• The Journal of Pediatrics of Korean Medicine
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• v.26 no.4
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• pp.61-70
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• 2012

Objectives: Literature Study of clinical cases with Traditional Chinese Medicine (TCM) as reference for Korean medicine based treatment of juvenile patients with Down's syndrome. Methods: 4 TCM journals with the highest impact factors were searched and selected among the journals listed in www.cnki.net. The search keywords were "蒙古症", "唐氏症(産生唐氏症)", "唐氏症候群", "先天愚型", "伸舌樣痴呆", "21三体綜合徵", "三染色体症", "Down's syndrome", and "Mongolism". Accordingly, searched papers were analyzed. Results: Total 6 studies were selected: RCT(5), case report(1). Among the RCT related studies, 2 studies tested the effect of Electroacupuncture (電鍼), 1 study tested the effect of Electroacupuncture and Pharmacopuncture (藥鍼) treatment together, and 2 studies tested the effect of Electroacupuncture and Herbal Medicines (藥物) co-treatment. In all the studies, the study groups showed significantly improved intelligence quotient (IQ) in comparison with the control groups. The case report showed improvement of cognitive ability and other clinical parameters as a result of Acupuncture (鍼) and Herbal Medicines co-treatment in juvenile patients with Down's syndrome. Conclusions: Clinical studies testing the effect of TCM for the treatment of Down's syndrome have been conducted in small scales, and all the studies showed a certain level of brain function improvement of the patients in the study groups. These results implicate that the methods in Korean medicine can be highly potential treatment options for the treatment of Down's syndrome. Conduction of accurate and well-controlled studies in large scale would be required to prove the effect of Korean medicine for the treatment of patients with Down's syndrome.

• Phonetics and Speech Sciences
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• v.9 no.2
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• pp.125-135
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• 2017

The current study examines PCC (percentage of correct consonant), speech intelligibility, and oral motor function between the group of typically developing children and the group of children with Down's syndrome. To 15 children with Down's syndrome (mean CA: 9;7) and 15 typically developing children on receptive language age, the following tests were administered: K-WPPSI (2001), Picture Vocabulary Test (Kim et al., 1995), Oral and Speech Motor Control Protocol for total oral functional score (Robbins et al., 1987), DDK and Assessment of Phonology and Articulation for Children (APAC, Kim et al., 2007) for PCC and speech intelligibility. Pearson correlation coefficients were computed for the total oral functional score, PCC and DDK of each group. The statistical analysis showed that there is no significant difference in total functional score and DDK when IQ was controlled. There was a significant correlation between total oral functional score and PCC in the Down's syndrome group and a significant correlation between total oral functional score and intelligibility in the Down's syndrome group whether IQ was controlled or not. The findings suggest that both cognitive ability and overall oral motor function need to be considered for the intervention to enhance PCC or speech intelligibility of children with Down's syndrome.

• Journal of Korean Clinical Nursing Research
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• v.14 no.2
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• pp.19-29
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• 2008

Purpose: The purpose of this study was to explore mothers' adjustments in raising children with Down syndrome and to develop a grounded theory about their adjustments. Method: Three mothers from each group of children in the ages below 7 years, 8-13 years, 14-19 years, and over 20 years participated in the study. Data were collected through an in-depth interview from twelve participants having a child with Down syndrome. Then it was analyzed simultaneously using the grounded theory method. Results: 'Adjustment of mother's expectation according to child's status' was emerged as a core category. The adjustment process was categorized into five stages: shocking, embracing, doing one's best with passion, lowering anticipation, and accepting another living. Conclusion: Being the mother of a child with Down syndrome is not considered to be a negative experience. There are positive experiences along with some more negative ones. Nurses working with families that include children with Down syndrome need to be aware of the obstacles the families will face and should advise necessary support.

• Clinical and Experimental Reproductive Medicine
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• v.13 no.2
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• pp.145-151
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• 1986

The purpose of this study is to investigate the cytogenetic characteristics of Down's syndrome in Korea. For this study, selected were 92 patients who were diagnosed as Down's syndrome by the chromosomal analyses, among 115 patients who were supected of Down's syndrome and referred to the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University, for 2 years from January 1984 to December 1985. Among 92 patients with Down's syndrome 83 (90.2%) had G-trisomy, 4 (4.3%) had translocation, and 2 (2.2%) had mosaicism of normal and G-trisomic cell lines. Two patients of the remaining 3 had both G-trisomic and translocation, 47, XX, t (1:21) (p32:q22), +21, 47, XX, t (9:11) (q34:q14), +21. The remaining 1 patient had 47, XY, +mar.

• Clinical and Experimental Reproductive Medicine
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• v.24 no.2
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• pp.199-210
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• 1997

A study has been carried out to elucidate the cytogenetic characteristics of Down's syndrome in Korea. This study includes 877 cases which were diagnosed as Down's syndrome by the chromosomal analyses at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 13 years from January, 1984 to December, 1996. 1. 83.6% of cases were diagnosed under 1 year of age and 10.9% were between 1 and 4 years old. The overall sex ratio was 3 to 2 (male to female). 2. The most frequent indication for cytogenetic analyses was suspicion of Down's syndrome. The next were growth retardation, congenital heart diseases, congenital anomalies. 3. 88.4% of cases had free trisomy 21. In 6.5%, there was translocation, mostly Robertsonian t(14;21) or t(21;21). 3.9% of cases were mosaics mostly with one normal cell line. 4. Karyotyping was also performed in 204 parents of patients. 6 parents (2.9%) were seen to be translocation carriers of Down's syndrome. We find the unique features of Down's syndrome in Korea that the incidences of free trisomy 21 is relatively lower and that translocation is higher than western countries.

• Journal of Life Science
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• v.9 no.6
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• pp.639-645
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• 1999

This research was for investigating the physiological effect caused by genetic disorder and others. Serum protein, serum LDH, and serum CPK were analyzed on Fragile X syndrome patients, carriers, unclassified mental retardees, and Down's syndrome patients by cellulose acetate plate electrophoresis. Also enzyme activity of LDH and CPK were measured. Significant differences were observed between normal group and mental retardees in compositions of serum protein, serum LDH, serum CPK, and enzyme activities. Mean percentages of albumin were 53.70$\pm$7.73% for Fragile X syndrome patients, 57.09$\pm$7.73% for carriers, 47.33$\pm$6.06% for unclassified mental retardees, 50.19$\pm$ 15.72% for Down's syndrome patients. Mean percentages of ${\gamma}$-globulin were 19.64$\pm$6.71% for Fragile X syndrome patients, 19.24$\pm$3.38% for carries, 25.66$\pm$4.74 for unclassified mental retardees, 23.41$\pm$6.08% for Down's syndrome patients. Mean percentages of LDH3 were 27.76$\pm$2.72% for Fragile X syndrome patients, 22.70$\pm$2.76% for carriers, 25.42$\pm$1.26% for unclassified mental retardees, 27.72$\pm$2.58% for Down's syndrome patients. Mean percentages of LDH4 were 2.70$\pm$2.04 for Fragile X syndrome patients, 3.79$\pm$2.74% for carriers, so both of them were significantly lower than normal(P<0.05). Mean percentages of CK-MB were 3.96$\pm$5.56% for Fragile X syndrome patients, 8.80$\pm$7.92%. Mean percentages of CK-MM were 95.81$\pm$5.50% for Fragile X syndrome patients, 91.20$\pm$7.92% for carriers. These results showed that significant abnormal compositions of blood proteins might be caused by genetic disorder. However, further analysis of many patients will be needed for clear conclusion.

