• The Journal of Korea Assosiation for Disability and Oral Health
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• v.3 no.1
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• pp.17-21
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• 2007

Alagille syndrome is an autosomal dominant genetic disorder and occurs in approximately 1 in 100,000 live births. Diagnostic criteria was established by Alagille. It is mainly caused by a mutation in the Jagged1 gene. Major clinical features of this syndrome are paucity of intrahepatic bile duct with cholestasis, characteristic facies, cardiac murmur, defects of vertebrae, and embryotoxon. And minor clinical features are mental retardation, renal involvement, growth retardation, other skeletal abnormalities, a high-pitched voice. The surviving prognosis of Alagille syndrome patients depends on the severity of cardiovescular malformation in the early ages of infant. However, with the increasing years, it depends on the severity of the liver disease. Cholestasis causes congenital jaundice, malnutrition and growth retardation. Also, the increase of serum cholesterol level cause xanthoma and pruritus. Even though the severity of these problems are reduce with age, there is cases where there is no way but liver transplantation. For oral features of Alagille syndrome patients, green discoloration of entire dentition, induced by bilirubin infiltration into dentinal tubules, is especially. Also, xanthoma on gingiva and partial hypodontia have been reported. This report is on the oral features of an Alagille syndrome patient who visited to Kyung-Pook University Hospital.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.37-44
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• 2010

Purpose : Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotypic and genetic characteristics of six patients with Kabuki syndrome. Materials and Methods : Between 2003 and 2009, six Korean girls have been diagnosed and followed up as Kabuki syndrome at Center for Genetic Diseases of Ajou University Hospital. Their clinical and laboratory data were collected and analyzed by the retrospective review of medical records. Results : All six patients showed the characteristic facial dysmorphism and developmental delay. Persistent fingertip pads were also found in all patients. Most patients showed postnatal growth retardation (83.3%) and hypotonia (83.3%). Opthalmologic problems were common, particularly for strabismus (83.3%). Congenital heart defects were present in three patients (50%). Skeletal abnormalities including 5th finger shortening (83.3%), clinodactyly (50%), joint hypermobility (50%) and hip dislocation (16.7%) were also observed. There was no patient who had positive family history for Kabuki syndrome. Cytogenetic and molecular cytogenetic analyses including karyotyping and array CGH could not reveal any underlying genetic cause of Kabuki syndrome. Conclusion : Korean patients with Kabuki syndrome showed a broad spectrum of clinical features affecting multiple organ systems. Although clinical manifestations of Kabuki syndrome have been well established, our results failed to detect recurrent chromosome aberrations which could cause Kabuki syndrome. Its natural history and genetic background remains to be further studied for providing appropriate management and genetic counseling.

• Clinical and Experimental Pediatrics
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• v.58 no.1
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• pp.8-14
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• 2015

In patients with a language developmental delay, it is necessary to make a differential diagnosis for autism spectrum disorders (ASDs), specific language impairment, and mental retardation. It is important that pediatricians recognize the signs and symptoms of ASDs, as many patients with language developmental delays are ultimately diagnosed with ASDs. Pediatricians play an important role in the early recognition of ASDs, because they are usually the first point of contact for children with ASDs. A revision of the diagnostic criteria of ASDs was proposed in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) that was released in May 2013. The autism spectrum describes a range of conditions classified as neurodevelopmental disorders in the fifth edition of the DSM. The new diagnostic criteria encompasses previous elements from the diagnosis of autistic disorder, Asperger disorder, childhood disintegrative disorder, and pervasive developmental disorder-not otherwise specified. An additional change to the DSM includes synthesizing the section on social and communication deficits into one domain. In ASD patients, the appropriate behavioral therapies and rehabilitation treatments significantly affect the prognosis. Therefore, this makes early diagnosis and treatment very important. In conclusion, pediatricians need to be able to recognize the signs and symptoms of ASDs and be attentive to them in order to make an early diagnosis and provide treatment.

• Journal of The Korean Dental Society of Anesthesiology
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• v.13 no.3
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• pp.139-143
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• 2013

The patient who has congenital hypothyroidism and pseudohypoparathyroidism could have mental retardation even though adequate hormone treatment and cannot endure conventional dental treatment. In this case, general anesthesia is selected to administer effective dental treatment. But, there could be symptoms such as anemia, neuropathy, associated pituitary or adrenal hypofunction, cardiac failure even in euthyroid state. And, bradycardia, mental dullness, hypothermia, slow reflexes can appear in case of inadequate thyroid hormone replacement. Especially, macroglosssia, slow drug metabolism, exaggerated responses to anesthetic agents and decreased ventilatory responses could be problem during general anesthesia. The presentation of hypoparathyroidism also varies depending on the chronicity of the result of hypocalcemia. Muscle spasms/tetany, paresthesias, and seizures may occur in an acute onset. Chronic hypocalcaemia causes fatigue, muscle cramps, lethargy, personality changes, and cerebration defects.

