• 임상간호연구
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• 제14권2호
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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 Pediatrics
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• 제56권12호
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• pp.540-544
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• 2013

Down syndrome, the most common chromosomal abnormality, may be associated with various neurologic complications such as moyamoya syndrome, cervical spinal cord compression due to atlantoaxial subluxation, and basal ganglia damage, as well as epileptic seizures and stroke. Many cases of Down syndrome accompanied by isolated neurologic manifestations have been reported in children; however, Down syndrome with multiple neurologic conditions is rare. Here, we have reported a case of Down syndrome in a 10-year-old girl who presented with asymptomatic moyamoya syndrome, atlantoaxial subluxation with spinal cord compression, and basal ganglia calcification. To the best of our knowledge, this is the first report of Down syndrome, in a child, which was accompanied by these 3 neurologic complications simultaneously. As seen in this case, patients with Down syndrome may have neurologic conditions without any obvious neurologic symptoms; hence, patients with Down syndrome should be carefully examined for the presence of neurologic conditions.

• 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.

• 융합정보논문지
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• 제10권8호
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• pp.213-222
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• 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.

• 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.

• 대한감각통합치료학회지
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• 제21권2호
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• pp.12-23
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• 2023

목적 : 감각통합치료와 가정프로그램의 중재병행이 다운증후군 아동의 시각적 주의력에 미치는 효과를 알아보고자 하였다. 연구방법 : 본 연구는 다운증후군 아동 1명의 대상으로 개별실험연구를 진행하였으며, 감각통합치료 중재는 주 1회씩 16주간, 가정프로그램은 주 4회씩 16주간 시행하였다. 대상 아동에게 중재 후 시각적 주의력의 변화를 측정하였다. 결과 : 중재 후 물체 주시, 물체 수평적 추시, 물체 수직적 추시 시간은 기초선 기간에 비해 평균값이 상승하였다. 중재 기간에 관찰된 물체 주시, 물체 수평적 추시, 물체 수직적 추시가 기초선 기간의 ±2 표준편차보다 높게 나타났다. 결론 : 본 연구를 통해 감각통합치료와 가정프로그램의 중재병행이 다운증후군 아동에게 시각적 주의력과 시지각 향상된 것을 확인하였으며, 효과적인 중재 방법을 제시하였다는 점에 의의가 있다.

• 대한간호학회지
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• 제45권4호
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• pp.501-512
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• 2015

Purpose: The purpose of this study, which was guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation, was twofold: (a) to explore family and parental adaptation and factors influencing family adaptation in Korean families of children with Down syndrome (DS) through a quantitative methodology and (b) to understand the life with a Korean child with DS through a qualitative method. Methods: A mixed-methods design was adopted. A total of 147 parents of children with DS completed a package of questionnaires, and 19 parents participated in the in-depth interviews. Quantitative and qualitative data were analyzed using stepwise multiple regression and content analysis respectively. Results: According to the quantitative data, the overall family adaptation scores indicated average family functioning. Financial status was an important variable in understanding both family and parental adaptation. Family adaptation was best explained by family problem solving and coping communication, condition management ability, and family hardiness. Family strains and family hardiness were the family factors with the most influence on parental adaption. Qualitative data analysis showed that family life with a child with DS encompassed both positive and negative aspects and was expressed with 5 themes, 10 categories, and 16 sub-categories. Conclusion: Results of this study expand our limited knowledge and understanding concerning families of children with DS in Korea and can be used to develop effective interventions to improve the adaptation of family as a unit as well as parental adaptation.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제23권1호
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• pp.31-35
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• 2012

Noonan syndrome is characterized by short stature, typical facial dysmorphology, and congenital heart defects. The main facial features of Noonan syndrome are hypertelorism with down-slanting palpebral fissures, ptosis, and low-set posteriorly-rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency, and lymphatic dysplasias. The patient is a 10-year-old boy. He had experienced repeated febrile convulsions. He had typical facial features, a short stature, chest deformity, cryptorchidism, vesicoureteral reflux, and mental retardation. His language and motor development were delayed. When he went to school, it was difficult for him to pay attention, follow directions, and organize tasks. He also displayed behavior such as squirming, leaving his seat in class, and running around inappropriately. Clinical observation is important for the diagnosis, so we report a patient who was diagnosed with Noonan syndrome, mental retardation, and attention-deficit hyperactivity disorder.