• Korean Journal of Applied Biomechanics
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• v.29 no.3
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• pp.137-143
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• 2019

Objective: Ligament laxity and hypotonia are characteristics of Down syndrome patients. The aim of this study was to compare the landing pattern between Down syndrome patients and typically developing subjects. To compare the landing pattern, variables related to ligament laxity and hypotonia i.e. vertical stiffness and lower extremities kinematics were investigated. Method: Five subjects with Down syndrome (age: $14.6{\pm}1.8years$, mass: $47.6{\pm}6.94kg$, height: $147.9{\pm}6.0cm$) and six able-bodied subjects (age: $13.2{\pm}0.4years$, mass: $54.7{\pm}6.7kg$, height: $160.1{\pm}9.8cm$) participated in this study. Results: The vertical displacement of the center of mass, vertical reaction force, leg stiffness and range of ankle angle range among Down syndrome patients were significantly different than typically developing group. The youth with Down's syndrome appeared to receive greater vertical impact force at landing than normal youth. Conclusion: The differences in the biomechanical characteristics suggest the delay in motor development among Down syndrome patients and an increased risk of injury to the lower extremity during movement execution such as drop landing.

• Journal of Convergence for Information Technology
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• v.10 no.8
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• pp.213-222
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• 2020

This research aimed to verify whether family competency reinforcement had a mediating role on the effect of family cohesion of the Down syndrome family upon the independent life of children with Down syndrome. For the research, 146 families belonged to Down Syndrome Parent Assembly were surveyed and the statistical program SPSS WIN 25.0 was utilized for the data analysis. To verify the mediating effect, Baron and Kenny's causal step strategy was performed. As a result of the study, the higher the family cohesion of the Down syndrome family was, the greater the level of independence of the child was, indicating that the family cohesion had a significant static effect on the independence life. In addition, it was confirmed that the family competency reinforcement played a mediating role between the family cohesion and the children's independent living. Therefore, the results of this research suggested that it might be used as a policy approach and supporting plan for the realization of support for independence of Down syndrome children.

• Korean Journal of Health Education and Promotion
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• v.15 no.1
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• pp.97-114
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• 1998

This study's purpose is to clarify the growth pattern of Down Syndrome cases -particulary centering on the adolescent growth pattern - and to draw up a standard growth chart on body height and weight which is one estimation of physical growth for the effective caring of their health. I sampled 269 Down syndrome cases (Male 151, Female 118) whose ages ranged from 6 years of age to adulthood and 348 normal control cases (Male 175, Female 173) who were in same age group with Down Syndrome. We also picked 124 Down syndromes cases(Male 70, Female 54) and gathered 8 year longitudinal data on their body height and weight. The results were that, I found Down syndrome cases' height to be short and their weight to be overweight. As far as age at peak height velocity was concerned, boys were at 11-12 years of age and girls were at 10-11 years of age, showing that girls were about one year faster. Peak height velocity was 6.8cm/yr for boys and 5.4cm/yr for girls. The age at peak weight velocity were 12-13 years for age for boys and 10-11 years of age for girls. Peak weight velocity was 5.7kg/yr for boys and 4.3kg/yr for girls. The menarche age of girls with Down syndrome was anticipated to come about 2 years after peak height velocity and peak weight velocity. Finally, we drew up a standard growth chart and compared it with that of the NCHS, which caused us to come to the conclusion that the Standard Growth Chart for Down syndrome cases in Korea that came out of this study was appropriate for the growth-assesment of Down syndrome.

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.7-14
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• 2008

Twenty years have passed since a prenatal screening for Down syndrome and neural tube defect was applied to obstetric field. The Quad test (AFP, hCG, uE3, Inhibin-A) of the second trimester and the combination test (PAPP-A, hCG, NT) of the first trimester became popular now. The recent trend of prenatal screening is to combine these two screening tests together in order to increase a detection rate of Down syndrome. Three types of screening methods are introduced as follows; integrated test, sequential test and contingent test. In addition to combination of each test, an incorporation of characteristic ultrasound findings of Down syndrome is suggested for its risk calculation. The absence of fetal nasal bone would be a very useful marker especially in the first trimester screening test. According to a change of way calculating risk of Down syndrome, obstetrician's role will be more increased not by passive participation, but by active participation using ultrasound in risk calculation.