scholarly journals Development of Down Syndrome Research Over the Last Decades–What Healthcare and Education Professionals Need to Know

2021 ◽  
Vol 12 ◽  
Author(s):  
Karin Windsperger ◽  
Stefanie Hoehl
Keyword(s):  
Down Syndrome ◽  
Neurodevelopmental Disorder ◽  
Accelerated Aging ◽  
Early Interventions ◽  
Prenatal Counseling ◽  
Full Spectrum ◽  
Education Professionals ◽  
Early Onset Alzheimer’S Disease ◽  
Context Knowledge

Down syndrome (DS) is the most prevalent neurodevelopmental disorder, with a known genetic cause. Besides facial dysmorphologies and congenital and/or acquired medical conditions, the syndrome is characterized by intellectual disability, accelerated aging, and an increased likelihood of an early onset Alzheimer's disease in adulthood. These common patterns of DS are derived from the long-held standard in the field of DS research, that describes individuals with DS as a homogeneous group and compares phenotypic outcomes with either neurotypical controls or other neurodevelopmental disorders. This traditional view has changed, as modern research pinpoints a broad variability in both the occurrence and severity of symptoms across DS, arguing for DS heterogeneity and against a single “DS profile.” Nevertheless, prenatal counseling does not often prioritize the awareness of potential within-group variations of DS, portraying only a vague picture of the developmental outcomes of children with DS to expectant parents. This mini-review provides a concise update on existent information about the heterogeneity of DS from a full-spectrum developmental perspective, within an interdisciplinary context. Knowledge on DS heterogeneity will not only enable professionals to enhance the quality of prenatal counseling, but also help parents to set targeted early interventions, to further optimize daily functions and the quality of life of their children.

ADOECIMENTO DE PROFESSORES UNIVERSITÁRIOS COM DIAGNÓSTICO DE TRANSTORNO AFETIVO BIPOLAR UMA REVISÃO DE LITERATURA

REVISTA FIMCA ◽  
2019 ◽  
Vol 6 (3) ◽  
pp. 1-6
Author(s):  
Pâmela Gomes Artioli ◽  
Natiely Souza Lima ◽  
Camila Silva
Keyword(s):  
Higher Education ◽  
Bipolar Disorder ◽  
Bipolar Affective Disorder ◽  
Physical Work ◽  
Education Professionals ◽  
Work Related ◽  
Analysis Technique ◽  
Work Routine ◽  
Teaching Area

Introdução: Com o passar dos anos, além de doenças laborais físicas, surge um novo cenário de doenças emocionais que vem afetando gradativamente profissionais da área da docência a pesquisa em questão visou identificar os transtornos mentais que mais provocam afastamento de docentes em instituições de ensino superior, (com ênfase no transtorno bipolar), onde contribuiu para se aprofundar a análise de fatores relacionados a esse tipo de transtorno. Objetivos: os objetivos deste estudo, são de realizar análise crática e reflexiva quanto ao número elevado de professores de ensino superior com o Transtorno Afetivo Bipolar, e a relação dos fatores associados a este impedimento dos profissionais, destacar também questões relativas à saúde mental, e identificar quais são as consequências que implicam na rotina de trabalho desses professores e o aumento de docentes com diagno?stico de Transtorno Bipolar. Materiais e Métodos: Quanto à fundamentação teórica, trata-se de um referencial bibliográfico ao passo que utiliza de literaturas científicas disponibilizadas por meio eletrônico. Utilizando-se como técnica de análise de dados a análise de conteúdo interpretativa. Os critérios de inclusão que foram usados são: publicações em português, entre os anos de 2000 a 2018 disponíveis na íntegra. Conclusão: Por fim chegou-se ao entendimento de que além da sobrecarga os docentes remanescentes, o adoecimento crescente dos profissionais da educação compromete a qualidade de vida desses profissionais. Introduction: Over the years, in addition to physical work-related illnesses, a new scenario of emotional diseases emerges that has gradually affected professionals in the teaching area. The research in question aimed at identifying the mental disorders that cause the most withdrawal of teachers in higher education institutions, (with emphasis on bipolar disorder), where it contributed to deepen the analysis of factors related to this type of disorder. Objectives: The objectives of this study are to perform a critical and reflexive analysis regarding the high number of teachers of higher education with Bipolar Affective Disorder, and the relation of the factors associated with this impediment of the professionals, also highlight issues related to mental health, and identify what are the consequences that imply in the work routine of these teachers and the increase of teachers diagnosed with Bipolar Disorder. Materials and Methods: Regarding the theoretical basis, it is a bibliographical reference while using scientific literatures made available electronically. The analysis of interpretive content was used as data analysis technique. The inclusion criteria that were used are: publications in Portuguese, between the years 2000 to 2018 available in full. Conclusion: Finally, it was understood that in addition to overloading the remaining teachers, the growing sickness of education professionals compromises the quality of life of these professionals.