• 한국운동역학회지
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• 제18권1호
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• pp.107-115
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• 2008

본 연구의 목적은 다운증후군 아동들의 점프와 착지 능력 향상을 위해 다운증후군 아동의 점프와 착지 동작 수행 시 지면반력과 근육 활동을 규명하는 것이다. 다운증후군 아동 6명과 정상아동 1명이 수직 점프 후 착지 동작을 수행하였으며, 대퇴이두근, 대퇴직근, 전경골근 및 비복근의 근육활동과 지면반력이 분석되었다. 다운증후군 아동들은 점프 동작 수행 시 추진구간에서 비복근을 제대로 사용하지 못하는 것으로 나타났다. 이러한 비복근의 소극적인 활동은 다운증후군 아동의 발 앞꿈치 이지 전 0.3초 동안 충격량이 정상아동에 비해 작게 나타난 결과와 일치한다. 다운증후군 아동의 제 2 수직지면반력은 정상 아동에 비해 늦게 나타나, 다운증후군 아동들은 건강한 아동에 비해 무릎을 더 많이 굴곡시켜 착지했음을 알 수 있다. 다운증후군 아동의 제 1 및 제 2 수직지면반력, 다운증후군 아동 D3을 제외한 다운증후군 아동의 제 2부하율은 정상아동 보다 작게 나타났다. 운동기술이 저하된 다운증후군 아동은 착지 시 지면으로부터 발생되는 충격을 흡수하는 능력이 정상아동에 비해 떨어지는 것으로 나타났다.

• Clinical and Experimental Pediatrics
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• 제64권7호
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• pp.355-363
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• 2021

Background: Nephrotic syndrome (NS) is a common renal disorder in children attributed to podocyte injury. However, children with the same diagnosis have markedly variable treatment responses, clinical courses, and outcomes, suggesting molecular heterogeneity. Purpose: This study aimed to explore the molecular responses of podocytes to nephrotic plasma to identify specific genes and signaling pathways differentiating various clinical NS groups as well as biological processes that drive injury in normal podocytes. Methods: Transcriptome profiles from immortalized human podocyte cell line exposed to the plasma of 8 subjects (steroid-sensitive nephrotic syndrome [SSNS], n=4; steroid-resistant nephrotic syndrome [SRNS], n=2; and healthy adult individuals [control], n=2) were generated using microarray analysis. Results: Unsupervised hierarchical clustering of global gene expression data was broadly correlated with the clinical classification of NS. Differential gene expression (DGE) analysis of diseased groups (SSNS or SRNS) versus healthy controls identified 105 genes (58 up-regulated, 47 down-regulated) in SSNS and 139 genes (78 up-regulated, 61 down-regulated) in SRNS with 55 common to SSNS and SRNS, while the rest were unique (50 in SSNS, 84 genes in SRNS). Pathway analysis of the significant (P≤0.05, -1≤ log2 FC ≥1) differentially expressed genes identified the transforming growth factor-β and Janus kinase-signal transducer and activator of transcription pathways to be involved in both SSNS and SRNS. DGE analysis of SSNS versus SRNS identified 2,350 genes with values of P≤0.05, and a heatmap of corresponding expression values of these genes in each subject showed clear differences in SSNS and SRNS. Conclusion: Our study observations indicate that, although podocyte injury follows similar pathways in different clinical subgroups, the pathways are modulated differently as evidenced by the heatmap. Such transcriptome profiling with a larger cohort can stratify patients into intrinsic subtypes and provide insight into the molecular mechanisms of podocyte injury.