• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.7 no.1
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• pp.92-109
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• 1996

The objectives of the present study were to provide comprehensive assessment of the impact of epilepsy on the psychological well-being of children with epilepsy and to identify the neurological factors associated with the psychopathology. The participant patients were recruited from the population of children and adolescent aged 7 to 16 attending the OPD of department of pediatric neurology in Seoul National University Hospital in Korea. We exclude mental retardation, pervasive developmental disorder and brain organic pathology. As control group, formal students were chosen and their sex, age, achievement, socioeconomic status were matched to patients. The first author interviewed the children and their family members and obtained the developmental history and family information. We used the following 10 scales for assessing psychological and behavioral problems in patients and their family member. The scales were standardized and their validity and reliability were confirmed before. Parent rating scales : Yale children's inventory, Disruptive behavior disorder scale, Parent's attitude to epilepsy questionnaire, Family environment scale, Symptom check-list-90 revision, Children behavior check-list. Children's self rating scales : Children's depression inventory, Spielberger's state-trait anxiety anxiety, Piers-Harris self-concept inventory and Self-administered Dependency questionnaire for Mother. The result showed the risk factors associated depression were early onset, complex partial seizure, lateralized temporal focal abnormality on EEG, Drug polypharmacy, high seizure frequency and sick factors associated anxiety were old age of patient, lateralized temporal focal abnormality EEG, Drug polypharmacy, high seizure frequency. Also the result of this present study indicated that risk factors associated oppositional defiant disorder, conduct disorder and attention deficit hyperactivity disorder were young age, male, early onset, lateral temporal EEG abnormality and high seizure frequency. According to these results, common risk factors associated psychological and behavioral problems were lateralized EEG temporal abnormality, high seizure frequency in neurological factors.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.133-141
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• 2007

Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.6 no.1
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• pp.74-89
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• 1995

Selective mutism is a childhood condition defined by persisten failure to speak in specific social situation when speaking is expected, dispite preserved ability to comprehend spoken language and speak. Present study is to investigate clinical characteristics, treatment method and outcome of 23 children who were diagnosed as selective mutism by DSM-IV criteria at the child psychiatry ouptatient department of SNUH. The results were as follows : 1) The Sex ratio was 1: 4.8, female dominant Mear age of onset was 33 years old and mean age of first referral was 7.7 years old. 2) 22% of subjects had perinatal problem such as low birth weight, preterm birth, 26% of the subjects have history of delayed language development. There are subjects who had been separated with mam caretaker before 3 years old(26%) and who experienced physical or psychological trauma before 3 years old(26%). A few subjects had enurests(30%) and encoprests(4%). 3) Many subjects(65%) had symbiotic relationship with their mother. These families consist of dominant, verbally aggressive mother and passive father. Parents of 39% of all subjects were judged to have definite psychopathology(social phobic, depression, hysterical trait or alcohol problem) 26% of all subject, were reported physically abused. 4) The personality trait of the subjects were frequently described as follows(in order of frequency) ; Shy(100%), anxious(83%), stubborn(83%)m rigid and tense posture(78%), immature(65%) overdependent(65%), irritable(52%), manipulative(39%), depressive(39%). 5) The mean performance IQ of 16 subjects by KEDI-WISC was 88.3 Among them, the subjects with IQ below 69 were seven and those with IQ above 70 were nine. When comparing these two group(Mental retardation group vs Normal IQ group), we could find some difference in language development, personality trait, family dynamics and treatment outcome. 6) Among several treatment methods for selective mutism, play therapy was the most frequently used method(65%). Other commonly used treatment methods were pharmacotherapy(21%), behavioral therapy(8%), combined therapy(play therapy+pharmacotherapy+family therapy+behavioral therapy)(12%), 7) Regarding the outcome of treatment 8.6% was evaluated as Excellent, 30.4% as Good, 52% as Fair, 8.7% as Poor at the tinic of treatment. At follow up interview 21.7% was evaluated Excellent, 13% as Good, 21.7% as Fair, 34.8% as Poor. 8) We classified all subjects by Havden's 4 subtype. Symbiotic mutism was most common(65%) and other subtypes are Speech phobic mutism(8.6), Reactive mutism(13%) and Passive-aggressive mutism(30%).

