• Title/Summary/Keyword: language disorder

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Identification of Potocki-Lupski syndrome in patients with developmental delay and growth failure

  • Jun, Sujin;Lee, Yena;Oh, Arum;Kim, Gu-Hwan;Seo, Eulju;Lee, Beom Hee;Choi, Jin-Ho;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.16 no.2
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    • pp.49-54
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    • 2019
  • Purpose: Potocki-Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in some patients. PTLS is associated with microduplication at chromosome 17p11.2. In the current study, three Korean patients are reported with their clinical and genetic features. Materials and Methods: The clinical findings of each patient were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were done for genetic diagnoses. Results: All the patients did not have the characteristic dysmorphic features, such as broad forehead, triangular face, asymmetric smile and palpebral fissures. On the other hand, all three patients were affected by variable degree of developmental delay, poor oral intake, failure to thrive, and language development disorders. Chromosome 17p11.2 duplication was identified by conventional karyotyping analysis only in one patient, whereas the other confirmed by MLPA analyses. Conclusion: Delayed development was mostly commonly observed in our patients without distinct dysmorphic facial features. In this respect, genomic screening in patients with developmental delay would identify more cases with PTLS to understand their long-term clinical courses with the development of adequate psychological and rehabilitation education program.

Research clinical trends on Gigong(氣功, Qigong) in the Korean Journal (한국(韓國) 저널에 게재(揭載)된 기공관련(氣功關聯) 임상(臨床) 연구(硏究) 동향(動向) 분석(分析) )

  • Han, Chang-Hyun;Lee, Sang-Nam;Kwon, Young-Kyu;Ahn, Sang-Woo;Choi, Sun-Mi
    • Journal of Korean Medical classics
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    • v.21 no.3
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    • pp.297-306
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    • 2008
  • Background : Gigong(氣功, Qigong) is one energy-healing intervention used to prevent and cure ailments and to improve health through regular practice. Although Gigong(氣功, Qigong) - neither itself nor its postulated mechanism of action - are within the paradigm of modern Western medical science, effects on the human body could be possible. Objectives : This study aims to review the bibliography, biological responses and therapeutic effects of Gigong. In the process, this review will grasp trends in this field of studies and will direct further researches into the right direction. Method : The computerized Korean databases were searched from their respective inceptions up to January 2008. The search terms used were 'Gi(氣, Qi)', 'Gigong(氣功, Qigong)', 'Doin(導引)', 'Training', 'Bioenergy', 'life nurturing' and random or Korean language terms related to Gigong. Several specialized journals were also manually searched for relevant articles. Result : Since the 1990's, Gigong papers in the Korean Literature is increased. Clinical research studies are among the most control design study. Research subjects are less patient than the general public. The most common treatment disease was Musculo-skeletal disorder Conclusions : The depth study for the each Gigong(氣功, Qigong) is needed. Specifically, I think it should be a clinical studies and qualitative research methods for evaluation are needed.

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Articulation error of children with adenoid hypertrophy

  • Eom, Tae-Hoon;Jang, Eun-Sil;Kim, Young-Hoon;Chung, Seung-Yun;Lee, In-Goo
    • Clinical and Experimental Pediatrics
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    • v.57 no.7
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    • pp.323-328
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    • 2014
  • Purpose: Adenoid hypertrophy is a physical alteration that may affect speech, and a speech disorder can have other negative effects on a child's life. Airway obstruction leads to constricted oral breathing and causes postural alterations of several oro-facial structures, including the mouth, tongue, and hyoid bone. The postural modifications may affect several aspects of speech production. Methods: In this study, we compared articulation errors in 19 children with adenoid hypertrophy (subject group) to those of 33 children with functional articulation disorders independent of anatomical problems (control group). Results: The mean age of the subject group was significantly higher (P=0.016). Substitution was more frequent in the subject group (P=0.003; odds ratio [OR], 1.80; 95% confidence interval [CI], 1.23- 2.62), while omission was less frequent (P<0.001; OR, 0.43; 95% CI, 0.27-0.67). Articulation errors were significantly less frequent in the palatal affricative in the subject group (P=0.047; OR, 0.25; 95% CI, 0.07-0.92). The number of articulation errors in other consonants was not different between the two groups. Nasalization and aspiration were significantly more frequent in the subject group (P=0.007 and 0.014; OR, 14.77 and 0.014; 95% CI, [1.62-135.04] and NA, respectively). Otherwise, there were no differences between the two groups. Conclusion: We identified the characteristics of articulation errors in children with adenoid hypertrophy, but our data did not show the relationship between adenoid hypertrophy and oral motor function that has been observed in previous studies. The association between adenoid hypertrophy and oral motor function remains doubtful.

