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Article
Publication date: 26 August 2014

Hayley Starkey, Shelley Bevins and Simon Bonell

People with Down's syndrome are at increased risk of developing early onset Alzheimer's disease. It has been recommended that all adults with Down's syndrome receive…

Abstract

Purpose

People with Down's syndrome are at increased risk of developing early onset Alzheimer's disease. It has been recommended that all adults with Down's syndrome receive baseline neuropsychological testing for dementia. In certain areas prospective screening of people with Down's syndrome takes place to ensure the early diagnosis of the condition. However, little has been published on the value of this type of screening. The purpose of this paper is to report on a prospective screening programme and asks whether the programme is effective in identifying dementia-related changes in people with Down's syndrome and whether the current screening intervals are appropriate.

Design/methodology/approach

All adults with Down's syndrome in Plymouth (UK) are identified and offered a comprehensive test battery at baseline at the age of 20 and then have testing biennially from 40 to 50 and annually after 50. All individuals diagnosed with dementia between 2001 and 2013 were identified and their case notes examined. The symptoms at the time of diagnosis were identified and whether these symptoms had been identified through the screening programme or by other routes were recorded. Prevalence data and age at diagnosis were also recorded.

Findings

In total, 26 people were diagnosed with dementia during the study period. Of these, the diagnosis of dementia followed concerns being identified during the routine screening programme in 54 per cent of cases. In the younger age group (age 40-49) 63 per cent of people were identified through the screening programme. At the time of diagnosis a mean of 5.5 areas of concern were in evidence.

Research limitations/implications

Limited by small sample size, however service development not original research. Implications for the use of prospective dementia screening in people with Down's syndrome.

Practical implications

Implications for how services choose to run their Down's syndrome and dementia screening programmes, including the frequency of screening.

Originality/value

The paper adds to a growing evidence base around the value of prospective dementia screening in people with Down's syndrome. It is also one of a few studies exploring the frequency of screening. Additionally, it adds further data about prevalence of dementia in people with Down's syndrome.

Details

Advances in Mental Health and Intellectual Disabilities, vol. 8 no. 5
Type: Research Article
ISSN: 2044-1282

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Article
Publication date: 1 October 2003

Sharna McQuillan, Sunny Kalsy, Jan Oyebode, Dave Millichap, Chris Oliver and Scott Hall

Adults with Down's Syndrome are at risk of developing Alzheimer's disease in later life. This paper gives an overview of the current research in the area and discusses the…

Abstract

Adults with Down's Syndrome are at risk of developing Alzheimer's disease in later life. This paper gives an overview of the current research in the area and discusses the implications it raises for individuals, carers and service providers. Information on the link between Down's Syndrome and Alzheimer's disease and prevalence rates are given. The clinical symptoms of Alzheimer's disease and a stage model documenting the progression of the disease are presented. Attention is drawn to the problems inherent in assessing and diagnosing Alzheimer's disease in a person with a pre‐existing learning disability. The importance of a thorough assessment procedure and guidelines for assessment methods are highlighted. The paper also discusses the management of Alzheimer's disease and focuses on care management practices and recommendations for service provision. Guidelines for supporting individuals include maintaining skills, adopting a person‐centred approach, implementing psychosocial interventions and multidisciplinary care management. Finally, high prevalence rates of Alzheimer's disease in adults with Down's Syndrome and increasing life spans are highlighted as a particular concern, and recommendations for the future include increasing education and awareness, implementing screening services, improving assessment methods and developing appropriate services.

Details

Tizard Learning Disability Review, vol. 8 no. 4
Type: Research Article
ISSN: 1359-5474

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Book part
Publication date: 9 November 2020

Nicki Pombier

Purpose: This chapter proposes narrative allyship across ability as a practice in which nondisabled researchers work with disabled nonresearchers to co-construct a process…

Abstract

Purpose: This chapter proposes narrative allyship across ability as a practice in which nondisabled researchers work with disabled nonresearchers to co-construct a process that centers and acts on the knowledge contained in and expressed by the lived experience of the disabled nonresearchers. This chapter situates narrative allyship across ability in the landscape of other participatory research practices, with a particular focus on oral history as a social justice praxis.

