• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.10 no.1
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• pp.3-14
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• 1999

Objective：This study was designed to investigate the difference between executive function of Attention Deficit/Hyperactivity Disorder(ADHD) group and that of neurotics, and to investigate the developmental aspects of ADHD group's executive function. Method：Executive function between ADHD(N=87) and Neurotics(N=19) was evaluated through their performance on the Wisconsin Card Sorting Test. The results were analyzed by 2-way ANOVA and t-test. Results：The results revealed group difference between ADHD and neurotics in total correct reponses, total error responses, nonperseverative errors, number of categories completed, conceptual level responses. There was no significant difference between the performance of 8-12 aged group and 13-15 aged group. But 7-8 aged group showed significantly poor performance than 8-12 aged in total responses, total error responses, perseverative responses, perseverative error responses, nonperseverative error responses. Conclusions：In comparison to the neurotics group, the children of ADHD group are suggested to be lacking the ability to correct their responses according to the external feedback and they probably respond randomly without self-control. However, as there is no difference between perseverative errors and perseverative responses, the interpretation of this finding warrants caution. It also suggests that the developmental aspects should be considered in the studies of executive functions because there are differences in the performance of executive functions by ages.

• Clinical and Experimental Pediatrics
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• v.48 no.7
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• pp.701-705
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• 2005

Purpose : Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their children because of imbalance in genetic information. We intent to analyze the cytogenentic and clinical features about children with maternal balanced translocation between chromosome 15 and 18. Methods : We detected by one family's FISH study of chromosome 15. We have evaluated children born to clinically normal parents about peripheral bood analysis, endocrine, metabolic, radiologic study, electroencephalogram and social & intelligence scale. and We analysis their clinical manifestation by hospital records. Results : Patient's father and elder sister are normal clinically and genetically. Her mother's chromosome show balanced translocation, 46, XX, t(15;18)(p11.2;p11.3). One child has 46, XX, der(18) t(15;18)(p11.2;p11.3), mental retardation, growth retardation, speech & social developmental delay, recurrent infection and mild mitochondria dysfunction. Her young brother has 46, XY, der(15) t(15;18) (p11.2;p11.3), mental retardation, aggressive behavior, obesity and speech developmental delay. Conclusion : In this study we observed the children with developmental delay, dysmorphic facial features, mental retardation, growth retardation associated with growth hormone deficiency and aggressive behavior due to unbalanced translocation between chromosome 15 and 18.

• Clinical and Experimental Pediatrics
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• v.49 no.9
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• pp.1000-1004
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• 2006

Atretic cephalocele is a degenerative form of encephalocele, which is detected as a cystic mass in the head, primarily in infants. Its presentation and prognosis vary and depend on various factors, including the nature of the tissues within the cyst, other concomitant anomalies, the site of development, and the presence or absence of an embryonic straight sinus. We here report 2 cases of atretic encephalocele, that were transferred to our hospital because round tumors, misdiagnosed as dermoid cysts, were detected in their parietal lobes immediately after birth. On diagnostic and differential MRI, an embryonic straight sinus was detected while histochemical results indicated that the lesions contained cerebral tissues. Despite these structural anomalies, the two patients developed normally neurologically and no other anomalies were detected. We here discuss these two cases and present a review of the relevant literature.

• Clinical and Experimental Pediatrics
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• v.46 no.5
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• pp.505-509
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• 2003

Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic work-up revealed hyperuricemia, hyperuricosuria, and medullary nephrolithiasis. The HPRT activity in the erythrocytes was undetectable with a biochemical assay. We also identified de novo mutation which was a deletion of the 649th base, adenosine, in HPRT gene(649delA) by analysis of cDNA using RT-PCR technique coupled with direct sequencing.

• Clinical and Experimental Pediatrics
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• v.51 no.4
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• pp.426-430
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• 2008

We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the subtelomere-specific sequences on chromosome 9p and 9q, revealed 46,XX,r(9)(p24q34),ish r(9)(D9S913-,D9S325+). Failure to detect any hybridization of a probe for the subtelomeric sequences in the ring 9p terminal suggested that this ring arose from breakage in the distal short arm. The cytogenetic and FISH data in our case provided further evidence for the existence of a "complete ring" phenotype with incomplete subtelomeric sequences.

