scholarly journals Opportunities, barriers, and recommendations in down syndrome research

2021 ◽  
pp. 1-31
Author(s):  
James A. Hendrix ◽  
Angelika Amon ◽  
Leonard Abbeduto ◽  
Stamatis Agiovlasitis ◽  
Tarek Alsaied ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Down Syndrome ◽  
Life Expectancy ◽  
Research Strategy ◽  
Review Article ◽  
Research Gaps ◽  
Working Groups ◽  
Research Plan ◽  
Multidisciplinary Group

BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly understood. In 2020, the NIH announced their plan to update their DS research plan and requested input from the scientific and advocacy community. OBJECTIVE: The National Down Syndrome Society (NDSS) and the LuMind IDSC Foundation worked together with scientific and medical experts to develop recommendations for the NIH research plan. METHODS: NDSS and LuMind IDSC assembled over 50 experts across multiple disciplines and organized them in eleven working groups focused on specific issues for people with DS. RESULTS: This review article summarizes the research gaps and recommendations that have the potential to improve the health and quality of life for people with DS within the next decade. CONCLUSIONS: This review highlights many of the scientific gaps that exist in DS research. Based on these gaps, a multidisciplinary group of DS experts has made recommendations to advance DS research. This paper may also aid policymakers and the DS community to build a comprehensive national DS research strategy.

‘I will never be old’: adults with Down syndrome and their parents talk about ageing-related challenges

2019 ◽  
Vol 40 (8) ◽  
pp. 1788-1807
Author(s):  
Adi Finkelstein ◽  
Ariel Tenenbaum ◽  
Yaacov G. Bachner
Keyword(s):  
Quality Of Life ◽  
Down Syndrome ◽  
Life Expectancy ◽  
End Of Life ◽  
Older Person ◽  
Timely Manner ◽  
Old Adults ◽  
Unique Approach ◽  
The Subject

AbstractThe life expectancy of people with Down syndrome (DS) has increased significantly over the last few decades. Consequently, they and their families face new ageing-related challenges, the first signs of which appear in people with DS around the age of 30. The goal of this study was to explore the perceptions of adults with DS regarding their own and their parents’ ageing and end of life, and to examine the views and concerns of the parents regarding the ageing of their children with DS. The unique approach used in our study was to convene not only the ageing people with DS but also their parents, to discuss the subject together. A total of 33 people with DS participated in the study. Most of them were interviewed with one or two parents. Participants with DS found it difficult to talk about their own old age and addressed the issue mainly through the decline in the functioning of an older person they knew. The parents emphasised the changes needed in terms of the official regulations, so as to ensure that their children with DS age with dignity and quality of life. Our study identifies the increasingly pressing need to prepare adults with DS for their own and their parents’ ageing and end of life in a timely manner.

Cancer pain management

2014 ◽  
Vol 155 (3) ◽  
pp. 93-99
Author(s):  
Péter Heigl
Keyword(s):  
Quality Of Life ◽  
Pain Management ◽  
Pain Relief ◽  
Life Expectancy ◽  
Cancer Pain ◽  
Cancer Pain Management ◽  
Medical Activity ◽  
Short Summary ◽  
Adequate Quality

Pain is a significant and alarming symptom of cancer seriously affecting the activity and quality of life of patients. Recent research proved that inadequate analgesia shortens life expectancy. Therefore, pain relief is not only a possibility but a professional, ethical and moral commitment to relieve patients from suffering, as well as ensure their adequate quality of life and human dignity. Proper pain relief can be achieved with medical therapy in most of the cases and the pharmacological alternatives are available in Hungary. Yet medical activity regarding pain relief is far from the desired. This paper gives a short summary of the guidelines on medical pain management focusing particularly on the use of opioids. Orv. Hetil., 2014, 155(3), 93–99.

“Position Paper” Timely Insulinisation in Type 2 Diabetes Patients

2012 ◽  
Vol 19 (4) ◽  
pp. 441-444
Author(s):  
László Barkai ◽  
Nicolae Hâncu ◽  
György Jermendy ◽  
Maya Konstantinova ◽  
Radu Lichiardopol ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Type 2 Diabetes ◽  
Life Expectancy ◽  
Insulin Therapy ◽  
Metabolic Control ◽  
Current Medical ◽  
Position Paper ◽  
Medical Evidence

AbstractThe objective of this position paper is to review the current medical evidence andguidelines regarding the treatment of type 2 diabetes (T2DM) and to issue medicalrecommendations strengthening the timely use of insulin in patients with T2DMuncontrolled on noninsulin therapy. When noninsulin therapy fails to achieve or tomaintain HbA1c targets, insulin therapy is required. Timely insulin therapy couldprovide proper metabolic control that might prevent complications, lead toimprovement of life expectancy and quality of life.

scholarly journals Quality of Life: Changes in Self-Perception in People with down Syndrome as a Result of Being Part of a Football/Soccer Team. Self-Reports and External Reports

2021 ◽  
Vol 11 (2) ◽  
pp. 226
Author(s):  
Rocío Camacho ◽  
Cristina Castejón-Riber ◽  
Francisco Requena ◽  
Julio Camacho ◽  
Begoña Escribano ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Down Syndrome ◽  
Personal Development ◽  
Social Inclusion ◽  
Evaluation Process ◽  
Well Being ◽  
Self Perception ◽  
Football Team ◽  
Soccer Team

The hypothesis posed was whether being part of a football/soccer team influenced the quality of life (QL) of the people who participated in it since their perception of themselves is enhanced by factors, such as self-determination, social inclusion, emotional well-being, physical well-being, material well-being, rights, personal development, and internal relationships. The objective was to evaluate the QL of people with Down Syndrome (DS) using their self-perception (n = 39) and the perception of the informants (family members, teachers) (n = 39). The KidsLife-Down Scale, with a few modifications, was used. In general, differences of opinion between the subgroups of participants with DS and informants showed that results were higher in terms of perception for participants in the DS subgroup. Scores for all variables were higher for those participants with DS who said they did engage in practicing competitive football/soccer. Although the perception of informants provides a great deal of information regarding the QL of participants with DS, participants with DS should also be involved in the evaluation process and their self-perceptions taken into account. It is not participating in a football team that causes the conclusions of the study, but training (which includes the friendly matches that are played), the cause correlated with the improvements detected in the athlete’s DS.

scholarly journals Sleep Disorders in Adults with Down Syndrome

2021 ◽  
Vol 10 (14) ◽  
pp. 3012
Author(s):  
Sandra Giménez ◽  
Miren Altuna ◽  
Esther Blessing ◽  
Ricardo M. Osorio ◽  
Juan Fortea
Keyword(s):  
Quality Of Life ◽  
Mental Health ◽  
Down Syndrome ◽  
Sleep Disorders ◽  
Negative Impact ◽  
Current Knowledge ◽  
Sleep Disruption ◽  
Physical And Mental Health ◽  
Future Directions

Sleep disorders, despite being very frequent in adults with Down syndrome (DS), are often overlooked due to a lack of awareness by families and physicians and the absence of specific clinical sleep guidelines. Untreated sleep disorders have a negative impact on physical and mental health, behavior, and cognitive performance. Growing evidence suggests that sleep disruption may also accelerate the progression to symptomatic Alzheimer’s disease (AD) in this population. It is therefore imperative to have a better understanding of the sleep disorders associated with DS in order to treat them, and in doing so, improve cognition and quality of life, and prevent related comorbidities. This paper reviews the current knowledge of the main sleep disorders in adults with DS, including evaluation and management. It highlights the existing gaps in knowledge and discusses future directions to achieve earlier diagnosis and better treatment of sleep disorders most frequently found in this population.

scholarly journals Family Variables and Quality of Life in Children with Down Syndrome: A Scoping Review

2021 ◽  
Vol 18 (2) ◽  
pp. 419
Author(s):  
Anna Lee ◽  
Kathleen Knafl ◽  
Marcia Van Riper
Keyword(s):  
Quality Of Life ◽  
Down Syndrome ◽  
Scoping Review ◽  
Personal Development ◽  
Well Being ◽  
Future Research ◽  
Cross Sectional ◽  
Children With Down Syndrome ◽  
Family Variables

The purpose of this scoping review was to identify the family and child quality of life variables that have been studied in relation to one another in children with Down syndrome, the frequency with which different relationships have been studied, and the extent to which family variables were the focus of the research aims. A literature search was conducted to find studies published between January 2007 and June 2018. The initial search yielded 2314 studies; of these, 43 were selected for a final review. Researchers most often addressed family resources and family problem-solving and coping concerning child personal development and physical well-being. Little attention to child emotional well-being was observed, with none considering family appraisal of child emotional well-being. The relationship between family variables and child QoL rarely was the primary focus of the study. Methodologically, most reviewed studies used cross-sectional designs, were conducted in North America and based on maternal report. From future research considering the issues found in this review, healthcare providers can obtain an in-depth understanding of relationships between children and family variables.

scholarly journals Prediction of all-cause mortality from 24 month trajectories in patient-reported psychological, clinical and quality of life outcomes in uveal melanoma patients

2021 ◽  
Author(s):  
Stephen L. Brown ◽  
Peter L. Fisher ◽  
Laura Hope-Stone ◽  
Heinrich Heimann ◽  
Rumana Hussain ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Life Expectancy ◽  
Uveal Melanoma ◽  
Cox Regression ◽  
Multivariate Analyses ◽  
Tumor Diameter ◽  
Control Variables ◽  
Patient Reported ◽  
All Cause Mortality