• Journal of Fisheries and Marine Sciences Education
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• v.19 no.1
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• pp.91-100
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• 2007

The purpose of this study was to compare personality existed in the populations of the mentally retarded with and without Down syndrome. For this purpose, two research questions were proposed. (a) Is there any difference of personality existed between two groups? (b) Is there any difference of sub-personality existed between two groups by disability degree? Participants in this are 159 people with mental retardation(the mentally retarded with Down syndrom: 82, the mentally retarded without Down syndrom : 77) in P and S cities. First of all, the reliability in measurement instrument was verified through a pre-study. For the first research question, t-test was used. And two way ANOVA was used to investigate the second research question. The results of this study were as follows:First, according to the result of t-test, there were significant differences of personality scores between two groups. And there were significant differences between the mentally retarded with and without Down syndrome regard to expectation of success, outerdirectedness, positive or negative responding tendency, curiosity among sub-personality factors. Second, the result of the two way ANOVA analysis, no meaningful statistically difference in personality by degree of the impairment. But It showed difference regard to effectancy motivation, expectation of success, curiosity among sub-personality factors between the mentally retarded with and without Down syndrome by impairment degree.

• Journal of Preventive Medicine and Public Health
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• v.26 no.3 s.43
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• pp.412-429
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• 1993

For the purpose of promotion of mental health in the rural elderly, the author surveyed 558 elderlies aged 60 years or more, and assessed the prevalence rates of depression and cognitive impairment by using self-rating depression scale of Zung (SDS) and the Korean version of mini-mental state examination (MMSEK). Also the association between depression or cognitive function and socio-environmental factors were investigated. The major findings were as follows ; 1. The prevalence rates of severe depression and cognitive impairment were 20.9% and 14.9% in all the elderly of both sexes, respectively. 2. The rates of depression and cognitive impairment increased with increasing age in both sex groups. The mean scores of SDS increased and the mean scores of MMSEK decreased significantly among them (p<0.01). 3. Those being female, widows or widowers, and those having low levels of physical activity, showed significantly high the mean scores of depression and had significantly low the mean scores of cognitive impairment (p<0.01). 4. The depression scores relating to decreased libido, confusion, psychomotor retardation, hopelessness and indecisiveness were relatively high in both sexes. 5. All the items of mini-mental state examination were significantly correlated with depression. 6. In stepwise multiple regression analysis on depression, MMSEK, level of physical activity, chronic disease, marital status and family income were selected as highly correlated variables, and the $R^2$-value for these variables was 33.7%. 7. In stepwise multiple regression analysis on cognitive function, level of physical activity, age, depression, sex and marital status were selected as highly correlated variables, and the $R^2$-value for these variables was 62.6%. The depression and cognitive impairment of the elderly were positively correlated with nearly all sociodemographic variables.

• 한국정보교육학회:학술대회논문집
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• 2004.08a
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• pp.146-153
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• 2004

세계는 이미 '정보화 시대'라는 거대한 물결에 휩쓸려 가고 있다. 그 속에 정보화 기술의 혜택을 가장 많이 받아야 함에도 불구하고 소외되고 있는 계층이 있다. 바로 몸이 불편한 장애우가 바로 그들이다. 이들이야말로 다양한 정보화 매체를 활용함으로써 더 큰 효과를 기대할 수 있으므로 본 연구에서는 이 중 마우스 사용이 가능한 정신지체아들을 위한 단계별 문자교육 시스템을 설계하였다. 이와 같이 주의 집중력이 현저히 떨어지고 학습의 효과가 단기간에 나타나지 않는 정신지체아들에게 지속적이고 단계적인 시스템을 제공함으로써 정보화 사회에 적응력을 높이고 컴퓨터 조작 기능과 문자 해득력을 향상시키는 방안을 모색하고자 한다.

• Journal of Chest Surgery
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• v.22 no.4
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• pp.680-686
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• 1989

Supravalvular aortic stenosis may be defined as an obstructive congenital deformity of the ascending aorta which originates just distal to the level of the origin of the coronary arteries. It may occur in several different anatomical form. Three type have been described; the hourglass, the hypoplastic and the membranous type, each term identifying the gross characteristic of the lesion causing by the aortic obstruction. Non cardiovascular condition commonly associated with supravalvular aortic stenosis are mental retardation, facial anomalies, hypercalcemia, etc. The diagnosis can be established preoperatively by left heart catheterization and selective angiography. Recently, we experienced a case of multiple localized supravalvular aortic stenosis involving, just above the sinus Valsalva and just proximal of the innominate artery. The surgical correction which was performed by a vertical incision across the each narrowing of aorta with replacement of diamond shaped double velour Woven Dacron patch under the CPB. He was discharged without any event.

• Journal of the korean academy of Pediatric Dentistry
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• v.10 no.1
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• pp.13-23
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• 1983

The purpose of this study was to make a comprehensive study and provide information about the oral status of handicapped. 874 (male: 540, female: 334) persons who are housed by 12 institution aged from 4 to 28 years in Seoul area was examined by considering the DMF rate, periodontal condition and occlusion. The obtained results were as follows: 1. Cerebral palsy, poliomyelitis, mental retardation, and blindness groups had a significant higher DMF rate than that occurring in any of the remaining groups. 2. Prevalence of periodontal disease in blindness, mongolism, cerebral palsy, poliomyelitis groups showed higher than that of the remaining groups. 3. Mongolism group had a significantly higher incidence of malocclusion (69.23%).

• Neonatal Medicine
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• v.16 no.1
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• pp.81-84
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• 2009

Septo-optic dysplasia is a rare congenital disorder characterized by the absence of the septum pallucidum, hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. Schizencephaly is an abnormal cleft in the brain, lined with gray matter which may communicate with the ventricular system. Septo-optic dysplasia with schizencephaly is associated with endocrinologic disorders, visual impairment, mental retardation, and seizures. We report a case of septo-optic dysplasia with schizencephaly which was diagnosed in the early neonatal period.