• Journal of The Korean Association of Information Education
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• v.11 no.3
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• pp.329-337
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• 2007

The rapid growth in areas related to IT is bringing about benefits and dysfunctions of informatization and harmful information on the Internet. It exerts evil effects on adolescents' mind and hampers their development of personality. The present study purposed to analyze the state on harmful information on the Internet, and to propose various educational plans for elementary school students. For these purposes, we analyzed the current state of harmful information by reviewing various literatures and previous researches, suggested the definition and types of harmful information based on previous researches in this study. In addition, we analyzed the state on harmful information of elementary school students by making a comparative analysis various researches about the state of harmful information; and based on this, various educational protective plans were suggested for elementary school students, teachers and parents. The proposed educational plan can be used for organizing education curricula of IT ethics, education programs for teachers and parents.

• Journal of The Korean Society of Integrative Medicine
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• v.9 no.4
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• pp.1-9
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• 2021

Purpose : The purpose of this study was to investigate functional disability for the elderly in rural Korea and to identify influencing factors of functional disability. Methods : The data were collected for 76 community-dwelling elderly in rural area and above 65 years. We assessed cognitive function, functional disability, depression using LACLS, WHODAS 2.0, SGDS-K. Data were analyzed using descriptive statistics for general characteristics of subjects, Spearman's correlation among LACLS, SGDS-K, WHODAS 2.0, age, educational levels. And multiple regression was used to find influencing factors of functional disability. Results : As a result of this study, we identified that WHODAS 2.0 total score was 50.59, summary score was 9.94 and functional disability of the elderly in rural area is in the 70^th percentile. The highest level of disability occurred in areas related to 'life activities (household)', 'participation in society' and the lowest level of disability occured in areas of 'self-care', 'getting along with people'. Functional disability was significantly correlated with age (r=.398), cognitive function (r=-.547), depression (r=-.563) but not educational levels (r=-.215). Finally, we confirmed that depression (𝛽=.371), cognitive function (𝛽=-.263), widowed status (𝛽=.303), age (𝛽=.272), non-participation of community program (𝛽=.165) was significantly influencing factors of functional disability and the explanatory power of these factors was 52.80 %. Conclusion : This study revealed important factors of functional disability. Therefore, we need to consider these factors when we developed program related to health for the elderly (aged > 65 years) in rural Korea. Further, we need to standardize WHODAS 2.0 in order to enhance its applicability in clinical practices.

• Journal of the Korean Society of Radiology
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• v.85 no.3
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• pp.531-548
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• 2024

Developmental dysplasia of the hip is a condition characterized by hip joint instability due to acetabular dysplasia in infancy, necessitating precise ultrasound examination. Legg-Calvé-Perthes disease is caused by a temporary disruption in blood flow to the femoral head during childhood, progressing through avascular, fragmentation, re-ossification, and residual stages. Slipped capital femoral epiphysis is a condition where the femoral head shifts medially along the epiphyseal line during adolescence due to stress, such as weight-bearing. Differentiating between transient hip synovitis and septic arthritis may require joint fluid aspiration. Osteomyelitis can be associated with soft tissue edema and osteolysis. When multiple lesions are present, it is essential to distinguish between Langerhans cell histiocytosis and metastatic neuroblastoma. This review will introduce imaging techniques and typical findings for these conditions.

• Clinical and Experimental Pediatrics
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• v.51 no.9
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• pp.964-970
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• 2008

Purpose : Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino acids. The study was undertaken to investigate the genotypes and clinical features of Korean patients with MMA and PA. Methods : This study examined 12 patients with MMA and eight with PA. We analyzed various clinical features, laboratory findings, treatments, and neuro-developmental outcomes. Diagnoses were based on the presence of characteristic compounds detected by amino acid analysis in serum and organic acid analysis in urine. Mutation analysis was performed in the genes of MUT, MMAA, MMAB, and MMACHC for MMA and PCCA and PCCB for PA. Results : Among the 20 patients, six patients were diagnosed before one month of age and nine patients were diagnosed after the newborn period. Five patients were diagnosed via a neonatal screening test. Patients with early-onset forms had more severe illness at presentation and generally poor outcomes. A favorable outcome was obtained in 55% patients; most of them were of a late-onset type or diagnosed by neonatal mass screening test without symptoms. Genotypes were confirmed in all patients with MMA. We detected 11 different mutations by MUT gene analysis in 10 patients, and three different mutations in MMACHC genes in two patients. PCCA and PCCB gene mutations were identified in 14 of the 16 alleles, in eight patients with PA. Conclusion : Organic aciduria is a fatal disease; however, better outcomes are expected whenever early diagnosis and prompt management are made possible. Mutation analysis is useful for confirming diagnoses and planning management strategies.

• 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.