• Clinical and Experimental Pediatrics
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• v.51 no.5
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• pp.546-550
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• 2008

In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individuals- like the mother of this case- who have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels. A number of studies have now demonstrated considerable variability in blood vs. brain phenylalanine levels in phenylketonuria patients. Outcome of phenylketonuria appears to be related to brain phenylalanine levels. We report a case of "undiagnosed" maternal phenylketonuria syndrome. A female infant had low birth weight (2,400 g) with microcephaly. We examined her family and discovered that her mother was an undiagnosed phenylketonuria patient with a borderline intelligence quotient (IQ). The infant's sister, six years old, was diagnosed with phenylketonuria at the age of four years was mentally retarded and had received an operation for cleft lip and palate. the sister had also had a low birth weight (2,300 g). Her sister and mother were compound heterozygotes (mother: R243Q/Y325X; sister: Y325X/P407S). The infant and father were heterozygous carriers (baby: R243Q/ -; father: P407S/ - ).

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.2
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• pp.351-356
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• 2008

Cerebral palsy, a range of non-progressive syndromes of posture and motor impairment, is a common cause of disability in childhood. Self-injurious behavior(SIB) is deliberate harm to the body without suicidal intend, often involving repetitive actions that cause tissue damage. One of the most common orofacial self-injurious behavior is chewing tongue, lip or oral mucosa. This kind of SIB in children is not common in normal children. High occurrence rates are observered in cases of syndromatic, mentally retarded children, and children with congenital disease. Various methods such as behavior modification, behavior control by drugs, body restraints, application of dental appliance, surgery and extraction of teeth have been suggested to control those self-injurious behavior. Using mouthguard as one of dental applainaces is the most conservative and appropriate method in terms of reducing oral self-injurious habits and protection of tissue. This case report describes a child with cerebral palsy who presented with self-injurious ulceration of lip and buccal mucosa. A modified mouthguard was effective in preventing self-injurious oral trauma in a child with cerebral palsy.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.3 no.1
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• pp.147-157
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• 1992

The fragile X syndrome, which is considered to be synonymous with the Martin-Bell syndrome, is a relatively common form of X-linked mental retardation. The syndrome seems to occure in many different ethnic groups and its prevalence among mentally retarded males has been estimated to be in the order of 2 to 6%. The karyotypic hallmark of the syndrome is made up with a pronounced constriction near each tip of the long arm of the X chromosome(fragile site), shown in vitro only under conditions in which thymidylate production is blocked(lowered folate levels). Special culture media are needed to demonstrate this constriction site. Major clinical features associated with the syndrome include macroorchidism, large or prominent ears, significant emotional and behavioral dysfunctions such as hyperactivity, self-injury, lack of eye contact and social interaction, schizophrenia, autism, etc., and speech and language dysfunctions ranging from nonverbal to verbal speech with moderate to severe expressive language delays. Some have minor clinical features in common such as an increase in birth weight high forehead, prognathism, increased head circumference in infancy and childhood which did not persist into adult life. The recent research findings have shown that the fragile X syndrome is associated with infantile autism. Many patients with the fragile X syndrome fulfill the diagnostic criteria for infantile autism. Therefore it is recommendable that any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fragile X examination. In the present review, historical aspects, incidence, and clinical features are presented. Recent anecdotal reports of the association with autism and the clinical improvement following high dose folic acid treatment will be discussed.

• The Korean Journal of Rehabilitation Nursing
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• v.4 no.2
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• pp.240-247
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• 2001

