• Journal of Genetic Medicine
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• v.16 no.2
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• pp.71-75
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• 2019

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat-Wilson syndrome (MWS) typically present with facial gestalt, complex neurologic problems (e.g., severe developmental delay with marked speech impairment and epilepsy), and multiple anomalies (e.g., Hirschsprung disease, urogenital anomalies, congenital heart defects, eye anomalies, and agenesis of the corpus callosum [CC]). MWS is mostly caused by haploinsufficiency of the gene encoding zinc-finger E-box-binding homeobox 2 (ZEB2) due to premature stops or large deletions. We present a case report of a 9-year-old girl with PNH, drug-responsive epilepsy, severe intellectual disability, and facial dysmorphisms only in whom we performed whole-exome sequencing and found a de novo heterozygous missense mutation (c.3134A>C; p.His1045Pro) of ZEB2 (NM_014795.3; NP_055610.1). This mild case of MWS caused by a rare novel missense mutation of ZEB2 represents the first report of MWS with isolated PNH.

• Journal of Fisheries and Marine Sciences Education
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• v.28 no.3
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• pp.818-830
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• 2016

The purpose of this study is to examine the effects of the parents listening guidance program, which allows the parents to understand their hearing impaired children and how to listen at home, on the communication skills of the hearing impaired children. The research subjects were 3 hearing impaired children who did not accompany with the intellectual, emotional and behabioral problems, and the listening guidance has been performed for their parents for 3 months through the listening guidance program. The changes in the communication skills in the hearing impaired children were observed comparing before and after the education. In the results, first, the receptive language skill of the hearing impaired children was improved after than before the parents listening guidance. Second, the expressive language skill of the hearing impaired children was improved after than before the parents listening guidance, too. Third, in the communication behavior of the hearing impaired children, the phonation and the speech production were increased together with the gesture after the parents listening guidance. In conclusion, it is deemed that the parents listening guidance program would have positive influence on the communication behavior of the hearing impaired children.

• Journal of Korean Academy of Fundamentals of Nursing
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• v.10 no.3
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• pp.326-334
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• 2003

Purpose: The purpose of this study was to identify characteristics associated with fractures in elderly people in order to provide basic data for fracture preventive programs for the elderly people. Method: The participants were 84 patients over age of 65, who were admitted to the orthopedic department in a hospital in Chungnam province. Data were collected from Sep. 1, 2002 to Aug, 30, 2003 through personal interviews using a structured questionnaire. The data were analyzed using SPSSPC program. Result: Physical characteristics before the fracture included weakness or paralysis in the extremities (29.8%), need of assistance or appliances (13.1%), difficulty on balance (28.6%), visual disturbances (26.2%), hearing impairment (17.9%), speech disturbances (2.4%), urinary dysfunction (21.4%), and sleep disturbances (54.8%). The fractures occurred most frequently in winter (32.1%), between 1 pm and 6 pm (48.8%), on weekends (41.6%), in the road (58.3%) while wearing snickers (27.4%) or shoes (27.4%). The region of fractures occurred most frequently was lower extremities (57.1%), and the causes of fractures were loss of balance (31.0%) and car accident (25.0 %). A significance difference was found for type of accident, footwear at the time of the accident, place of the accident according to gender and age. Also a significance difference was found for type of accident and place of accident according to season(p<.05). Conclusion: Therefore, these results should be considered when a fracture preventive program for elderly people is designed.

• The Journal of the Acoustical Society of Korea
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• v.15 no.2
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• pp.55-60
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• 1996

This paper describes the subjective assessment of the multi-channel audio quality according to the bitrate changing and evaluates the predistortion effect to avoid the unmasked noise after matrixing/dematrxing process in transmission and regeneration of the multi-channel audio. The simulation is processed by the perceptual coding that is MPEG-2 Audio layer II algorithm. We evaluate the quality improvement about predistortion using or not by 384, 320, 256, 128kbps. As the result of the double blind subjective assessment, 5 Grade-Impairment Scale is scored under minus one to 320kbps and so audio quality is evaluated to be perceptible, but not annoying in 3/2 channel. The effect of the predistortion is improved one level in 128kbps and especially speech test material I better improved than music test materials.

• 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.

• Journal of Oriental Neuropsychiatry
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• v.19 no.1
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• pp.97-105
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• 2008

Objective : The objective of this study is to investigate the intellectual characteristics of the specific language impairment(SLI) and the borderline intelligence-language disorder (BI-LD). Method : 30 Children participated in this study, IS children with SLI(K-WISC-ill FIQ above 85, Test of Problem Solving score below -1.25SD, verbal comprehension factor index of K-WISC III below 80), 14 children with BI-LD(K-WISC-ill FIQ $70^{\sim}85$, Test of Problem Solving score below -1.25SD, verbal comprehension factor index of K-WISC III below 80). All students were evaluated with K-WISC III, Test of Problem Solving. full-scale IQ (FSIQ), \ verbal intelligence quotient (VIQ), Verbal Comprehension Index, and Test of Problem Solving score were compared between two groups. Result : All subtests scores of PIQ in the SLI were significantly higher than those in the BI-LD. there was no significant difference in the subtests scores of VIQ. In the VIQ subtests, Information, Arithmetic, Comprehension score were higher in the SLI compared to the BI-LD, but the score of Similarities and Vocabulary were similar between two groups. Conclusion: These results suggest that inspite of the difference of PIQ, SLI and BI-LD have similar language abilities, and there are some different intellectual characteristics between SLI and BI-LD

