• 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 Pediatrics
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• v.56 no.12
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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.

• Journal of Families and Better Life
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• v.34 no.4
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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.

• 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 Applied Biomechanics
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• v.16 no.4
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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.

• The Journal of Korean Academy of Sensory Integration
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• v.21 no.2
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• pp.12-23
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• 2023

Objective : The purpose of this study was to investigate the effect of sensory integration therapy and home program intervention on the visual attention of children with Down syndrome. Methods : This study used a single subject design for one child with Down syndrome, Sensory integrated treatment intervention was conducted once a week for 16 weeks, and home programs were conducted four times a week for 16 weeks. Changes in visual attention were measured after intervention in the target child. Results : After the intervention, the average values of object gaze, object horizontal pursuit, and object vertical pursuit time increased compared with the baseline period. In object gaze, object horizontal pursuit, and object vertical pursuit, a section higher than the ±2 standard deviation of the baseline period was observed during the intervention period. Conclusion : This study confirmed that the combination of sensory integrated therapy and home program intervention improved visual attention and visual perception in children with Down syndrome, and it is meaningful that it presented an effective intervention method.

• Journal of Korean Academy of Nursing
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• v.45 no.4
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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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• v.23 no.1
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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.

• Korean Journal of Applied Biomechanics
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• v.18 no.1
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• pp.107-115
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• 2008

The purpose of this study was to investigate muscle activity and vertical ground reaction force(F) in children with Down syndrome(DS) during vertical jump. Six DS and one healthy child performed vertical jump. Four muscles(Biceps femoris, Rectus femoris, Tibialis anterior & Gastrocnemius) and F were analyzed. Gastrocnemius in DS showed lower muscle activity in a propulsive phase. Impulse during 0.3sec before toe-off in DS displayed lower value than that in the healthy child. The second peak of F in DS occurred later than that in the healthy child, so DS performed landing with their knee more flexed. The first and second peak of F and loading rate to the second peak of F in DS showed lower value than those in the healthy child. Therefore, DS might have lower ability to absorb the force while landing from a vertical jump.

• Clinical and Experimental Pediatrics
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• v.64 no.7
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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.