• Phonetics and Speech Sciences
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• v.8 no.2
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• pp.65-71
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• 2016

The purpose of this study is to examine the prosodic pattern of the children with high functioning autism spectrum disorder(HFASD) according to sentence type. The participants were 18 children aged from 7 - 9 years; 9 children with HFASD and 9 typical development children(TD) of the same chronological age with HFASD children. Sentence reading tasks were conducted in this study. Seven interrogative sentences and 7 declarative sentences were presented to the participants and were asked to read the sentences three times. Mean values of F0, F0 range, intensity, speech rate and pitch contour were measured for each sentence. The results showed that for F0 range, significant main effect and interaction effect were observed in the subject group and sentence type. There were significant differences in intensity, mean F0, speech rate, pitch contour across sentence types. The results of this study indicated that HFASD showed no difference in intonation across sentence types. Speakers' intention may have a negative effect on pragmatic aspects. These results suggest that the assessment and intervention of prosody be important for HFASD.

• Anxiety and mood
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• v.8 no.1
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• pp.3-8
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• 2012

Patients with panic disoder (PD) show recollection of their first panic attack, which resembles a trauma that is perceived as an unexpected frightening and subjectively life-threatening event. Information-processing models suggest that anxiety disorders may be characterized by a memory bias for threat-related information. This paper reviews the previous researches that investigated the implicit and/or explicit biases in patients with panic disorder. Among the 17 studies, which addressed the explicit memory bias in PD patients, 11 (64.7%) were found to be explicit memory bias in PD patients. In regards to the implicit memory bias, 4 out of 9 studies (44.4%) were found to support the memory bias. The result shows that evidence of explicit memory bias in PD patients was supported by a number of previous researches. However, evidence of implicit memory bias seems less robust, thus, needs further research for replication. Also, development of new paradigms and applications of various methods will be needed in further researches on memory bias in PD patients.

• Journal of Society of Preventive Korean Medicine
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• v.22 no.3
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• pp.83-89
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• 2018

Objectives : The aim of this study was to investigate expert opinions on the questions contained in a questionnaire for diagnosing blood stasis accompanying metabolic disorders. Methods : Two rounds of Delphi survey were conducted online targeting on one hundred Korean medicine doctors. Respondents rated the appropriateness of the 30 questions in diagnosing metabolic disorder on a five-point scale, anchored at '5 = very appropriate', '4 = appropriate', '3 = somewhat appropriate', '2 = inappropriate', and '1 = very inappropriate'. Results : The mean score on 30 questions of first and second Delphi survey was 3.26 points and 3.31 points, respectively. The ranking of the top 10 questions that were rated as appropriate for diagnosing blood stasis accompanying metabolic disorder were 'sublingual varices', 'reddish black tongue', 'reddish black gum', 'reddish black lips', ''dark purple palatal mucosa and venous edema', 'night pain, 'ecchymosis of the tongue', 'piercing pain', 'ecchymosis of the skin' and 'prolonged numbness'. Conclusions : The experts agreed that three of the most typical symptoms of blood stasis and the conditions of capillary vessels in the tongue or the oral cavity were highly associated with metabolic disorder, whereas the questions related to abdominal pain lacked an association with metabolic disorders.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.32 no.3
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• pp.85-92
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• 2021

Attention-deficit/hyperactivity disorder (ADHD) leads to functional decline in academic performance, interpersonal relationships, and development in school-aged children. Early diagnosis and appropriate intervention can significantly reduce the functional decline caused by ADHD. Currently, there is no established biological marker for ADHD. Some studies have suggested that various indicators from the quantitative electroencephalogram (QEEG) may be useful biological markers for the diagnosis of ADHD. Until the 2010s, theta/beta ratio (TBR) was a biomarker candidate for ADHD that consistently showed high diagnostic value. However, limitations of TBR have recently been reported. Studies have demonstrated that phase-amplitude coupling, especially theta phase-gamma amplitude coupling, are related to cognitive dysfunction and may assist in the diagnosis of ADHD. As yet, the underlying mechanism is not clearly established, and the clinical efficacy of these biomarkers needs to be proven through well-controlled studies. Based on the heterogeneous characteristics of ADHD, subgrouping through QEEG plays a key role in diagnosis and treatment planning. Sophisticated, well-designed studies and meta-analyses are necessary to confirm these findings.

