• Title/Summary/Keyword: Mental retardation

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CASE REPORT OF RUBINSTEIN-TABYI SYNDROME (Bubinstein-Tabyi syndrome에 관한 증례보고)

  • Jung, Sung-Ho;Yang, Kyu-Ho;Lee, Tae-Hee
    • Journal of the korean academy of Pediatric Dentistry
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    • v.28 no.1
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    • pp.166-170
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    • 2001
  • Rubinstein-Tabyi syndrome(RTS) is a congenital multisystem dysmorphic syndrome with many non-specific features, making diagnosis occasionally difficult. The major features of this syndrome include mental retardation, characteristic facial appearance, short stature, microcephaly, and broad thumbs and halluces. This syndrome was first described by Rubinstein and Tabyi in 1963, and many studies have been continued about this syndrome, but specific pathogenesis of the Rubinstein-Tabyi syndrome phenotype is still not clear. High arched palate, micrognathia and multiple caries etc have been reported in Rubinstein-Tabyi syndrome. In this report, a 6-year and 5-month-old boy visited at our department due to multiple dental caries, who showed broad thumbs, mental and physical development retardation, and characteristic facial appearance including both ptosis and ear deformity. This patient was diagnosed as a Rubinstein-Tabyi syndrome, and treated the multiple dental caries under general anesthesia. This study was aimed to observe the relationship between medical and dental characteristics.

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DENTAL TREATMENT FOR A PATIENT WITH WILLIAMS SYNDROME UNDER GENERAL ANESTHESIA: CASE REPORT (윌리엄스 증후군(Williams syndrome) 환자의 전신마취 하 치과치료 : 증례보고)

  • Seo, Meekyung;Song, Ji-Soo;Shin, Teo Jeon;Hyun, Hong-Keun;Kim, Jung-Wook;Jang, Ki-Taeg;Lee, Sang-Hoon;Kim, Young-Jae
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.14 no.1
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    • pp.17-21
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    • 2018
  • Williams syndrome (WS) is a rare congenital disorder which is caused by microdeletion of approximately 1.6 MBP from the long arm of chromosome 7 at 7q11.23. It is characterized by cardiovascular anomalies, elfin face and mental retardation. The most typical oral signs in patient with WS are hypodontia, reduced mesio-distal dimensions both in the primary and permanent teeth, macroglossia, excessive interdental spacing, enamel hypoplasia and enamel hypomineralization. The majority of children with WS have mild to moderate mental retardation, generalized anxiety disorder, hyperactivity disorder and sensitivity to sounds. The purpose of this presentation is to describe dental treatment for a child with WS. A 9-year-old boy diagnosed with WS had caries on his first permanent molars. Because of the poor cooperation, these teeth were filled temporarily with glass ionomer, and treatment under general anesthesia was planned. Under general anesthesia, caries treatment of first permanent molar and extraction of primary molar was successfully performed and there was no postoperative complications related to general anesthesia. Open bite, hypodontia, excessive dental space, enamel hypoplasia, enamel hypomineralization were observed which were characteristic in WS.

Cytogenetic Study and Clinical Features in Patients with Klinefelter's Syndrome and Y Chromosomal Abnormalities (Klinefelter 증후군 및 Y염색체 이상으로 진단된 환자들의 염색체 결과 및 임상 양상)

  • Moon, Shin-Yong;Choi, Seok-Tae;Ko, Hee-Jung;Oh, Sun-Kyung;Han, Jung-Ho;Suh, Chang-Suk;Kim, Seok-Hyun;Choi, Young-Min;Kim, Jung-Gu;Lee, Jin-Yong
    • Clinical and Experimental Reproductive Medicine
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    • v.26 no.1
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    • pp.43-54
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    • 1999
  • Klinefelter's syndrome is a very important disease in gynecologic endocrinologic fields, because the patients with this karyotype complain of infertility, azospermia and ambiguous genitalia. Y chromosome is an important chromosome which determine genetic sex and the structure of gonad and genitalia. In this study, to elucidate the cytogenetic characteristics and clinical features of Klinefelter's syndrome and Y chromosomal abnormalities in Korea, we studied 303 cases of Klinefelter's syndrome and 11 cases of Y chromosomal abnormalities which were diagnosed by chromosomal analysis at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 12 years from January 1984 to December 1996. The results of this study showed as follows: 1. In a total of 9275 cases, there were 303 cases (3.3%) of Klinefelter's syndromes, 11 cases (0.1%) of Y chromosomal abnormalities. 2. In 102 cases of patients showed typical clinical features of Klinefelter's syndrome, 101 cases (99%) of them were diagnosed to Klinefelter's syndrome in karyotyping. 3. In 303 cases of Klinefelter's syndrome, there were 277 cases (91.4%) of 47,XXY complement, 16 cases (5.3%) of mosaicism, 2 cases (0.7%) of 48,XXXY, 5 cases (1.7%) of 48,XXYY and 3 cases (1.0%) of 49,XXXXY. 4. In 303 cases of Klinefelter's syndrome, 284 cases (93.7%) of them were diagnosed after puberty and only 19 cases (6.3%) of them were diagnosed before puberty. 5. In 303 cases of Klinefelter's syndrome, there were 146 cases (48.2%) of patients with infertility-associated chief complaints, 101 cases (33.3%) of patients with typical clinical features of Klinefelter's syndrome, 22 cases (7.3%) of patients with ambiguous genitalia. 6. In patients with Klinefelter's syndrome, 48,XXYY and 49,XXXXY had serious symptoms such as mental retardation, developmental delay, Down syndrome-like features, congenital anomalies, but 48,XXYY and other mosaicisms had infertility-associated symptoms or ambiguous genitalia. 7. The 8 cases of polysomy Y (XYY complement) showed several serious symptoms such as Down syndrome-like features, mental retardation, fragile X syndrome-like feature, congenital anomalies, ambiguous genitalia which could be detected before puberty.