The history of rehabilitation of disabilities in Korea began with the foreigners and missionaries who were interested in it after Korean War. In 1981, Disabled Persons Welfare Act was enacted and the 88 Paralympics brought the nations attention to the welfare and rehabilitation of persons with disabilities. Since then, the facilities and the services for the disabled persons have expanded rapidly and the rehabilitation treatment and nursing intervention are drawing more attention. Against this background, the survey on the current status of disabilities, welfare service, facilities, and rehabilitation nursing was conducted. The results of this survey are as follows. 1. According to the 2000 census of disabilities, the number of persons with disabilities in Korea is estimated at 1,449,500, or 3.09% of the entire Korean population, 0.74% up from 2.35% in 1995. 2. Disability Types in 2000 The 2000 census showed that the persons with disabilities numbered 1,449,496 out of the total population and 1,024,371 persons are registered for disability, making up 70.7% of the estimated disabled population. Among them, physically disabled persons accounted for the largest 41.7% (605,127) and mentally retarded persons stood at the smallest 9% (13,481). 3. Percentage of Disability Presence The survey showed that more than 90% of disability were acquired. However, 44.8% of mental disability and 61.4% of hearing/speaking disability were not acquired after birth. This means that these disabilities happened by congenital cause or birth accident. 4. Yearly Figure of Registered Disabled Persons In 1989, 218,601 persons registered for disability and, in 2000, the number increased by 4.7 times to 1,024,371. These figures are different from the actual number of disabled persons. According to the 1995 census, 1,053,486 were disabled persons but only 378,323registered for disability. And, in the 2000 census, 1,024,371 out of the 1,449,496 of disabled persons registered for disability. 5. Welfare Service for Persons with Disability 62.6% of the total disabled people are registered and physically disabled persons accounted for the highest percentage of 96.7%. 26.5% of non-registered disabled people said that they didnt know the registration procedure. The rest of them replied that they didnt think they were disabled or that registration didnt seem to give any benefits. 6. Welfare Policies for Disabled Persons The welfare benefits given to the disabled are as follows: Issuance of disabled sign for car drivers, Permission to use LPG fuel, Communication fee reduction, Tax exemption related to cars, Reduction of public facility fees, Household allowance, Tax reduction or exemption, Medical allowance and education subsidy for children, and Housing. 7. Current Condition of Welfare Facilities by Disability Type The welfare institutions for disabilities numbered 188 in total and they can accommodate 16,823 persons. Categories of these institutions are physical disability(37), visual disability(10), hearing/speaking disability(14), mental retardation(59), and sanatoriums(68). 8. Human Resource of Rehabilitation of Disabilities Advanced education programs include rehabilitation nursing in its curriculum and this was selected as the program of Korean Academic Society of Nursing in 1990. In November 1997, Korean Academic Society of Rehabilitation Nursing was launched and many academic meeting and seminars were held. This organization is also making efforts to develop the education program for qualified rehabilitation nursing professionals and to develop the standards of rehabilitation nursing practice. In the professionals of the rehabilitation, there are rehabilitation specialist, physical therapist, speech therapist, occupational therapist. It is needed to come up with the measures to supply stable human resources following the demand of disabled persons and to recognize the private certificates for rehabilitation professionals as official ones after reviewing the education and training programs of private institutions. 9. Rehabilitation Nursing 1) Rehabilitation nursing was taught as an independent subject in 11 undergraduate programs and 9 graduate programs. 2) Research on rehabilitation nursing in Korea were 24 experimental research and 11 non-experimental research. The intervention of experimental research were mostly education and exercise rehabilitation programs. 3) In the three rehabilitation hospitals, nursing is divided into two categories, direct nursing and education & counseling. Direct nursing includes tracheostomy or nasogastric tube care, urination and defication, skin care, pain control, complication prevention and care, prevention of injury from a fall, etc.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.12 no.2
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• pp.192-217
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• 2001

Object：This study was carried out to classify adolescents in runaway shelters by evaluating their psychopathology. And the ultimate purpose is to offer basic data for preventing adolescents‘ runaway and for diversifying runaway shelters suitable for the problem of individual adolescent. Method：128 adolescents who stay in the runaway shelters were asked to complete self-report qeustionnaires including basic sociodemographic data, Child Behavior Check List(CBCL), Minnesota Multiphasic Personality Inventory(MMPI), and Symptom Check List-90-Revised(SCL-90-R). Korean Wechsler Adult Intelligence Scale(K-WAIS)[or Korean Educational Developmental Institute-Wechsler Intelligence Scale for Children(KEDI-WISC)] and Bender-Gestalt test(BGT) were also done by clinical psychologists. Results：The most common age of the subjects were 15-year-old, and they dropped out their schools in the middle school most commonly. Mostly they were from middle class family and their parents' educational level were high school graduates. The first runaway episode was most common in the middleschool period, and their runaways were repeated. The most common frequency of runaways were more than 10 times. About 10% of them abused drugs and about 80% of them abused alcohol. One third of them had experiences of illegal problems and 10% of them engaged in sexual activity for money. 95 adolescents(83%) in CBCL, 42 adolescents(36%) in SCL-90-R, and 70 adolescents(69.3%) in MMPI showed clinical significance. In intelligence test, 22 adolescents(22%) were mentally retarded. In BGT, 35 adolescents(39.4%) manifested brain dysfunction signs. Conclusion：Runaway adolescents in the shelters have variable and severe psychopathology. Their psychopathology is classified as follows；The behavior disorder group, the mood disorder group with anxiety/depression, the somatic disorder group with somatic symptoms, and the psychosis group with possibility of severe psychopathology. Therefore it is very important to evaluate psychiatric problems of runaway adolescents, and specific therapeutic interventions according to their problems are required.

• Korean Journal of Social Welfare
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• v.57 no.2
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• pp.5-40
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• 2005

Social welfare centers and residential care facilities where provide the socially disadvantaged with proper social services, face financial difficulties. This is because not only of the lack of governmental support, but also of social welfare centers and residential care facilities' lack of skills in developing abundant resources from the private sector. In this context, this study tried to find factors affecting resource mobilization of the social welfare facilities to devise policies in resource development. Mail survey was conducted with the structured questionnaire. Employees in charge of community resource development were asked to answer the questionnaire. The study population were welfare centers and residential care facilities. A total of 293 community welfare centers and 632 residential care facilities responded to the survey. The response rate was about 62%. The dependent variables of the study were the amount of resource mobilization in the year 2001 which was measured as the number of donors, the total amount of donation, and estimated amount of gift-in-kind. Three types models were constructed per each welfare institution. Independent variables were selected based on the previous research findings: community environment factor, structural factor, and resource development factor. Multiple regression was utilized to analyze the data. The resource development factor turned out to be significant variable in various models. In the models of donors, the amount of donation, and the amount of gift-in-kind (except for the welfare center model), at least one out of six variables of the resource development factors was significant welfare center. Welfare centers which establish the resource development department or hire employees to take care of resource development, utilize computer softwares to file donors, and utilize donor management programs, have more donors and/or donations than their counterparts. In addition, residential care facilities located in urban area have more donors and donations, and among residential facilities those for the disables, those with longer history and more employees, receive more donations than their counterparts. As for the gift-in-kind model, the welfare centers located in high income area and residential care facilities for the elderly, children and mentally retarded receive less gift-in-kind than their counterparts Based on the above findings, this study suggested that to mobilize resources the welfare centers as well residential care facilities need to have community resource development department or resource development staffs, adopt computer software to systematically organize donors, and utilize donor mobilizing and maintaining programs.

• Journal of Korean society of Dental Hygiene
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• v.8 no.4
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• pp.115-125
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• 2008

The purpose of this study was to examine the relationship between the Dentocult SM and LB scores of students and their DMF rate. The subjects in this study were 134 special school students in south Gyeong-sang province. After they were tested to find out their, they received tooth brushing education and preventive treatment. The test, education and treatment were all conducted from March 17 to April 9, 2008. Their oral state was checked and recorded by using a mirror and explorer, and then the data on oral state were analyzed to their DMFT, DT, FT and MT rates. All the collected data were analyzed with SPSS 15.0 for Windows program, and independent-samples t-test, one-way ANOVA and crosstabs analysis were implemented to see what differences their disability type, gender, Dentocult-SM scores and Dentocult-LB scores made. The findings of the study were as follows: 1. As for connections between disability type and DMFT rate, the students with mental retardation were similar to the other students in that regard. The mentally retarded students had higher DT and FT rates than the other students, and the MT rate of the latter was higher than that of the former. 2. Concerning the relationship of gender to DMFT and DT rates, the girls had larger DMFT and DT rates than the boys, and the FT and MT rates of the boys were higher than those of the girls. 3. As to links between Dentocult SM scores on the tongue and DMFT, the students whose bacteria was mildly activated had the highest DMFT rate, and the students who had a severely activated bacteria had the highest DT and FT rates. Those who had a moderately activated bacteria had the highest MT rate. 4.Regarding the connection of Dentocult SM scores on maxillyright molar to DMFT and DT rates, the students whose bacteria was severely activated had the highest DMFT and DT rates. Those who had no activated bacteria had the largest FT rate, and the students who had a mildly activated bacteria had the highest MT rate. 5.Regarding the connection of Dentocult SM scores on maxillyleft molar to DMFT and DT rates, the students whose bacteria was severely activated had the highest DMFT and DT rates. Those who had no activated bacteria had the largest FT rate, and the students who had a mildly activated bacteria had the largest MT rate. 6. Regarding the connection of Dentocult SM scores on mandibularright molar to DMFT and DT, FT rates, the students whose bacteria was severely activated had the highest DMFT and DT, FT rates. Those who had a moderately activated bacteria had the highest MT rate. 7. Regarding the connection of Dentocult SM scores on mandibularleft molar to DMFT and DT rates, the students whose bacteria was mildly activated had the highest DMFT and DT rates. Those who had no activated bacteria had the largest FT rate, and the students who had a moderately activated bacteria had the highest MT rate. 8. Regarding the connection of Dentocult LB scores to DMFT and DT rates, the students whose bacteria was severely activated had the highest DMFT and DT rates. Those who had no activated bacteria had a moderately FT rate, the students who had a mildly activated bacteria had a mildly MT rate.