Approach: In order to explore the potential of this practice, the author outlines and reflects on both the methodology of her oral history graduate thesis work, a narrative project with self-advocates with Down syndrome, and includes and analyzes reflections about narrative allyship from a self-advocate with Down syndrome.

Findings: The author proposes three guiding principles for research as narrative allyship across ability, namely that such research further the interests of narrators as the narrators define them, optimize the autonomy of narrators, and tell stories with, instead of about, narrators.

Implications: This chapter suggests the promise of research praxis as a form of allyship: redressing inequality by addressing power, acknowledging expertise in subjugated knowledges, and connecting research practices to desires for social change or political outcomes. The author models methods by which others might include in their research narrative work across ability and demonstrates the particular value of knowledge produced when researchers attend to the lived expertise of those with disabilities. The practice of narrative allyship across ability has the potential to bring a wide range of experiences and modes of expression into the domains of research, history, policy, and culture that would otherwise exclude them.

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Article
Publication date: 3 July 2017

Karen Dodd

The purpose of this paper is to consider the implications for people with Down’s syndrome and their families of identifying those people who are at risk of developing…

Abstract

Purpose

The purpose of this paper is to consider the implications for people with Down’s syndrome and their families of identifying those people who are at risk of developing dementia from the research study “Estimating the number of people with Down’s syndrome in Scotland and the cohort at elevated risk of early onset dementia”.

Design/methodology/approach

The commentary is based on a review of the associated literature.

Findings

Estimating the numbers is important but has serious implications for people who have an elevated risk and their families. Preparation and ongoing support and planning are vital to ensure that quality of life is maintained as dementia is identified and progresses.

Originality/value

The commentary considers the research presented from a practitioner perspective.

Details

Tizard Learning Disability Review, vol. 22 no. 3
Type: Research Article
ISSN: 1359-5474

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Book part
Publication date: 19 July 2018

Katharina Heyer

This paper examines the implications of the disability rights critique of prenatal testing on the development of genetic policy and abortion rights. It traces the…

Abstract

This paper examines the implications of the disability rights critique of prenatal testing on the development of genetic policy and abortion rights. It traces the reappearance of the disabled body in public deliberations over reproductive and genetic politics that use disability to frame arguments about which bodies are worthy of protection, how and why we limit reproductive choices, and what reasons women may use to terminate their pregnancies. The disability critique of prenatal testing and selective abortion finds itself in productive tension with reproductive rights politics, which increasingly features disability in both pro-life and pro-choice messages. The uneasy alliance between disability and pro-life interests has profound implications for both disability legal scholarship and the sociolegal inquiry into the role of rights articulation – and rejection – by social movements.

Details

Studies in Law, Politics, and Society
Type: Book
ISBN: 978-1-78756-208-0

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Article
Publication date: 1 September 2007

Jeremy Turk

The area of behavioural phenotype research and related clinical practice is now recognised as one of high relevance to all practitioners who help people with learning…

Abstract

The area of behavioural phenotype research and related clinical practice is now recognised as one of high relevance to all practitioners who help people with learning disabilities, whatever their age. Knowledge continues to accumulate rapidly regarding aspects pertaining to aetiology, likely developmental, emotional and behavioural challenges, useful multidisciplinary interventions and supports and long‐term prognosis. This paper reviews the concept, its history and recent developments, focusing on those aspects which are of particular importance to clinical and other care and support professionals and their clients. There is a continuing need for widespread dissemination of the large body of relevant information, and its application to practice in order to maximise benefits for people with learning disabilities and their families.

