Palliative Medicine:Scoping the level and extent of service provision to people with intellectual disability at end of life Poster Presentation

Background: Concerns exist about the end of life care
that people with intellectual disabilities receive. This population
are seldom referred to palliative care services and
inadequate data sets exist about their place of death.
Aim: To scope the extent of service provision to people
with intellectual disabilities at the end of life by specialist
palliative care and intellectual disability services in one
region of the United Kingdom.
Methods: As part of a larger doctoral study a regional survey
took place of a total sample (n=66) of specialist palliative
care and intellectual disability services using a postal
questionnaire containing forty items. The questionnaire
was informed by the literature and consultation with an
expert reference group. Data were analysed using SPSS to
obtain descriptive statistics.
Results: A total response rate from services of 71.2%
(n=47) was generated. Findings showed a range of experience
among services in providing end of life care to people
with intellectual disabilities in the previous five years, but
general hospitals were reported the most common place of
death. A lack of accessible information on end of life care
for people with learning disabilities was apparent. A few
services (n=14) had a policy to support this population to
make decisions about their care or had used adapted Breaking
Bad News guidelines (n=5) to meet their additional
needs. Both services recognised the value of partnership
working in assessing and meeting the holistic needs of
people with intellectual disabilities at end of life.
Conclusions: A range of experience in caring for people
with intellectual disabilities was present across services,
but more emphasis is required on adapting communication
for this population to facilitate them to participate in their
care. These findings could have international significance
given that studies in other countries have highlighted a
need to widen access to palliative care for this group of
people.

Disability and Participation in the Professions: Examples from Higher and Medical Education

Learners with disabilities remain under-represented in higher education and courses, such as medicine, that grant access to ‘the professions’. National and professional legislation, policy and guidance have changed over the last few decades in response to reforms in the way disability is viewed and valued by society. Principles of equal rights and equality of opportunity inform the negotiation of widened participation in the professions. However, drawing on the example of medical education, it is possible to see that widening articipation agendas may be insensitive to the needs of learners with disabilities. Analysing the development of practice and policy from a participation perspective suggests that tokenism may have played a role in deprioritising the voices of individuals with disabilities, rendering policy disconnected from the needs of marginalised groups. The concept of participatory parity may provide an opportunity to readdress this misrepresentation.

Audit report on Mental Health Disability Services of the East Central Region (MHDS-ECR) for the year ended June 30, 2015

Audit report on Mental Health Disability Services of the East Central Region (MHDS-ECR) for the year ended June 30, 2015

The Broader Impact of Disability Research: Aligning Public Policy with the Experiences of People with Disabilities and Healthcare Providers

Thesis (Ph.D.)--University of Washington, 2016-07

Evaluating the credibility of statements given by persons with intellectual disability

El objetivo del presente trabajo consistió en analizar las características diferenciales de los relatos emitidos por víctimas reales y simuladas con discapacidad intelectual ligera y moderada mediante el procedimiento de análisis de credibilidad de Control de la Realidad (RM). Dos evaluadores entrenados en los procedimientos de análisis de credibilidad mediante criterios de contenido evaluaron 13 relatos verdaderos y 16 relatos falsos. Los resultados encontrados muestran que existen pocas diferencias entre los dos tipos de relatos. Los únicos criterios que resultan significativos para discriminar entre los dos tipos de relatos son la cantidad de detalles y la longitud de las declaraciones espontáneas obtenidas mediante recuerdo libre. Ninguna de las características fenomenológicas examinadas resultó significativa para discriminar entre víctimas reales y simuladas. La representación gráfica mediante visualización hiperdimensional (HDV) considerando conjuntamente todos los criterios muestra una gran heterogeneidad entre relatos. Un análisis de conglomerados permitió clasificar los dos tipos de relatos con una probabilidad de acierto del 68.75 por ciento.

The Multi-Faceted Experience of Empathy in Intellectual Disability Settings: An IPA Study