Benefit of chuna for managing symptoms in chronic fatigue syndrome patients: A systematic review and meta-analysis (만성피로증후군의 증상관리를 위한 추나요법의 유용성: 체계적인 문헌고찰과 메타분석)

  • Song, Jeongyun;Kim, Junyeol;Nam, Donghyun
    • The Journal of Korean Medicine
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    • v.41 no.3
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    • pp.205-220
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    • 2020
  • Objectives: The aim of this review is to assess the clinical benefit of chuna for managing symptoms in chronic fatigue syndrome (CFS) Methods: We searched eligible studies from the following 11 databases with no language restriction: Pubmed, CENTRAL, Embase, CNKI, CQVIP, Wanfang, CiNii, OASIS, RISS and Koreamed. We selected randomized controlled trial (RCT), quasi-randomized controlled trial (Quasi-RCT) and controlled clinical trial (CCT) in which patients with chronic fatigue syndrome were treated with chuna. The results of the included studies were synthesized through meta-analysis, and their risk of bias were also assessed. Results: We searched 914 potentially relevant studies, and only 20 studies were selected for this systematic review. Meta-analysis showed that chuna was more effective in improving general symptoms (n=291, RR 0.19 [95% CI 0.11 to 0.32], Z=6.08, p<0.00001, I2=0%), fatigue (n=487, SMD -0.95 [95% CI -1.19 to -0.71], Z=7.76, p<0.00001, I2=37%) and sleep disorder (n=139, SMD -0.58 [95% CI -0.92 to -0.24], Z=3.36, p=0.0008, I2=0%) compared to health supplements or usual care. When chuna was used as an added intervention, it was more effective in improving general symptoms(n=729, RR 0.25 [95% CI 0.15 to 0.42], Z=5.19, p<0.00001, I2=0%) and fatigue severity alone(n=217, SMD -1.21 [95% CI -1.53 to -0.89], Z=7.45, p<0.00001, I2=15%) compared to control. Conclusion: We found that chuna was beneficial for improving severity of general symptoms and fatigue at post treatment in CFS patients.

Voice Change Associated with Swallowing Disorder Caused by a Stroke After Neuromuscular Electrical Stimulation (뇌졸중으로 인한 삼킴장애 환자의 경부근육전기자극치료에 따른 음성 변화)

  • Byeon, Hae-Won
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.13 no.4
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    • pp.1665-1671
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    • 2012
  • The purpose of this study was to look into changes in voice using acoustic analysis during the process of neuromuscular electrical stimulation targeting dysphagia treatment. Fifteen man with dysphagia caused by stroke was treated neuromuscular electrical stimulation for two months and intensity of voice, $F_0$, Jitter, Shimmer, NNE were measured. The results of this study that improvement in functions of dysphagia and Jitter, Shimmer were stabilized. But there was not significantly changes of $F_0$. NNE was improved after the intervention, but still showed abnormal levels. This result suggests a possibility of effects that Neuromuscular electrical stimulation has on stabilization of Jitter, Shimmer and intensity of voice.