• Korean Journal of Poultry Science
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• v.36 no.3
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• pp.207-213
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• 2009

Adenylosuccinate lyase (ADSL) deficiency is a disease of purine metabolism which affects patients both biochemicall and behaviorally. An obstacle of this purine nucleotide cycle(PNC) can be caused brain functional disorder and growth disorder. So ADSL deficiency, which is associated with sever mental retardation, autistic features and energy metabolism. This study was performed to identify SNP on ADSL gene in chicken. The nucleotides were observed as T to C ($7724^{th}$ nucleotide), C to T ($7732^{nd}$ nucleotide), G to T ($10108^{th}$ nucleotide), A to T ($10356^{th}$ nucleotide), G to A($10375^{th}$ nucleotide), A to C ($10402^{nd}$ nucleotide), A to T ($12716^{th}$ nucleotide), T to A ($12717^{th}$ nucleotide), C to T ($15491^{st}$ nucleotide), C to T ($15542^{nd}$ nucleotide) and C to T ($15550^{th}$ nucleotide). The nucleotide substitutions at $15542^{nd}$ and $15550^{th}$ (GeneBank accession no. AY665559) were found as missense mutation (alanine$\rightarrow$valine, proline$\rightarrow$serine, respectively). This study will be useful for farther researches for identifying association between these SNPs and energy metabolism in chicken. The C15550T SNP showed three genotypes, CC, CT, TT by digestion with the genotype TT had significantly faster the first lay day (150.0) than CT (162.0, P<0.05) and genotype TT (150.0, P<0.05) had significantly higher the egg production rate than CT (172.4, P<0.05). According to result of this study, a C15550T was found to have a significantly effect first lay day and mean egg production. It will be possible to use SNP marker on selecting chicken to improve important economic traits, which is the first lay day and mean egg production.

• Clinical and Experimental Pediatrics
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• v.51 no.3
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• pp.315-322
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• 2008

Purpose : Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by the deletion of the paternally derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). In this study, we compared phenotypic differences between those patients whose disease was caused by microdeletion and those caused by mUPD(15). In addition, a comparison of the efficacy of growth hormone (GH) therapy between these two PWS genotypes was analyzed. Methods : Fifty-three patients were diagnosed as having PWS based on molecular and cytogenetic analyses and clinical features. Data that included maternal age, birth weight, a feeding problem in the neonatal period, cryptorchidism, developmental delay or mental retardation, short stature, hypopigmentation, changes in height, weight, and body mass indexes (BMI) before and after GH treatment were obtained by a retrospective review of medical records. The data from the patients with microdeletion were compared with those from the patients with mUPD(15). Results : Of the 53 patients with genetically confirmed PWS, 39 cases had microdeletion and 14 mUPD(15). Maternal ages were significantly higher in the mUPD(15) group, and hypopigmentation and a feeding problem in the neonatal period were more frequent in the microdeletion group. Growth hormone was administered to 20 patients [14 with microdeletion, 6 with mUPD(15)]. There were no differences between the two groups in height velocity, weight and height SDS, and BMI after GH therapy. Conclusion : Phenotype and genotype correlations were observed in Korean PWS patients, such as more advanced maternal ages in the mUPD(15) group and more feeding problems and hypopigmentations in the microdeletion group. Further long-term prospective studies are needed to correlate other aspects of the phenotypes.

• Clinical and Experimental Pediatrics
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• v.48 no.10
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• pp.1132-1138
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• 2005

Purpose : The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and radiological features in Korean MPS children. Methods : Diagnosis of MPS was confirmed by skin fibroblast enzyme analysis in 80 patients between February 1995 and December 2004. Charts were retrospectively reviewed for clinical and radiological findings, as well as for intelligence and speech evaluations. Results : Hunter syndrome (MPS type II) was the most prevalent type, appearing in 51/80 cases (64 %), followed by Sanfilippo syndrome (MPS III-18%), Hurler syndrome (MPS I-15%), and Morquio syndrome (MPS IV-4%). The average age at diagnosis was 5.5 years (range 1 to 20), and the male-to-female ratio was 4.7 : 1. Typical radiographic changes were observed in 45/54 cases (83%). Mitral regurgitation was the most common cardiac defect. Moderate to profound mental retardation and hearing loss were present in 14/35 cases (56%) and 33/38 cases (82%), respectively. Four MPS II patients had bone marrow transplantation, with mixed outcomes. Five MPS I patients are currently on enzyme replacement therapy. Conclusion : Our study showed a high proportion of MPS II cases (64%), which may represent population variability. By studying the clinical features of these patients, we hope to alert pediatricians of the warning signs of MPS.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.311-319
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• 2002