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Dental Treatment of a Patient with Cerebral Palsy under General Anesthesia (뇌성마비 환자의 전신마취 하 치과치료)

  • Chung, Jun-Min;Seo, Kwang-Suk;Yi, Young-Eun;Han, Hee-Jung;Han, Jin-Hee;Kim, Hye-Jung;Shin, Teo-Jeon;Kim, Hyun-Jeong;Yum, Kwang-Won;Chang, Ju-He
    • Journal of The Korean Dental Society of Anesthesiology
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    • v.8 no.1
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    • pp.22-28
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    • 2008
  • Background: Cerebral palsy (CP) is non-progressive disorder of motion and posture. In CP patient, there are difficulties in dental treatment because of uncontrolled movement of limb and head, and conjoined disabilities such as cognitive impairment, sensory loss, seizures, communication and behavioral disturbances. It is reported that CP patients have high incidence in caries and a higher prevalence of periodontal disease. But, despite the need for oro-dental care, these patients often are unlikely to receive adequate treatment without sedation or general anesthesia because of uncontrolled movements of the trunk or head. Methods: We reviewed the 58 cases of 56 patients with CP who underwent outpatient general anesthesia for dental treatment at the clinic for the disabled in Seoul National University Dental Hospital. Results: The mean age was 19 (2-54) years. The number of male patient was 40 and that of female was 18. They all had severe spastic cerebral palsy and 22 had sever mental retardation, 15 epilepsy, 8 organic brain disorder, 1 blindness, 2 deafness and cleft palate. For anesthesia induction, 14 cases was needed physical restriction who had sever mental retardation and cooperation difficulty, but 44 cases showed good or moderate cooperation. Drugs used for anesthesia induction were thiopental (37 cases), sevoflurane (14 cases), ketamine (3 cases ) and propofol (4 cases). All patients except one were done nasotracheal intubation for airway management and 4 cases were needed difficult airway management and 1 patient already had tracheostomy tube. Mean total anesthetic time was $174{\pm}56$ min and staying time at PACU was $88{\pm}39$ min. There was no death or long term hospitalization because of severe complications. Conclusion: If general anesthesia is needed, pertinent diagnostic tests and workup about anomaly, and appropriate anesthetic planning are essential for safety.

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Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis

  • Ko, Jung-Min;Kwack, Kyu-Sung;Kim, Sang-Hyun;Kim, Hyon-Ju
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.145-150
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    • 2010
  • Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.

Chicken FMRP Translational Regulator 1 (FMR1) Promotes Early Avian Influenza Virus Transcription without Affecting Viral Progeny Production in DF1 Cells

  • Woo, Seung Je;Park, Young Hyun;Han, Jae Yong
    • Korean Journal of Poultry Science
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    • v.48 no.2
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    • pp.81-90
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    • 2021
  • Avian influenza viruses (AIVs) must utilize host cellular factors to complete their life cycle, and fragile X mental retardation protein (FMRP) has been reported to be a host factor promoting AIV ribonucleoprotein (vRNP) assembly and exports vRNP from the nucleus to the cytoplasm. The functional role of chicken FMRP translational regulator 1 (cFMR1) as a host factor of AIV is, however, poorly understood. In this study, we targeted the cFMR1 gene in DF1 cells using clustered regularly interspaced short palindromic repeats/Cas9-mediated genome editing to examine the functional role of cFMR1 as a host factor of AIV. We found that cFMR1 stimulated viral gene transcription during early stages of the viruses' life cycle and did not affect viral progeny production and viral polymerase activity in DF1 cells 24 hours post infection. cFMR1 overexpression did not exert significant effects on virus production, compared to the control. Therefore, unlike in mammalian systems (e.g., humans or mice), cFMR1 did not play a pivotal role in AIV but only seemed to stimulate viral proliferation during early stages of the viral life cycle. These results imply that the interplay between host factors and AIV differs between mammals and avian species, and such differences should be considered when developing anti-viral drugs for birds or establishing AIV-resistant bird models.