• Journal of the Korean Society of Food Culture
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• v.36 no.1
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• pp.40-55
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• 2021

The purpose of this study was to provide basic information on the development of nutrition education programs to improve the mealtime behavior of children with autism spectrum disorder (ASD) by investigating the mealtime behavior and food preferences of children with ASD through the perception of special education teachers. Surveys were given to 108 special education teachers in special education schools in Korea regarding the demographic characteristics, nutrition education support needs, mealtime behavior, and food preferences of children with ASD. Most of the special education teachers responded that nutrition education in special schools had not been conducted properly and nutrition education for ASD children is necessary. Mealtime behavior analysis classified the behavior into three clusters: cluster 1, 'less problematic mealtime behavior'; cluster 2, 'general feature of autism'; cluster 3, 'difficulty in self-directed diet'. The age, eating habits, and food preferences were different according to each mealtime behavior cluster. Therefore, it will be necessary to develop a nutrition education program based on the characteristics of mealtime behavior.

• Clinical and Experimental Pediatrics
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• v.65 no.3
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• pp.131-135
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• 2022

Purpose: There is inconsistent evidence about the association between fetal nuchal cord and the risk of autism spectrum disorder (ASD). We performed a meta-analysis to investigate whether fetal nuchal cord is associated with an increased risk of ASD in offspring. Methods: Three main English databases were searched until January 2021. The Newcastle-Ottawa Scale was used to assess study quality. Study heterogeneity was determined using the I 2 statistic, while publication bias was assessed using Begg and Egger tests. Results are presented as odds ratios (ORs) and relative ratios with 95% confidence intervals (CI) and were determined by a random-effects model. Results: Five articles (1 cohort, 4 case-control; 3,088 total children) were included in the present meta-analysis. Fetal nuchal cord was not a risk factor for ASD (OR, 1.11; 95% CI, 0.66-1.57). There was homogeneity among studies that reported a risk of ASD (I²=0.0%). Conclusion: Our results showed that fetal nuchal cord is not a risk factor for ASD. Future large cohort studies should confirm this finding.

• 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.

• Korean Journal of Food Science and Technology
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• v.36 no.2
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• pp.283-287
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• 2004

Persimmons suffer from such physiological disorders as flesh softening, peel blackening, and flesh browning, which occur rapidly particularly when exposed to ambient temperature after storage at low temperature, In this study causes of these disorders were examined in terms of respiration and ethylene production of the fruits. Jelly-like flesh softening, considered as symptom of chilling injury, rapidly developed within 3 days of exposure to ambient temperature without modified atmosphere (MA) packaging after low temperature storage. Disorder development was more suppressed at $30^{\circ}C$ than at $20^{\circ}C$; such temperature dependence is closely connected to ethylene production rate of fruits at both temperatures. Inhibition of ethylene production through MA packaging effectively reduced disorder development, which indicates ethylene production is closely related to jelly-like flesh softening disorder. Development of black-staining on peels occurs in fruits exposed directly to ambient temperature, but not in those packaged with thick PE-film. Flesh browning developed only under anaerobic respiration condition of high temperature and MA packaging with thick PE film, and occurred at quick reduction of available oxygen inside MA package at high temperature.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.19-22
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• 2016

Purpose: Mucolipidosis type II (ML II), also known as I-cell disease is an autosomal recessive inherited disorder of lysosomal enzyme transport caused by a deficiency of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase). Clinical manifestations are skeletal abnormalities, mental retardation, cardiac disease, and respiratory complications. A severely and rapidity progressive clinical course leads to death before 10 years of age. Methods/Results: In this study we diagnosed three cases of prenatal ML II in two different at-risk families. We compared two procedures -biochemical analysis and molecular analysis - for the prenatal diagnosis of ML II. Both methods require an invasive procedure to obtain specimens for the diagnosis. Biochemical analysis requires obtaining cell cultures from amniotic fluid for more than two weeks, and would result in a late diagnosis at 19 to 22 weeks of gestation. Molecular genetic testing by direct sequence analysis is usually possible when mutations are confirmed in the proband. Molecular analysis has an advantage in that it can be performed during the first-trimester. Conclusion: Molecular diagnosis is a preferable method when a prompt decision is necessary.

• Journal of Genetic Medicine
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• v.13 no.2
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• pp.78-88
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• 2016

Purpose: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. Materials and Methods:SRY-negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. Results: Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. The SRY gene was confirmed to be absent in three of these 19 cases (15.8%). Conclusion: We report three rare cases of SRY-negative 46,XX testicular disorders of sex development. Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY.