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Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome (Prader-Willi 증후군의 임상 양상 및 유전학적 진단에 관한 고찰)

  • Lee, Ji Eun;Moon, Kwang Bin;Hwang, Jong Hee;Kwon, Eun Kyung;Kim, Sun Hee;Kim, Jong Won;Jin, Dong Kyu
    • Clinical and Experimental Pediatrics
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    • v.45 no.9
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    • pp.1126-1133
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    • 2002
  • Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.

A Study of the Relationship between Childhood Obesity and Beverage Intake (소아비만과 음료 섭취량의 관계에 대한 연구)

  • Oh, Ji Hyun;Kwak, In Keun;Yang, Seung;Hwang, Il Tae;Jung, Ji Ah;Lee, Hae Ran
    • Clinical and Experimental Pediatrics
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    • v.46 no.11
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    • pp.1061-1066
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    • 2003
  • Purpose : The rising prevalence of childhood obesity may be due to an energy imbalance between food intake and energy expenditure. Recently, consumption of beverages in children has increased. The aim of this study is to provide useful information for the prevention and the control of childhood obesity by assessment of variable beverage consumption. Methods : Fight hundred seventy seven children(M : F=1 : 1.02, mean age; 9.7 years) from two primary schools in Seoul in May 2003 were enrolled. Body mass index(BMI) was calculated and the degree of obesity was classified into normal, overweight and obese groups by BMI percentile. Parental BMI, socio-economic factor, 3-day dietary intake, calory intake and beverage intake were examined by questionnaires. We researched beverages and classified them into six categories, milk, other milk products, soda, sports beverage, other beverage. Results : The prevalence of obesity was 7.2%. The parental BMI of the obese group were higher than those of the other groups. There was no significant difference in birth weight, or parents' intellectual and economic levels between the obese group and the other groups. There was no significant difference in daily total calory intake between the obese group and the other groups. The obese group of 7-9 year-old-males was higher than the other groups in sodas, and sports beverages intake. The obese group of 10-12 year-old-males was higher than the other groups in total beverage intake and other beverage intakes. The obese group of 10-12 year-old-females was higher than the other groups in other milk products. Conclusion : Excessive intake of beverages is associated with childhood obesity. Efforts to decrease intake of beverages may be important approaches to counter the rise in the prevalence of obesity.

A Clinical Study of Child Abuse (아동학대로 진단된 환아의 임상적 고찰)

  • Choi, Yoon Jin;Kim, Shin Mi;Sim, Eun Jung;Cho, Do Jun;Kim, Dug Ha;Min, Ki Sik;Yoo, Ki Yang
    • Clinical and Experimental Pediatrics
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    • v.50 no.5
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    • pp.436-442
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    • 2007
  • Purpose : To promote awareness and efforts by pediatricians to identity and prevent child abuse by investigation of characteristics of victim and types of injury caused by abuse. Methods : A retrospective study was performed with 20 patients who had been diagnosed or suspected as child abuse at Hallym University Hospital from January 1999 to December 2005. The medical records, radiologic documents, and social worker's notes were reviewed to investigate age, sex, visiting time, form of abuse, perpetrator, risk factor, and type of injury. Results : The mean age of the subjects was 2.8 years. Fourteen patients were between 0-1 years old, 2 patients between 1-6 years old, 3 patients between 7-12 years old, and 1 case over 13 years old. The ratio of male to female was 1:1. The majority of these patients (70%) visited via emergency department. Eight five percent of these patients reported with physical abuse, 5% psychological abuse, 5% sexual abuse, and 5% neglect respectively. The suspected perpetrator was the biological father in six cases, the biological mother in three cases, the stepmother in two cases, caregiver in one case, relatives in one case and "unknown" in six cases. Bruise and hematoma (80%) were the most common physical findings. Skull fractures were diagnosed in six cases, long bone fractures in two cases, hemoperitoneum in two cases, subdural hemorrhage in 10 cases, epidural hemorrhages in two cases, subarachnoidal hemorrhages in two cases, and retinal hemorrhages in five cases respectively. Seventeen cases required hospitalization and surgical operations performed were in nine cases. Four patients died and three patients had sequalae such as developmental delay and quadriplegia. Conclusion : Child abuse results in high mortality and morbidity in victims. Therefore early recognition and prevention is very important. Pediatricians should always suspect the possibilities of abuse in cases of fracture, intracranial hemorrhage, abdominal injury, or even any injury to the body. We recommend that the clinical investigation of suspicious children should include a full multidisciplinary social assessment, a skeletal survey and CT or MRI.

Prevalence of Obesity and Its Relationship to Diet on Elementary Students (학동기 아동의 비만유병률과 체중조절 실태에 관한 연구)

  • Rho, Young-Ill;Kim, Kang-Ho;Yang, Eun-Seok;Park, Young-Bong;Park, Sang-Kee;Park, Jong;Moon, Kyung-Rye
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.3 no.2
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    • pp.181-187
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    • 2000
  • Purpose: The purpose of our study is to provide useful information for the prevalence of obesity by the standard weight for height and the relationship of the body image to dieting methods for weight control in children. Methods: The survey was performed by an anthropometry and a special questionnaire on children in grades 5 to 6 at elementary schools from May to June 1997 in Kwangju city. Results: 1) Selected individuals were categorized into obese, normal, thin by the standard weight for height and body image. The prevalence of obesity by the standard weight for height was 19.5%, normal was 70.5%, thin was 10.1% in males and respectively 10.5%, 66.3%, 23.1% in females. The prevalence of obesity in regards to body image was 18.4%, normal was 58.4%, thin was 23.2% in males and respectively 24.5%, 58.6%, 16.9% in females. 2) The obese body image was 6.8% in normal and thin groups in males and 19.4% in females. The body image of obese children who do not perceive themselves as obese was 32.6% in males and 28.7% in females. 3) The standard body image was 88.8% as realized by themselves, 77.9% when they compared themselves to friends, 62.7% as told by parents, 56.8% as told by friends, and 29.9% when they compared themselves to celebrities. 4) The source of information for dieting treatment was 44% from radio and television, 30% from books, newspapers, magazines, 17% from family and 9% from friends and seniors. 5) The prevalence of dieting according to the standard weight for height was 18.0% in thin, 18.7% in normal and 36.7% in obese group in males and respectively 17.8%, 22.4%, 46.3% in females. There was a statistically significant correlation between males and females (p<0.0005). 6) The prevalence of dieting up to 2 weeks in the thin and normal groups as recognized by weight centile was 17.3% according to body image. The prevalence of dieting up to 2 weeks in the obese groups was 37.2% according to body image (p<0.001). Conclusion: We suggest that many students perceived their body size incorrectly and tried weight control. The incorrect perception of body size seems to cause the problem of failure to thrive, malnutrition etc. It is necessary for further study to find and prevent side effects by unnecessary weight control and to provide proper health education and management about obesity.

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Adolescents' and Parental Knowledge, Health Beliefs Toward Hepatitis A Vaccination (청소년과 그들의 보호자를 대상으로 실시한 A형 간염 예방접종에 대한 지식 및 건강신념 연구)

  • Yoon, Seo Hee;Lee, Hyo Yeon;Kim, Han Wool;Kong, Kyoung Ae;Kim, Kyung-Hyo
    • Pediatric Infection and Vaccine
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    • v.20 no.3
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    • pp.147-160
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    • 2013
  • Purpose: Although the overall incidence of hepatitis A in Korea has been decreasing recently, the adolescents born before the introduction of the hepatitis A vaccine remain to be highly vulnerable to outbreak. This study examines the unvaccinated adolescents' and their parents' knowledge and health beliefs toward hepatitis A vaccination. Methods: Healthy adolescents aged 13-19 years old who had no previous history of hepatitis A vaccine and hepatitis A infection, and their parents or legal guardians were the subjects of the study. The survey was conducted using a structured questionnaire based on the Health Belief Model, and examined the subjects' demographics, knowledge, and health beliefs (i.e., perceived susceptibility, severity, benefits, and barriers). Results: We included 157 adolescents and their parents/guardians (mean age: $16.0{\pm}1.6$ and $45.6{\pm}4.7$ years, respectively). The average knowledge item score for adolescents and parents was $6.4{\pm}3.7$ and $7.3{\pm}3.4$ (out of 18), respectively. Similarly, average Health Belief Model item scores were: susceptibility, $5.6{\pm}1.6$ and $5.9{\pm}1.7$ (range: 2-10); severity, $16.3{\pm}4.1$ and $18.3{\pm}3.6$ (range:5-25); benefits, $19.7{\pm}3.3$ and $20.6{\pm}2.1$ (range:5-25); and barriers, $41.3{\pm}8.9$ and $39.0{\pm}9.1$ (range:7-85). The major reason for not undergoing hepatitis A vaccination was lack of knowledge about its importance. Conclusions: Refresher health lectures about hepatitis A and the vaccine are needed by both the adolescents and their parents. Furthermore, the inclusion of hepatitis A vaccine in the national immunization program should be considered to reduce the risk of hepatitis A outbreak and to raise the vaccination coverage among the adolescents in Korea.

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THE CLASSIFICATION OF ADOLESCENTS IN RUNAWAY SHELTERS BY THE EVALUATION OF THEIR PSYCHOPATHOLOGY (보호시설 가출청소년의 정신병리에 대한 평가와 분류)

  • Lee, Jong-Sung;Kwack, Young-Sook
    • 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.

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FACTORS OF MENTALLY HANDICAPPED CHILDREN AND THEIR FAMILY ASSOCIATED WITH THE QUALITY OF LIFE AND THE EMOTIONAL WELLBEING OF THEIR MOTHERS (장애 아동의 행동 특성과 가족환경이 어머니의 정서적 안녕감과 삶의 질에 미치는 영향)

  • Lee, Yong-Ho;Chung, Yong-Kyoon;Cho, Soo-Churl;Koo, Young-Jin
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.10 no.1
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    • pp.100-112
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    • 1999
  • Objective:In life-long disabilities like autism and mental retardation, the authors thought that it is important for clinician to consider the quality of life of a primary caregiver for long-term management and prognosis. This study was to investigate the factors of children and family environment affecting the quality of life and depression in mothers with autistic and/or mentally retarded children. Methods:41 autistic and/or mentally retarded children aged 5-12 years with their mothers were surveyed from September, 1998 to January, 1999, with K-CBCL, K-BDI, K-FES, and K-SBQOL scale and compared with data from 35 normal control subjects. Results:1) Total K-BDI and K-SBQOL scores of mothers with mentally handicapped children were significantly poorer than the scores of normal control group. Independence, intellectual/cultural orientation and active recreation subscales of K-FES in mentally handicapped children were significantly decreased than those in normal control group. 2) Total K-BDI score of mothers with mentally handicapped children was correlated with their children’s behavioral problems, especially internalizing and thought symptoms, and with family cohesion, expressiveness, conflict and independence. 3) Totol K-SB quality of life score of mothers with mentally handicapped children was correlated with their children’s behavioral problems, especially attention problem, and with family cohesion, conflict, independence, intellectual/cultural orientation, and moral-religional emphasis. 4) The quality of life of mothers with mentally handicapped children was predicted by attention problem($R^2$=.36, p=.000) and social competence($R^2$=.07, p=.038) in children and family cohesion ($R^2$=.16, p=.001). 5) Depression of mothers with mentally handicapped children was predicted by internalizing symptom ($R^2$=.21, p=.003) and thought disorder($R^2$=.06, p=.048) in children and family cohesion($R^2$=.14, p=.008). Conclusion:Reducing behavioral problems and family therapeutic intervention in autistic and mentally retarded children can improve the quality of life of primary caregivers and long-term prognosis of the children, although those are not curative.

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A STUDY ON COMORBID DISORDERS AND ASSOCIATED SYMPTOMS OF PERVASIVE DEVELOPMENTAL DISORDER CHILDREN (전반적 발달장애 아동들의 공존질환 및 동반증상에 대한 연구)

  • Kwak, Young-Sook;Kang, Kyung-Mee;Cho, Seong-Jin
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.10 no.1
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    • pp.64-75
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    • 1999
  • Objective:The purpose of this study was to investigate the prevalence and characteristics of comorbid disorders and associated symptoms in pervasive developmental disorder(PDD) and to examine the correlation between associated symptoms and developmental characteristics in PDD children. Method:The sample consisted of 209 cases of PDD and 143 cases of developmental language disorder(DLD)(control group) who were treated at the Seoul National Mental Hospital from Jan. 1996 to Mar. 1999. The diagnostic work based on DSM-IV criteria was performed by one or two child psychiatrists, while the clinical feature was evaluated by doctors’s notes, occupational/speech therapy reports, and results of social maturity scale(SMS), childhood autism rating scale(CARS), and psycho-educational profile(PEP). Two groups were compared on a wide range of measures including comorbid disorders, associated symptoms, treatment drugs, and PEP. The relation between associated symptom & PEP was investigated in total(106 cases) and in each dignostic group. Sixty-four cases of PDD were divided into three groups by CARS and then compared on associated symptoms. Result:The prevalence of comorbid disorder was 19.6% in PDD, 41.2% in DLD. The rate of manifestation of 13 associated symptoms was 31.47% in PDD, 22.13% in DLD on the average. Associated symptoms significantly high in PDD were preoccupation, obsession, self-mutilation, stereotypy, sleep problems, and odd response. In total patient group, associated symptoms that significantly influenced PEP were preoccupation, self-stimulation, stereotypy, inappropriate affect, sleep problems, and odd response. But, in each diagnostic group, no associated symptom influenced PEP. Associated symptoms significantly different between the 3 groups of CARS were stereotypy, anxiety, and sleep problems. Conclusion:These preliminary results suggest that developmental characteristics may influence associated symptoms in PDD children and a realistic approach considering minute diagnosis by associated symptoms and comorbid disorders is required.

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The Relationship Between Son Preference and Fertility (남아 선호와 출산력간의 관계)

  • 이성용
    • Korea journal of population studies
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    • v.26 no.1
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    • pp.31-57
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    • 2003
  • This study is intended to examine (l)whether the value of son-for example, old age security and succession of family lineage- causing son preference in the traditional society can be explained at the individual level, (2)whether women without son in the son preference country continue her childbearing until having at least one son or give up the desire of having a son at a certain level. To accomplish these purposes, the 1974 Korean National Fertility Survey data are analyzed by the quadratic hazard models controlling unobserved heterogeneity. Unlike ordinary regression model, even omitted variables that affect hazard rates and are uncorrelated with the included independent variables can distort the parameter estimates in the hazard model. Therefore the nonparametric maximum likelihood estimator(NPMLE) of a mixing distribution developed by Heckman and Singer is used to control unobserved heterogeneity. Based on the statistical result in this study, the value of son causing son preference is determined at the societal level, not at the individual level. And Korean women without a son did not continue endlessly childbearing during child bearing ages until having a son. In general, they gave up the desire having a son when she had born six daughters continuously. Thus, 30-40 years ago, the number of daughters that women without a son giving up the desire of son was six, which is about the level of total fertility rate during 1960s. In these days, we can often see many women who have only two or three daughters and do not any son. This means that the level of giving up the desire of son, which is one factor representing the strength of son preference, becomes lower. If the strength of son preference did not become much weaker, then the fertility rates in Korea could not reach the below replacement level.

Studies on the Estimation of the Genetic Parameters on All Traits in Korean Native Ogol Fowl IV. Estimations of the Heritabilities and Genetic Correlations on the Body Conformations (한국재래오골계의 제형질에 대한 유전모수 추정에 관한 연구 IV. 체형에 대한 유전력 및 유전상알 추정)

  • 한성욱;상병찬;김홍기
    • Korean Journal of Poultry Science
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    • v.18 no.1
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    • pp.1-8
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    • 1991
  • This study was conducted to estimate heritabilities and genetic correlations on body shape components in Korean Native Ogol fowl , The data analysis were record of 450 pullets producted from 150 dams and 20 sires of Korean Native Ogol fowl raised at Chungnam National University from June 18, 1987 to April 6, 1989. The results obtained are sammarized as follows ; 1. On the body components, shank length at 8, 24 weeks and 300 days of age were $8.717\pm$0.363, $9.576\pm$0.390 and $9.646\pm$0.389cm, the breast width were 3.469$\pm$0.234, $4.310\pm$0.345 and $4.752\pm$0.343cm; the breast girth at 8, 24weeks and 300 days of age were $22.819\pm$1.082, $36.719\pm$1.793 and $39.008\pm$1.709cm; the tibia length at 8, 24weeks and 300days of age were $9.941\pm$0.888, $13.183\pm$0.499 and $13.560\pm$0.552cm. 2. The heritability estimates of body shape components based on the variances of sires, dams and combined components from 8, 24 weeks and 300 days of age were 0.235-0.290, 0.589-0.890 and 0.437-0.565 for shank length ; 0.185-0.237, 0.444-0.536 and 0.314-0.392 for breast width ; 0.218-0.552, 0.499-0.746, 0.486-0.558 for breast girth ; 0.339-0.432, 0.281-0.543 and 0.340-0.446 for tibia length, respectively. 3. The genetic correlation coefficient of body shape components were as follows ; between shank length and breast width, breast girth, tibia length were 0.237-0.836, 0.277-0,729 and 0.378-0.915;between breast width and breast girth, tibia length were 0.637-0.889 and 0.384-0.903;between breast girth and tibia length was 0.905-0.995, respectively.

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