• Journal of Genetic Medicine
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• 제4권1호
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• pp.64-71
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• 2007

목 적 : 다운증후군과 에드워드증후군의 빠른 진단에 있어 FISH 검사의 임상적 유용성과 한계성을 보고하고자 한다. 방 법 : 유전질환이 의심되는 고위험임신 309예에서 양수 검사를 통해 미배양 양수세포에서 18번과 21번 염색체의 probes를 이용한 FISH 검사를 시행하고 이들의 결과를 염색체 핵형분석 결과와 비교하였다. 결 과 : 평균연령은 34.18세, 평균임신주수는 18주(126.12 일)의 309예에서 FISH 검사는 모두 성공하였다. 각각 1예씩의 다운증후군과 에드워드증후군이 FISH로 신속한 진단이 가능했으며 이들은 염색체 핵형 검사에서 확인하였다. 그러나 18번과 21번 이외의 염색체의 이수성과 구조적 이상은 발견하지 못했는데 모두 12예(3.9%)로 상당부분을 차지했다. 앞으로 산전 선별검사에 있어 FISH검사과정의 자동화 기계화로 더 시간을 단축하고 가격을 낮추는 방안이 계속 개발되어야 할 것이다.

• 가정과삶의질연구
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• 제34권4호
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• pp.89-109
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• 2016

The purposes of this study were to analyze and understand the life of mothers rearing children with Down syndrome and to present basic data for overcoming the difficulties of those families. For these purposes, this study made use of the phenomenological analysis and approach with a qualitative research method. The subjects of this study are 4 mothers rearing children with Down syndrome who are beyond school age. The results were as follows. First, the reason why mothers with Down syndrome children went through psychological shock and horror was the social stigma due to the unusual appearance of children with Down syndrome. Second, the isolation with in the public education system was disclosed as a factor causing much sorrow and pain. Through this, we can recognize the importance of ensuring the equal right to receive education of children with Down syndrome. Third, the period which the mother experienced most shock and confusion was right after finding out about the disability that her child has. So, we can identify the importance of early intervention providing psychotherapy and rearing service to the parents. Fourth, the crucial factor that relieved pain and pressure from mothers was social support including family. Therefore, the social support system for mothers with Down syndrome children has to be developed and strengthened. Fifth, the crucial factor that made mother grow up during rearing experience was the reestablishment of cognition about the desired role of mothers. Through this, we can identify the importance of the mental transition process to independent thinking.

• 음성과학
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• 제15권3호
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• pp.79-94
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• 2008

The purpose of this study was to compare phonological awareness ability of students with Down Syndrome(DS) and typically developing children(TD). TD and DS were equal the reading abilities(reading recognition). The subject were 10 DS and 10 TD, and were examined by test of phonological awareness. The test of phonological awareness was composed according to phonological units(word, syllable, phoneme) and task types(deletion, discrimination, blending). The results obtained in this study were as follows: The total score of phonological awareness ability of DS were significantly lower than TD. And the score of phonological awareness ability according to phonological units and task types were significantly lower than TD. But both DS and TD performed better on phonological deletion and blending task than discrimination. TD and DS represented different correlation between task types and phonological units. This means that TD performed better on all types of tasks and phonological units than DS.

• The Journal of Korean Physical Therapy
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• 제13권3호
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• pp.701-710
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• 2001

The purpose of study was to compare the effect of balance performance in the Down syndrome child by the Sensorimotor program. Twenty-four aged 8 to 16 years participated in this study. Participants were divided into experimental(12) and control group(12). Experimental group were received sensorimotor program in three times a week for 6 weeks. But control group were not participants this program. All subjects were assessmented to clinical test such as Oseretsky and Berg balance test. Experimental and control subjects were tested before, after and end(after summer vacation)of the trial. The results were as follow; 1. The physique of Down syndrome child is more dropped than normal child. 2. Balance of Down syndrome child prior to test is clearly dropped. but effect of Sensorimotor program is appeared in experimental group. 3. Balance of experimental group is more decreased than prior to during the summer vacation.

• 한국동물학회지
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• 제30권4호
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• pp.371-378
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• 1987

The fractions of serum proteins, the levels of serum immunoglobulins and the positive rate of HBs Ag were investigated in Korean patients with Down's syndrome. Mean concentrations (g/dl) of serum protein, albumin, a1,-globulin fraction, a2-globulin fraction, $\beta$-globulin fraction and Y-globulin fraction were 7.80$\pm$1.44, 3.89$\pm$0.74, 0.26$\pm$0.09, 0.80$\pm$0. 18, 1.00토0.29 and 1.85$\pm$0.64, respectively. Mean concentrations(mg/dl) of IgG, IgA and IgM were 1,682.17$\pm$600.26, 247.39$\pm$180.86 and 170.87$\pm$79.90, respectively. The positive rate of HBs Ag was 21.74% These results revealed higher levels of Y-globulin fraction, IgG and positive rate of HBs Ag in patients with Down's syndrome than in normal population.

• 대한장애인치과학회지
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• 제13권2호
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• pp.95-98
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• 2017

본 증례는 다운 증후군이 있는 환자의 구강 재건 시 CAD/CAM 시스템 사용의 이점을 모색해보았다. 다운 증후군 환자들의 경우, 보철물 파절의 위험성이 크며 불가피하게 보철물을 재제작할 경우, CAD/CAM 시스템의 기존 데이터를 이용하여 최소한의 기공 과정만 진행하여 보철물을 빠른 시일 내에 재제작할 수 있다. 결과적으로 이는 심미적 및 기능적 개선을 통해 삶의 질을 높일 수 있는 보철물 제작 시 환자의 불편감과 치과의사의 노력을 최소화하는 방법이다.

• 대한물리의학회지
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• 제7권1호
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• pp.21-28
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• 2012

Purpose : The purpose of this study was to examine the gait parameter and plantar foot pressure of adults with Down syndrome(DS) during walking in order to provide data for developing evidence-based deficit or common rehabilitation strategies. Method : 15 participants with DS(12 men, 3 women; age $26.06{\pm}4.47$) and 15 healthy subjects(12 men, 3 women; age $25.33{\pm}3.43$) were matched age. They walked at self selected speeds on a GAITRite system and RS-scan system, and had the following measurements done: cadence, stride length, step width, foot angle, percent stance, percent double support, and plantar foot pressure in 10 areas of the foot. Results : In comparison of gait parameter(cadence, stride length, step width, foot angle, percent stance, and percent double support) between adults with DS and healthy subjects, there was significant differences(p<.05). Regarding plantar foot pressure during gait with or without DS, there were statisically significant differences in the area of Toes 1-5, Metatasal 1-4, Midfoot, and Heel(Medial and lateral)(p<.05). Conclusion : Our data show that DS walk with a less physiolosical gait pattern and plantar foot pressure than healthy subjects. Based on our results, DS patients need targeted rehabilitation and exercise strategies.

• 한국운동역학회지
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• 제16권4호
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• pp.73-81
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• 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.

• 대한통합의학회지
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• 제6권4호
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• pp.127-137
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• 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.

• 한국운동역학회지
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• 제29권3호
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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.