Purpose : We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. Methods : We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental & growth retardation were included. Results : The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations( 78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. Conclusion : It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.8 no.1
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• pp.34-42
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• 1997

Enuresis is repeated involuntary or intentional voiding of urine into bed or clothes over age 5. Though it would be a self-remitting disorder, it could be serious problem in emotional and socio-adaptational aspects. The author reviewed the enuretic patients of Child & Adolescence psychiatric section in Chungnam National University Hospital during past 3 years. 46(4.9%) of 936 patients were diagnosed as enuresis in DSM-Ⅳ. The author evaluated their comorbidity by the data of diagnostic review made in two psychiatrists, and emotional aspects(self-concept, anxiety, depression) through the self-rating scales (Piers-Harris children’ self concept scales, RCMAS, state-trait anxiety inventory for children, child’s depresson inventory). Thirty(65.2%) of the 46 enuretic patients had additional diagnoses such as attention deficit hyperactive disorder, mental retardation, encopresis, oppositional defiant disorder, depression, anxiety disorder, autism, somatoform disorder, tic disorder, obsessive-compulsive disorder, sleep disorder, etc. Sixteen enuretic patients had at least one comorbid disorder. Eleven patients had two, and three patients had more than three. Fourteen of 46 enuretic patients were evaluated through self-rating scales of self-concept, anxiety and depression. But we couldn’t obtain meaningful results. Maybe it was due to the small sample size(N＝14) and the influence of the comorbid disorders. Finally, it was an impressive evidence that there exist many comorbid disorders in enuresis(esp. attention deifict/hyperactive disorder). In emotional aspects, the author thought that further evaluation should be needed for more meaningful results.

• Journal of the korean academy of Pediatric Dentistry
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• v.34 no.2
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• pp.292-298
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• 2007

In order to thoroughly understand change patterns and to set up an appropriate approach the direction of future treatment towards children in Chonbuk area, we carried out this research. we could draw below conclusions from the studies based on researches of distribution of new patients visited Dept. of Pediatric Dentistry, Chonbuk Nat' university from 1998 to 2005 and current changes in dental treatment. 1. There was an increase in the number of patients until 2004 but it decreased in 2005. Boys took higher portion. 2. Number of patients increased during school holidays. 3. 97.7% of patients were urbanites. 4. An age group from 31 months to 6 years showing 48.2% was the highest, each percentage of $7{\sim}13$ years, $13{\sim}30$ months showed 31.3%, 17.2%. 5. 33.8% of patients were referred from local dental clinics and among them, an age group from 31 months to 6 years showing 49.5% was the highest, each percentage of $7{\sim}13$ years, $13{\sim}30$ months showed 35.2%, 12.9%. 6, 5.5% of patients who had systemic diseases, among them, each percentage of cardiovascular disease, mental retardation, respiratory disease showed 21.8%, 13.6%, and 11.0%. 7. According to the distribution of chief complaints, dental caries showing 42.9% was the highest. 8. Root canal treatment, restoration, prosthesis showing 42.6% were the highest of all treatments.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.119-124
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• 2008

Purpose: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of this study was to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphisms and fetal aneuploidy. Materials and Methods: Data was collected from 37 women who had a fetus with aneuploidy (cases) and 78 women who had previously delivered at least two healthy children without aneuploidy and did not have a history of miscarriage or abnormal pregnancy (controls). The MTHFR (C677T) or MTRR (A66G) polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. Results: The frequencies of the MTHFR 677 CC, CT, and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in genotype frequencies between the two groups. For the MTRR A66G polymorphism, the frequencies of the AA, AG and GG genotypes were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1%, and 5.4% in case group, respectively. The frequency of the MTRR AG mutant was significantly increased in the case group, with an odds ratio of 6.5 (95% CI: 2.3-18.6, P<0.05). Conclusion: The results of this study suggest that mother carriers with the MTRR G allele have an increased risk of fetal aneuploidy, while the MTHFR T allele is not associated with increased risk of fetal aneuploidy. The MTRR A66G polymorphism may be a risk factor for producing a child with chromosomal aneuploidy.