AbstractA number of patient-reported outcomes (PROs) predict increased mortality after primary cancer treatment. Studies, though, are sometimes affected by methodological limitations. They often use control variables that poorly predict life expectancy, examine only one or two PROs thus not controlling potential confounding by unmeasured PROs, and observe PROs at only a single point in time. To predict all-cause mortality, this study used control variables affording good estimates of life expectancy, conducted multivariate analyses of multiple PROs to identify independent predictors, and monitored PROs two years after diagnosis. We recruited a consecutive sample of 824 patients with uveal melanoma between April 2008 and December 2014. PROs were variables shown to predict mortality in previous studies; anxiety, depression, visual and ocular symptoms, visual function impairment, worry about cancer recurrence, and physical, emotional, social and functional quality of life (QoL), measured 6, 12 and 24 months after diagnosis. We conducted Cox regression analyses with a census date of December 2018. Covariates were age, gender, marital and employment status, self-reported co-morbidities, tumor diameter and thickness, treatment modality and chromosome 3 mutation status, the latter a genetic mutation strongly associated with mortality. Single predictor analyses (with covariates), showed 6-month depression and poorer functional QoL predicting mortality, as did 6–12 month increases in anxiety and 6–12 month decreases in physical and functional QoL. Multivariate analyses using all PROs showed independent prediction by 6-month depression and decreasing QoL over 6–12 months and 12–24 months. Elevated depression scores six months post-diagnosis constituted an increased mortality risk. Early intervention for depressive symptoms may reduce mortality.

Total Hip Arthroplasty in Down Syndrome Patients: An Improvement in Quality of Life

2013 ◽  
Vol 28 (4) ◽  
pp. 701-706 ◽  
Author(s):  
Allan E. Gross ◽  
John J. Callaghan ◽  
Michael G. Zywiel ◽  
Justin J. Greiner ◽  
Yona Kosashvili ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Down Syndrome ◽  
Total Hip Arthroplasty ◽  
Hip Arthroplasty ◽  
Total Hip

The perspective of emerging adults with Down syndrome – On quality of life and well-being

2021 ◽  
pp. 174462952110300
Author(s):  
Kjersti Wessel Jevne ◽  
Marit Kollstad ◽  
Anne-Stine Dolva
Keyword(s):  
Quality Of Life ◽  
Down Syndrome ◽  
Emerging Adults ◽  
Communication Technology ◽  
Well Being ◽  
Subjective Well Being ◽  
Safe Place ◽  
Social Leisure ◽  
Information And Communication

This study explored the thoughts of emerging adults with Down syndrome on quality of life and subjective well-being. Eight 22-year-olds participated in interviews. Data was analysed with content analysis. Four themes were revealed: Work based on interest and capability, having an active and social leisure life, a safe place to live and the use of information and communication technology. Two context related patterns were identified showing that quality of life and subjective well-being were related to individualised support to enhance independency in work, social leisure and place of living. Knowledge of their perception of independency and their awareness of needing customised help and support is valuable. This study supports the proposed emerging Quality of Life Supports Paradigm in the field of intellectual disabilities, which integrates key concepts of quality of life and supports.

Dance, functioning and quality of life in children with Down syndrome and autism spectrum disorder dance, functioning and quality of life in Down syndrome and autism spectrum disorder

2021 ◽  
pp. 135910452110617
Author(s):  
Evanilza T. Adorno ◽  
Daiany C de J. Dos Santos ◽  
Beatriz M. DeJesus ◽  
Adrielle A. Passos ◽  
Lavínia Teixeira-Machado
Keyword(s):  
Quality Of Life ◽  
Autism Spectrum Disorder ◽  
Down Syndrome ◽  
Rating Scale ◽  
Functional Independence Measure ◽  
Functional Independence ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Children With Down Syndrome

This study investigated dance practice in psychosocial and functional aspects, and quality of life in children with Down syndrome and autism spectrum disorder. Children with DS and ASD, between 3 and 12 years old, attended a dance program during 16 sessions/lessons, lasting 60 min, twice a week, in suitable place. Functional Independence Measure (FIM), Childhood Autism Rating Scale SF-36 quality of life survey, and Knowledge, Attitude and Practice Inquiry (KAP Inquiry) were applied before and after dance classes. Eleven participants concluded the study. Functional independence changes were observed in relation to self-care, sphincter control, locomotion, and communication domains. Children’ “quality of life” reported by parents showed changes in functional capacity, vitality, mental health, physical and social aspects, and general state of health domains. These findings suggest that regular dance practice can underlie psychosocial adjustments in children with DS and ASD.

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