Details

Advances in Mental Health and Learning Disabilities, vol. 1 no. 3
Type: Research Article
ISSN: 1753-0180

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Article
Publication date: 1 October 2005

Judith McBrien, Sarah Whitwham, Karen Olverman and Stuart Masters

Given the now well‐recognised risk of Alzheimer's Disease (AD) for adults with Down's Syndrome (DS) as they reach middle age, services for people with learning disability…

Abstract

Given the now well‐recognised risk of Alzheimer's Disease (AD) for adults with Down's Syndrome (DS) as they reach middle age, services for people with learning disability (LD) need to meet this new challenge. Good practice guidance from the Foundation for People with Learning Disabilities (Turk et al, 2001) recommended that every service for people with learning disability should set up a register of adults with DS, conduct a baseline assessment of cognitive and adaptive functioning before the age of 30 years, develop specialist skills in this area, offer training to other professionals, front‐line staff and carers, and seek high‐quality co‐ordination between agencies. This article reports the progress of one LD service in meeting these challenges, highlighting the successes and difficulties that may guide other teams considering such a development.

Details

Tizard Learning Disability Review, vol. 10 no. 4
Type: Research Article
ISSN: 1359-5474

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Article
Publication date: 19 June 2021

Jacques Bellavance, Morin Diane and Catherine Mello

The behavioral phenotype of fragile X syndrome (FXS) and intellectual disability (ID) proposed by Hagerman et al. (2009) was primarily based on data from male children and…

Abstract

Purpose

The behavioral phenotype of fragile X syndrome (FXS) and intellectual disability (ID) proposed by Hagerman et al. (2009) was primarily based on data from male children and teens. The purpose of this study was to promote a better understanding of how this condition manifests in adults.

Design/methodology/approach

A total of 18 men of FXS were paired with men with Down syndrome on the basis of age and level of ID. A screening checklist was created on the basis of existing scales and the Hagerman et al. (2009) behavioral phenotype and completed by care providers.

Findings

Five of the 12 features of the phenotype were significantly more present among men with FXS than in men with Down syndrome.

Originality/value

This study provides partial confirmation for Hagerman et al.’s (2009) behavioral phenotype of FXS among men with moderate ID and identified some traits that warrant further investigation.

Details

Advances in Mental Health and Intellectual Disabilities, vol. 15 no. 2/3
Type: Research Article
ISSN: 2044-1282

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Article
Publication date: 15 July 2011

Gregory O'Brien and Ruth Bevan

This paper seeks to discuss the complexity of the relationship between genotype and phenotype and highlight the importance of a greater understanding of behavioural…

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Abstract

Purpose

This paper seeks to discuss the complexity of the relationship between genotype and phenotype and highlight the importance of a greater understanding of behavioural phenotypes in genetic syndromes. The aim is to explore the developmental trajectory of the behavioural phenotypes as individuals emerge from childhood into adulthood and beyond.

Design/methodology/approach

Information was gathered from a search of the relevant literature over the past 20 years using Medline and PsycINFO databases in May 2010 as well as information published in textbooks on this matter.

Findings

The outcomes were considered under five areas of functioning: cognition, communication, behaviour, social functioning and propensity to psychiatric illnesses. The research thus far suggests that outcomes in behavioural phenotypes in adults are extremely variable. Individual predictions are difficult to make. However, some trends do emerge.

Originality/value

Findings of particular interest are the rates of attention deficit hyperactivity disorder and autism spectrum conditions and how these change over the developmental trajectory. The paper highlights the need for further research in this area and discusses the need to view behavioural phenotypes as a continuum across the lifespan.

Details

Advances in Mental Health and Intellectual Disabilities, vol. 5 no. 4
Type: Research Article
ISSN: 2044-1282

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Article
Publication date: 9 November 2010

Jill Davies and Hazel Morgan

This article describes a project that explored the views, experiences and aspirations of young people with Down's Syndrome and their family carers. Each young person had…

Abstract

This article describes a project that explored the views, experiences and aspirations of young people with Down's Syndrome and their family carers. Each young person had gone or was going through the transition to adulthood. Following a scoping study, young people who were leading the lives of their choice, for example through use of person‐centred planning or direct payments, were interviewed, and their stories were published in a booklet. The next phase brought other young people and their families together in workshops to support them in planning for their future, based on the information from the booklet. Interviews with the young people and their families dispelled the myth that parents are obstacles to progress and change. All families actively supported their son or daughter to achieve their aspirations and had high expectations for them.

Details

Tizard Learning Disability Review, vol. 15 no. 4
Type: Research Article
ISSN: 1359-5474

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