expressive vocabulary acquisition rate was also improved. Conclusion: During the intervention period using the power card strategy, the children's target receptive vocabulary and expressive vocabulary acquisition rates improved, and the acquisition rate was maintained, even after the intervention. This suggests that the power card strategy is effective in improving the vocabulary of autistic children with disabilities, of school age.
The purpose of this case study was to construct a social context-based musical play program for children with high-functioning Autism Spectrum disorder (ASD) and to examine its applicability in improving the social skills of the children. The participants were a group of three children with high-functioning ASD with an average age of 9 years. The children participated as a group in 40-minute sessions that were implemented twice a week for 8 weeks. The children's social communication behaviors were observed during the sessions and analyzed in terms of sharing and exchanging their ideas and voluntarily interacting with peers and an adult (i.e., the researcher). The Social Skills Rating System (SSRS) was completed by the teachers of participants before and after the intervention. For all three participants, the occurrence of behaviors to exchange their ideas with peers and voluntarily interacting with an adult increased following the intervention. However, there were individual differences between the participants in terms of changes in each target behavior depending on their level of language and social skill development. These results suggest that social context-based musical play program may produce positive changes in voluntary communication with peers and play a significant role in expanding the scope of interventions that target the social communication of children with ASD.
Purpose : To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. Methods : From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. Results : Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9 %) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and new-born screening tests. Conclusion : Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.
The Journal of Korean Academy of Sensory Integration
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v.1
no.1
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pp.61-72
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2003
The suck/swallow/breathe(SSB) synchrony, serving as the earlist primary motor mechanism, is the rhythmical, coordinated pattern of sucking, swallowing and breathing. The development of an intact SSB is an important precursor for further sensorimotor and cognitive development including speech and language development, state regulation, postural control, feeding, eye/hand coordination and social/emotional development. Arousal means a neurological mechanism for preparing one's body to orienting stimulus. Its levels are regulated with an interaction of the reticular formation, the limbic system, the hypothalamus and the autonomic nervous system. General strategies such as blowing, sucking, chewing, munching and licking to effectively modulate arousal state are related to SSB. The SSB synchrony is an important treatment principle for children with sensory integration disorder and problems with the modulation of arousal. The purpose of this article is to review concepts of SSB synchrony and the underlying relation between the modulation of arousal and SSB synchrony.
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