Acoustic Characteristics of Korean Spoken by the Women Immigrants from Japan and Philippine (여성 결혼이민자들의 한국어 조음에 나타나는 음향음성학 특성 연구 - 일본과 필리핀 출신 여성 결혼이민자들을 대상으로)

  • Jo, Seon-Hui;Kim, Hyun-Gi;Kim, Sun-Jun
    • Speech Sciences
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    • v.15 no.3
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    • pp.203-217
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    • 2008
  • The number of Asian women immigrants in Korea is getting bigger and it's important to note that their communication problem in Korean causes not only the difficulty of adapting to Korean society but their children's speech-language disorder. To date there is little research on their acoustics characters and articulatory errors. Therefore, this study focuses on acoustic characters and articulatory error patterns of the women immigrants from Japan and Philippine based on the theory of "contrastive analysis". The subjects were 16 Japanese women immigrants(age: 42.5$\pm$4.4) and 14 Philippine women immigrants(age: 31.64$\pm$6.7) and control group consisted of 10 Korean women(age: 28.3$\pm$1.2). Speech and hearing of all subjects and control group were within normal limits. Speech samples were analyzed in a computer using CSL and data analysis was done on FFT widow for F1, F2, F3 of vowels and on wideband spectrogram for VOT of plosives and africatives. The results of this study were like this; For Japanese women immigrants, they had different articulatory patterns of /e/, /a/, /u/, /o/, /$\varepsilon$/, /m/ from those of Koreans and showed articulatory errors on the fortis and aspirated sounds. The reason is Japanese has only two distinctive characters for plosives and affricates; voicing and voiceless. The Philippine women immigrants also showed the same error patterns as the Japanese women immigrants. Especially the errors on aspirated sounds were prominent because their mother tongue has no distinctive characters about aspirated sounds. For vowels, they showed errors of /a/, /o/, /c/.

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Coda Sounds Acquisition at Word Medial Position in Three and Four Year Old Children's Spontaneous Speech (자발화에 나타난 3-4세 아동의 어중종성 습득)

  • Woo, Hyekyeong;Kim, Soojin
    • Phonetics and Speech Sciences
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    • v.5 no.3
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    • pp.73-81
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    • 2013
  • Coda in the word-medial position plays an important role in acquisition of our speech. Accuracy of the coda in the word-medial position is important as a diagnostic indicator since it has a close relationship with degrees of disorder. Coda in the word-medial position only appears in condition of connecting two vowels and the sequence causes diverse phonological processes to happen. The coda in the word-medial position differs in production difficulty by the initial sound in the sequence. Accordingly, this study aims to examine the tendency of producing a coda in the word-medial position with consideration of an optional phonological process in spontaneous speech of three and four year old children. Data was collected from 24 children (four groups by age) without speech and language delay. The results of the study are as follows: 1) Sonorant coda in the word-medial position showed a high production frequency in manner of articulation, and alveolar in place of articulation. When the coda in the word-medial position is connected to an initial sound in the same place of articulation, it revealed a high frequency of production. 2) The coda in word-medial position followed by an initial alveolar stop revealed a high error rate. Error patterns showed regressive assimilation predominantly. 3) The order of difficulty that Children had producing codas in the word-medial position was $/k^{\neg}/$, $/p^{\neg}/$, /m/, /n/, /ŋ/ and /l/. Those results suggest that in targeting coda in the word-medial position for evaluation, we should consider optional phonological process as well as the following initial sound. Further studies would be necessary which codas in the word-medial position will be used for therapeutic purpose.

