Disease Knowledge and Attitudes toward Predictive Testing and Prenatal Diagnosis in Families with Machado-Joseph Disease from the Azores Islands (Portugal)

2001 ◽  
Vol 4 (1) ◽  
pp. 36-42 ◽  
Author(s):  
M. Lima ◽  
T. Kay ◽  
J. Vasconcelos ◽  
L. Mota-Vieira ◽  
C. Gonzalez ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Predictive Testing ◽  
Disease Knowledge ◽  
Knowledge And Attitudes ◽  
Azores Islands ◽  
Machado Joseph Disease

scholarly journals Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)

2008 ◽  
Vol 53 (4) ◽  
pp. 333-339 ◽  
Author(s):  
Conceição Bettencourt ◽  
Raquel Nunes Fialho ◽  
Cristina Santos ◽  
Rafael Montiel ◽  
Jácome Bruges-Armas ◽  
...  
Keyword(s):  
Segregation Distortion ◽  
Disease Locus ◽  
Normal Families ◽  
Wild Type ◽  
Azores Islands ◽  
Machado Joseph Disease

scholarly journals The Effects of Involvement in Training And Volunteering with Families of People With Dementia on The Knowledge and Attitudes of Volunteers Towards Dementia

2021 ◽  
Author(s):  
Daphne Sze Ki Cheung ◽  
Lily Yuen Wah Ho ◽  
Robin Ka Ho Kwok ◽  
Daniel Lok Lam Lai ◽  
Claudia Kam Yuk Lai
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Well Being ◽  
Rank Test ◽  
Volunteer Training ◽  
Voluntary Service ◽  
Disease Knowledge ◽  
Knowledge And Attitudes ◽  
People With Dementia ◽  
Knowledge Scale

Abstract Background: Volunteers have been a valuable resource in supporting people with dementia and their caregivers in the community. However, factors such as misconceptions, negative attitudes towards dementia, and a lack of motivation might impact the quality of volunteer care. The aim of the present paper is to examine the effect of training and service provision on the knowledge and attitudes of volunteers towards dementia, as well as the association between such knowledge and attitudes and the motivation to volunteer. Methods: The present study is part of an effectiveness-implementation cluster randomized clinical hybrid trial using a music-with-movement intervention to promote the well-being of people with dementia and their informal caregivers. Volunteers were recruited to receive training to support the delivery of the intervention. Training and enrichment workshops were offered to volunteers during the one-year project. Before and after their volunteer training and service, the recruited volunteers were asked to complete the following assessments: The Volunteer Functions Inventory, Dementia Attitudes Scale, and the Alzheimer’s Disease Knowledge Scale. Wilcoxon signed-rank test and multiple regression test were applied for statistical analyses. Results: A total of 127 volunteers were recruited and 81 of them completed a mean period of 47.32 weeks of training and service. Significant improvements in their total score on the Alzheimer’s Disease Knowledge Scale (p=.009) and Dementia Attitudes Scale (p<.001) were found. Dementia knowledge (β=.57, p<.001) and attitudes (β=-.18, p=.038) were found to have the most significant association with the motivation to be a volunteer at baseline. Conclusions: The present study illustrated the importance of quality volunteer training and voluntary service in improving the dementia knowledge and attitudes of volunteers. It also shed light on the association between knowledge and attitudes with the motivation to volunteer. Accordingly, future research and public health policymakers should address more efforts to amplify the advantage of volunteers as a vital asset in dementia care.Trial Registration: NCT03575026 (ClinicalTrials.gov), First registeration on 02/07/2018.

Huntington's Disease

2020 ◽  
Author(s):  
Oliver Quarrell
Keyword(s):  
Clinical Trials ◽  
Prenatal Diagnosis ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Diagnosis ◽  
Predictive Testing ◽  
Genetic Change ◽  
Impulsive Behaviour ◽  
Key Features ◽  
In Pregnancy

Huntington’s disease (HD)―the facts provides an overview of the condition aimed at families and carers understanding the condition. It describes the key features of: a movement disorder, disturbance of mood (affect), and problems with thinking (cognition) and behaviour. The movement problems of chorea, dystonia, and bradykinesia are explained but there is equal emphasis on depression impulsive behaviour and temper outbursts. Understanding the cause of these may help families cope better when they arise. The genetic change is discussed as is its effect on the protein huntingtin. Options for genetic testing of those at risk (predictive testing) as well as options for tests in pregnancy (prenatal diagnosis) and preimplantation genetic diagnosis (PGD) are described. Currently treatment is symptomatic and supportive. There is a discussion of clinical trials in general and the current huntingtin lowering studies using anti-sense oligonucleotides (ASOs) in particular. The book also includes vignettes written by family members.

Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis

2008 ◽  
Vol 41 (4) ◽  
pp. 189-196 ◽  
Author(s):  
Marlean Decruyenaere ◽  
Gerry Evers-Klebooms ◽  
Lleve Denayer ◽  
Herman Berghe
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Carrier Screening ◽  
Community Knowledge ◽  
Knowledge And Attitudes

Prenatal diagnosis of Machado–Joseph disease by direct mutation analysis

1998 ◽  
Vol 18 (6) ◽  
pp. 611-617 ◽  
Author(s):  
Jorge Sequeiros ◽  
Patrícia Maciel ◽  
Filomena Taborda ◽  
Susana Lêdo ◽  
José Carlos Rocha ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Direct Mutation ◽  
Machado Joseph Disease
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