• Journal of Korean Academy of Medicine & Therapy Science
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• v.10 no.2
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• pp.39-45
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• 2018

Objective: The aimes of this study is to analyze the effects of presbycusis on the quality of life. Method: 47-elderly were participated. The participants were divided into the suspected hearing impaired group (N=18) and the within normal limits (WNL) group (N=29). One-way ANOVA was performed to determine the association between the HHIE and WHOQOL-BREF scores by age group, and independent t-test was carried out to analyze the inter-group relations. Results: The scores in WHOQOL-BREF differed significantly by age group (p=.011): people in their sixties scored $3.7{\pm}.62$, those in their seventies $3.3{\pm}.56$, and those in their eighties $2.8{\pm}.60$, with significant differences observed. There were statistically significant inter-group differences (p=.000), with significant differences observed. Conclusion: The quality of life of the elderly were lowered depending on age and hearing impairment.

• Journal of Biomedical Engineering Research
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• v.19 no.6
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• pp.623-629
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• 1998

To provide sufficient sound to the hearing-impaired person(HIP) who have many difficulty in communication with others using general telephone, big amplification is needed. But big amplification can occur howling as a side effect. In this study we developed the new technique of big amplification without howling, manufactured and estimated the new hearing aid telephone. Telephone speech is divided to three frequency band, amplified respectively and fitted to HIP's hearing ability. The telephone speech frequency is monitored by counter in time domain. The counter transfers the sinusoidal sound to rectangular wave using comparator and counts the number of rectangular wave in a certain time period, that is frequency, to monitor the howling. Telephone have microphone and speaker, which are fitted in a rigid structure and frequency band of telephone sound is limited, so howling occurs in the limited frequency band. If the counter notices that howling conditions happen, microprocessor decreases quickly the gain of the related frequency band. The result of test of our new hearing aid telephone showed that we can amplifiy the sound as much as 40dB, which is meaningful level to many HIP, and make HIP increase their perception ability from 20% to 60.8% in 1 syllable test and from 28.9% to 78% in 2 syllable test.

• Journal of Digital Convergence
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• v.15 no.4
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• pp.469-476
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• 2017

Mini-Mental State Examination (MMSE) and naming tests have been used clinically as screening and diagnostic tools for mild cognitive impairment and dementia. Researches in other countries have reported that residential areas would affect one's cognitive abilities. In Korean, however, there was no systematic studies on geographical influences to cognitive ability among a sample of urban/rural residents. The aim of this study was to investigate the effect of urban/rural locality of residence on cognitive tests in normal elderly Korean. Residents aged 65 years and older (N=108) were administered the K-MMSE, confrontation/generative naming tests, and medical/socio-demographic interview. When comparing the total number of correct responses between urban residents and rural residents, the performances of rural group were significantly worse than those of the urban group in K-MMSE. Based on the results, our finding suggests that a factor of residential locality should be considered to examine the function and explain the cognitive decline in rural community-dwelling elders.

• Korean Journal of Psychosomatic Medicine
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• v.29 no.2
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• pp.207-212
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• 2021

Anti-N-methyl-D-aspartate receptor (Anti-NMDAR) encephalitis is a neuroinflammatory disease mediated by autoantibodies to NMDAR. In the initial clinical stages of anti-NMDAR encephalitis, psychiatric symptoms like delusions, perceptual disturbances, and disorganized speech or behaviors are pronounced even without obvious neurological symptoms. Early treatments like immunotherapy and/or tumor removal are central to good clinical outcomes. Hence, it is important to diagnose early anti-NMDAR encephalitis, distinguishing it from mental disorder. In the present case study, the authors described psychiatric symptoms assessed with Positive and Negative Syndrome Scale (PANSS) of Ms. A, a 26-year-old woman, in the early phase of anti-NMDAR encephalitis. We will discuss the characteristic psychopathology of anti-NMDAR encephalitis toward prompt diagnosis and treatment. Ms. A showed a higher negative subscale score than positive one on the PANSS. Compared with mental disorder, negative symptoms and cognitive impairment would be more prominent in the early stage of anti-NMDAR encephalitis. Rituximab and teratoma removal were effective, and quetiapine showed good tolerability. It is recommended to evaluate anti-NMDAR encephalitis when negative symptoms, cognitive impairment, catatonia, changes in consciousness level, and neurological symptoms are observed, especially in young women.