scholarly journals Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity

2021 ◽  
Vol 10 (13) ◽  
pp. 2776
Author(s):  
Miren Altuna ◽  
Sandra Giménez ◽  
Juan Fortea
Keyword(s):  
Down Syndrome ◽  
Functional Outcomes ◽  
Clinical Presentation ◽  
Late Onset ◽  
Current Knowledge ◽  
Epileptic Seizures ◽  
Myoclonic Epilepsy ◽  
Increased Risk ◽  
Number Of Individuals

Individuals with Down syndrome (DS) have an increased risk for epilepsy during the whole lifespan, but especially after age 40 years. The increase in the number of individuals with DS living into late middle age due to improved health care is resulting in an increase in epilepsy prevalence in this population. However, these epileptic seizures are probably underdiagnosed and inadequately treated. This late onset epilepsy is linked to the development of symptomatic Alzheimer’s disease (AD), which is the main comorbidity in adults with DS with a cumulative incidence of more than 90% of adults by the seventh decade. More than 50% of patients with DS and AD dementia will most likely develop epilepsy, which in this context has a specific clinical presentation in the form of generalized myoclonic epilepsy. This epilepsy, named late onset myoclonic epilepsy (LOMEDS) affects the quality of life, might be associated with worse cognitive and functional outcomes in patients with AD dementia and has an impact on mortality. This review aims to summarize the current knowledge about the clinical and electrophysiological characteristics, diagnosis and treatment of epileptic seizures in the DS population, with a special emphasis on LOMEDS. Raised awareness and a better understanding of epilepsy in DS from families, caregivers and clinicians could enable earlier diagnoses and better treatments for individuals with DS.

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.

Developmental coordination disorder is more than a motor problem: Children describe the impact of daily struggles on their quality of life

2017 ◽  
Vol 81 (2) ◽  
pp. 65-73 ◽  
Author(s):  
Jill G Zwicker ◽  
Melinda Suto ◽  
Susan R Harris ◽  
Nikol Vlasakova ◽  
Cheryl Missiuna
Keyword(s):  
Quality Of Life ◽  
Motor Coordination ◽  
Developmental Coordination Disorder ◽  
Neurodevelopmental Disorder ◽  
Emotional Impact ◽  
Qualitative Researcher ◽  
Motor Problem ◽  
Coordination Disorder ◽  
The Impact

Introduction Affecting 5–6% of children, developmental coordination disorder is a neurodevelopmental disorder characterized by poor motor coordination and difficulty learning motor skills. Although quantitative studies have suggested that children with developmental coordination disorder experience reduced quality of life, no known qualitative studies have reported what daily life is like from their perspective. Method Guided by an inductive realistic approach and using semi-structured, individual interviews, 13 children (8–12 years) were asked to describe what life is like in their own words. Three researchers coded interviews manually to identify relevant content. An experienced qualitative researcher conducted a second, in-depth thematic analysis using NVivo to identify patterns and themes. Findings Two themes – milestones as millstones and the perils of printing – illuminated participants’ challenges in completing everyday activities at home and at school. The third theme – more than a motor problem – revealed the social and emotional impact of these struggles and from being excluded from play. The fourth theme – coping strategies – described their efforts to be resilient. Conclusion Parents, educators, physicians, and therapists working with children with developmental coordination disorder must recognize how their quality of life is affected by the physical and emotional toll of their efforts to participate successfully in daily activities.

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.

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