Differential Diagnosis of Acute Liver Failure in Children: A Systematic Review

  • Berardi, Giuliana;Tuckfield, Lynnia;DelVecchio, Michael T.;Aronoff, Stephen
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.23 no.6
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    • pp.501-510
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    • 2020
  • Purpose: To develop a probability-based differential diagnosis for pediatric acute liver failure (PALF) based on age and socioeconomic status of the country of origin. Methods: Comprehensive literature search using PubMed, EMBASE, and SCOPUS databases was performed. Children 0-22 years of age who met PALF registry criteria were included. Articles included >10 children, and could not be a case report, review article, or editorial. No language filter was utilized, but an English abstract was required. Etiology of PALF, age of child, and country of origin was extracted from included articles. Results: 32 full text articles were reviewed in detail; 2,982 children were included. The top diagnosis of PALF in developed countries was acetaminophen toxicity (9.24%; 95% CredI 7.99-10.6), whereas in developing countries it was Hepatitis A (28.9%; 95% CredI 26.3-31.7). In developed countries, the leading diagnosis of PALF in children aged <1 year was metabolic disorder (17.2%; 95% CredI 10.3-25.5), whereas in developing countries it was unspecified infection (39.3%; CredI 27.6-51.8). In developed countries, the leading diagnosis in children aged >1 year was Non-A-B-C Hepatitis (8.18%; CredI 5.28-11.7), whereas in developing countries it was Hepatitis A (32.4%; CredI 28.6-36.3). Conclusion: The leading causes of PALF in children aged 0-22 years differ depending on the age and developmental status of their country of origin, suggesting that these factors must be considered in the evaluation of children with PALF.

Effects of Continuous Speech Therapy in Patients with Non-fluent Aphasia Using kMIT (kMIT를 이용한 비유창성 실어증 환자 음성 언어의 치료효과 연구)

  • Lee Ju Hee;Ko Myun Hwan;Kim Hyun Gi;Hong Ki Hwan
    • Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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    • v.16 no.2
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    • pp.158-164
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    • 2005
  • Melody intonation therepy (MIT) is to improve the linguistic aspects of the verbal utterance for aphasic patients utilizing the intact right brain. It is applied to the aphasic patients with good comprehension, poor fluency, and little available speech are thought to be ideal candidates. The purpose of the study was to investigate the effects of Korean Melody intonation therapy (kMIT) in patients with non-fluent aphasia. Five male non-fluent aphasic patients were participated in this study. Average ages were 49.9 years old. Each therapy took 45-50minutes once a week for six months. Aphasic Screen lest (RISS) was used to assess language parameter such as Auditory comprehension, oral expression, reading, writing and calculation ability before and after kMIT. Mean of Length Utterance, verbal intelligibility and articulation disorder were assessed also. Computerized Speech Lab was used to assess the acoustic characteristics of aphasic patients before and after kMIT. The results are as follows : 1) Auditory comprehension, oral expression, reading, writing and calculation ability of the subjects increased after UH'. However, only oral expression showed significant difference (p<0.05). 2) Mean of Length Utterance of five patients generally increased after Un. 3) After kMIT, verbal intelligibility increased and showed significant difference (p<0.05). 4) Misarticulation rate generally decreased after m. 5) Voice Onset Time of the alveolar lenis /t/ and velar lenis /k/ gradually decreased after kMIT. 6) However, intonation pattern were increased gradually in yes'no question after kMIT.

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RETT SYNDROME : CASE REPORT (Rett syndrome 환자의 증례보고)

  • Kong, Eun-Kyung;Hong, So-Yi;Mah, Yon-Joo;Ahn, Byung-Duk;Jung, Young-Jung
    • Journal of the korean academy of Pediatric Dentistry
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    • v.38 no.1
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    • pp.68-74
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    • 2011
  • Rett syndrome is a X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. Oral manifestations of the disease are commonly associated with the clinical conditions such as convulsion activity, difficulties for oral hygiene behavior, walking problems and oral/digitalmanual habits. Bruxism is the most frequently observed oral habit in patients with Rett syndrome. Two cases with the Rett syndrome were reported. Both patients had the typical manifestations like stereotypic hand movement, bruxism and digit-hand sucking. Caries control for the patients was perfomed under general anesthesia.