The Revised Korean Practice Parameter for the Treatment of Attention-Deficit Hyperactivity Disorder (II) - Diagnosis and Assessment - (주의력결핍 과잉행동장애 한국형 치료 권고안 개정안(II) - 진단 및 평가 -)

  • Lee, Moon-Soo;Park, Su-Bin;Kim, Gyung-Mee;Kim, Hyun-Jin;Park, Sangwon;Kim, Yunsin;Lee, Young Sik;Kweon, Yong-sil;Shin, Dongwon
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.28 no.2
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    • pp.58-69
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    • 2017
  • Attention-deficit hyperactivity disorder (ADHD) is a highly prevalent, impairing, and comorbid disorder that persists into adulthood. ADHD should be diagnosed in the same manner as other common adult mental health disorders. The three most important components in the comprehensive evaluation of patients with ADHD are the clinical interview, medical examination, and completion and scoring of behavior rating scales. The diagnostic evaluation of ADHD should include questions about the symptoms, family history, prior evaluation and treatment of ADHD, as well as other problems including alcohol and drug use. Screening interviews or rating scales, as well as interviews, should be used. When it is feasible, clinicians may wish to supplement these components of the evaluation with the objective assessments of the ADHD symptoms, such as through psychological tests. These tests are not essential to reaching a diagnosis, however, or to treatment planning, but may yield further information about the presence and severity of cognitive impairments that could be associated with some cases of ADHD. As comorbidity is the rule rather than the exception, clinicians should carefully screen for comorbid disorders as part of a comprehensive assessment of ADHD. To receive a diagnosis of ADHD, the person must be experiencing significant distress or impairment in his or her daily functioning, and must not meet the criteria for other mental disorders which might better account for the observed symptoms, such as mental retardation, autism or other pervasive developmental disorders, mood disorders and anxiety disorders. This report aims to suggest practice guidelines for the assessment and diagnosis of children, adolescents and adults with ADHD in Korea.

COMORBIDITY OF CHILD AND ADOLESCENT INPATIENTS (소아정신과 입원환자의 공존질병(Comorbidity))

  • Shin, Yun-O;Cho, Soo-Churl;Hong, Kang-E;Kim, Ja-Sung
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.4 no.1
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    • pp.91-97
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    • 1993
  • The objective of this paper was to determine the degree of diagnostic overlap. In a pilot study of 56 inpatients(mean age 12) with DSM-III-R axis I and/or II disorders, the degree of psychiatric comorbidity was examined. 64.3% had two or more diagnoses. The samples were divided into the following 9 groups 1) attention deficit hyperactivity disorder 2) conduct disorder 3) oppositional defiant disorder 4) schizophrenia 5) mood disorders 6) tie disorders 7) elimination disorders 8) mental retardation 9) personality disorders Substantial overlap(especially tic disorders, elimination disorders, disruptive behavior disorders) occured among inpatients Patients had about 2 DSM-III-R axis I & II diagnoses. Additional research with increased sample size is necessary to clarify its relationship with other psychiatric diagnoses.

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Full mouth rehabilitation of the intellectually disabled patient with collapsed bite using partial removable dental prosthesis: a case report (교합이 붕괴된 지적장애 환자의 국소의치 수복증례)

  • Kim, Min-Ji;Yang, Hong-So;Park, Sang-Won;Lim, Hyun-Pil;Yun, Kwi-dug;Park, Chan
    • Journal of Dental Rehabilitation and Applied Science
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    • v.33 no.3
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    • pp.216-222
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    • 2017
  • Intellectual disability is an imperfect disorder in which mental development is permanently retarded and development of intellectual ability is inadequate. Having intellectual disabilities makes it difficult to handle their own work and adapt to social life. For this reason, it is difficult to hygienically manage the patient's oral condition, multiple caries are easily observed, and the periodontal disease incidence rate is high. The patient in this case is a 33-year-old female with a mental retardation first grade who had a problem with meals. In first visit, Patients had decreased occlusal vertical dimension and posterior bite collapse due to periodontitis and multiple caries. This case reports a satisfactory functional and esthetic results by reconstructing occlusion using partial removable dental prosthesis.

A Study on Behavior and Attitude of Pediatric Handicaps in Dental Facilities (치과이용 장애인들의 구강보건 행동과 태도에 관한 연구)

  • Nam, Sang-Bun;Han, Yang-Keum
    • Journal of dental hygiene science
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    • v.1 no.1
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    • pp.39-45
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    • 2001
  • This study is based on the survey conducted on handicaps in randomly chosen 6 welfare facilities and medical institutions located in Seoul and Kyonggi-do. This survey has been conducted from September 20 and October 23, 1999. The results of this study are as follows: (1) 49.7% of individuals have answered that their dental health are not well maintained. (2) The number of brushing activity per day varied according to different physical and mental condition of each individual. (p<0.05) (3) 56.7% of people have answered that they have no experience with scaling. (4) 58.9% of people have answered that they have experienced toothache and gum bleeding problem. (5) 64.4% of individual have answered that they would like to attend seminars on maintaining dental health. (p<0.05) (6) 65.1% of individual infrequently visit to dental facilities. (7) 41.6% of individual possess health care card. (8) 61.8% have answered that disabilities and dental health are closely related. (p<0.05)

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