• 한국운동역학회지
• /
• 제16권4호
• /
• pp.73-81
• /
• 2006

The purpose of this study was to investigate the effects of strength training on knee joint torque during walking in an adolescent with trisomy-21 Down syndrome. One adolescent with Down syndrome and one normal child participated in this study. Strength training consisted of eight exercises: squat, hamstring curl, hip adduction, hip abduction, knee extension, toe raise, sit-ups, and hyperextension of the waist. The participant with Down syndrome was participated in strength training for 12 weeks, three times a week, three sets, 10-15 RM; resistance was adjusted according to the principle of progressive overload. To measure the effect of strength training, isokinetic strength variables and knee joint torques were measured before training and after 12 weeks of training. The participant with Down syndrome had some abnormalities in controlling knee motion during walking due to muscle hypotonia, ligament laxity, and weakness of muscles. Post-training isokinetic strength increased compared to pre-training measurements. Knee range of motion were increased after strength training. Strength training did not affect ad/adduction and in/exteranl moments but did have an effect on flexor/extensor moment and timing.

• Clinical and Experimental Reproductive Medicine
• /
• 제13권2호
• /
• pp.145-151
• /
• 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.

• 생명과학회지
• /
• 제9권6호
• /
• pp.639-645
• /
• 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.

• 수산해양교육연구
• /
• 제19권1호
• /
• pp.91-100
• /
• 2007

The purpose of this study was to compare personality existed in the populations of the mentally retarded with and without Down syndrome. For this purpose, two research questions were proposed. (a) Is there any difference of personality existed between two groups? (b) Is there any difference of sub-personality existed between two groups by disability degree? Participants in this are 159 people with mental retardation(the mentally retarded with Down syndrom: 82, the mentally retarded without Down syndrom : 77) in P and S cities. First of all, the reliability in measurement instrument was verified through a pre-study. For the first research question, t-test was used. And two way ANOVA was used to investigate the second research question. The results of this study were as follows:First, according to the result of t-test, there were significant differences of personality scores between two groups. And there were significant differences between the mentally retarded with and without Down syndrome regard to expectation of success, outerdirectedness, positive or negative responding tendency, curiosity among sub-personality factors. Second, the result of the two way ANOVA analysis, no meaningful statistically difference in personality by degree of the impairment. But It showed difference regard to effectancy motivation, expectation of success, curiosity among sub-personality factors between the mentally retarded with and without Down syndrome by impairment degree.

• 융합정보논문지
• /
• 제10권8호
• /
• pp.213-222
• /
• 2020

본 연구는 다운중후군 가족의 가족응집성이 다운증후군 자녀들의 자립생활에 미치는 영향에 가족역량강화가 매개역할이 있는지 검증하고자 하는 목적이 있다. 본 연구는 다운증후군 부모회 가족 146명을 대상으로 설문조사를 실시하였으며, 자료분석은 통계프로그램 SPSS WIN 25.0을 활용하였다. 매개효과를 검증하기 위해, 바론과 케니가 제안한 위계적 회귀분석을 실시하였다. 연구결과 다운증후군 가족의 가족응집성이 높을수록 자녀의 자립생활수준이 높게 나타나 가족응집성은 자립생활에 유의미한 정적 영향을 미치는 것을 확인하였다. 또한 가족응집성과 자녀의 자립생활 사이에서 가족역량강화가 매개 역할을 하고 있음이 도출되었다. 따라서 본 연구결과는 다운증후군 자녀의 자립지원 실현에 대한 정책적 접근 및 지원방안에 활용될 수 있음을 시사한다.

• Clinical and Experimental Reproductive Medicine
• /
• 제24권2호
• /
• pp.199-210
• /
• 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.

• BMB Reports
• /
• 제42권1호
• /
• pp.6-15
• /
• 2009

The most common genetic disorder Down syndrome (DS) displays various developmental defects including mental retardation, learning and memory deficit, the early onset of Alzheimer's disease (AD), congenital heart disease, and craniofacial abnormalities. Those characteristics result from the extra-genes located in the specific region called 'Down syndrome critical region (DSCR)' in human chromosome 21. In this review, we summarized the recent findings of the DYRK1A and RCAN1 genes, which are located on DSCR and thought to be closely associated with the typical features of DS patients, and their implication to the pathogenesis of neural defects in DS. DYRK1A phosphorylates several transcriptional factors, such as CREB and NFAT, endocytic complex proteins, and AD-linked gene products. Meanwhile, RCAN1 is an endogenous inhibitor of calcineurin A, and its unbalanced activity is thought to cause major neuronal and/or non-neuronal malfunction in DS and AD. Interestingly, they both contribute to the learning and memory deficit, altered synaptic plasticity, impaired cell cycle regulation, and AD-like neuropathology in DS. By understanding their biochemical, functional and physiological roles, we hope to get important molecular basis of DS pathology, which would consequently lead to the basis to develop the possible therapeutic tools for the neural defects in DS.

• 대한통합의학회지
• /
• 제6권4호
• /
• pp.127-137
• /
• 2018

Purpose : The purpose of this study has been performed to find the effect of horseback riding simulation training on the thickness of abdominal muscles and functional balance in children with down syndrome. Methods : This study included 10 children with down syndrome aged between 7 and 13 years. Both groups received regular neurodevelopmental treatment, also experimental group was performed for additional 15 minutes horseback riding simulation training for twice a week during 8 weeks. We measured the thickness of abdominal muscles by using ultrasonography and measured of functional balance by using Pediatric Berg's Balance for the subjects agreed to the before, after 4 weeks and 8 weeks the training. Results : There were no significant difference in the thickness of the internal oblique and external oblique muscles. There were significant difference in transverse abdominis thickness and functional balance that experimental group had increased average than control group after 4 weeks and 8 weeks training Conclusion : Horseback riding simulation training has a positive effect on the improvement of transverse abdominis muscle thickness and functional balance in children with down syndrome.

• 대한정형외과학회지
• /
• 제56권2호
• /
• pp.164-167
• /
• 2021

다운증후군은 가장 흔하게 발생하는 염색체 이상 질환으로 일생 동안 약 28%에서 고관절의 골관절염을 동반하게 된다. 다운증후군에서 수술적 치료를 시행하게 될 경우에 의학적 관점에 더불어 환자의 정신적, 경제적인 요건 및 사회적 환경까지 고려하는 포괄적 접근이 필요하다. 청소년기 다운증후군에서 발생한 중증 고관절 골관절염에 대해 고관절 유합술을 시행하여 좋은 결과를 보여 보고하는 바이다.

• Journal of Genetic Medicine
• /
• 제5권1호
• /
• pp.7-14
• /
• 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.