This research thesis explored the concept of empathy. The specific purpose was to further understand the idea of empathy in relation to the experience of male support workers who provide residential care to adults with intellectual disabilities (ID) and challenging behaviour. The thesis aimed to provide some insights into how support workers develop and extract meaning from their experiences of relationships with clients and the impact of this on their own self-care, namely, self-compassion. Since personal accounts of experience were required, a qualitative methodology was employed, Interpretative Phenomenological Analysis (IPA) (Smith, 2004). This methodology was selected as it allows for the exploration and interpretation of idiographic lived experience and meaning making. 8 experienced support workers were interviewed using a semi structured interview. Four superordinate themes emerged from the data. These included: 1. Making sense of the others inner world; 2. Processes that enhance empathic practice; 3. Tensions and conflicts, and 4. Management of distressing feelings. Differing accounts of interpreting the needs of clients were identified which helped participants understand, make sense of their interpersonal experience and participate in their role. These included utilising academic knowledge and senses, particularly sight and hearing, which were seemingly complemented by a level of reflective practice. Additionally, to make sense of the experience of a client, they appeared to put themselves in their position, suggesting a form of empathy. Participants appeared to engage in a process of reflection on their relationships with clients, which helped them think about what they had learned about the person’s needs, moreover, this process enabled them to identify some of their own responses and feelings. However, participants seemed to struggle to recognise the occurrence or impact of distressing emotional experience and to express their feelings, possibly in response to a deep sense of responsibility and fear of transferring emotional distress to others. This dilemma of holding two potentially conflicting views of experience seemed to inhibit self-compassion. Although not specifically testing theories of empathy, from the overall findings, it could be suggested that empathy may be a dynamic, transient process that is influenced by reflexivity, values and context. The context in which participants discussed their practice, and situated within their accounts, suggested a sense of confusion and uncertainty. Consequently, it is suggested this impacted on how participants understood and related to clients, and to themselves. There were some specific implications for Counselling Psychology practice, mostly concerning training and supervision. These included recommendations for staff training and supervision, systemic organisational intervention, policy development, recommendations for revisions to models of specialist care frameworks and clinical training.

Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11

Purpose Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations. Methods Standard ophthalmic examination and investigation including visual acuity, refraction and fundus examination was carried out in all patients. Fundus autofluorescence imaging (FAF) was performed in three patients, and four patients underwent spectral domain optical coherence tomography (OCT). Flash electroretinography (ERG) was performed in seven patients, and five underwent additional pattern electroretinography (PERG). Results The patients ranged in age from 2 to 10 years. Most presented with visual acuity loss. Fundus examination revealed lacunae of chorioretinal atrophy. Pigmentary macular changes and optic disc pallor were present in three of seven patients. Fundus autofluorescence demonstrated hypoautofluorescence at the macula in two of three patients. The lacunae of chorioretinal atrophy were hypoautofluorescent. The OCT showed atrophic maculae in three of four patients. Follow-up in one patient showed no deterioration of the vision over a 9-year period. The lesions appear not to be progressive on the follow-up imaging. Electrophysiology showed generalized rod and cone dysfunction and severe macular dysfunction. Inner retinal dysfunction was evident in three of seven patients. Conclusions Patients with KIF11 mutations show a specific ocular phenotype with variable expressivity and intrafamilial variability. Macular atrophy and dysfunction have not been consistently documented before. The fundus lesions appear non-progressive. The findings assist in providing an accurate diagnosis and thus improving the management and follow-up of patients with this syndrome.

Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015 : a systematic analysis for the Global Burden of Disease Study 2015

Global, regional, and national disability-adjusted life-years (DALYs) for 315 diseases and injuries and healthy life expectancy (HALE), 1990–2015 : a systematic analysis for the Global Burden of Disease Study 2015

Promoting oral health in adults with learning disability

Introduction: It is complex to define learning disabilities, there is no single universal definition used; there are different interpretations and definitions used for learning disabilities in different countries and communities. Primarily, the term “learning disability” sometimes used as “learning difficulties” is a term widely used in UK. There are various types and degree of severity of learning disabilities depending upon the extent of disorder. Though different definitions used all over the world, its types and classification coupled with their health and oral health needs are discussed in this review. Objectives:  To review the background literature on definitions of learning disabilities and health needs of this population.  To review literature on individual clinical preventive intervention to determine the effectiveness in promoting oral health amongst adults in learning disabilities.  To review literature in relation to community based preventive dental measures.  To determine the interventions in this areas are appropriate to support policy and practice and if these interventions establish good evidence to suggest that the oral health needs of adults with learning disabilities are met or not.  To make recommendations in implementing future preventive oral health interventions for adults with learning disabilities. Methodology: It was develop a comprehensive narrative synthesis of previously published literature from different sources and summarizes the whole research in a particular area identifying gap of knowledge. It provides a broad perspective of a subject and supports continuing education. It also is directed to inform policy and further research. It is a qualitative type of research with a broad question and critical analysis of literature published in books, article and journals. The research question evaluated on PICOS criteria is: Effectiveness of preventive dental interventions in adults with learning disabilities. The research question clearly defines the PICOS i.e. participants, interventions, comparison, outcome and study design. The Cochrane database of systematic reviews (CDSR), Database of Abstracts of Reviews of effects (DARE) through York University and National institute of Health and Clinical Excellence (NICE) was searched to identify need of this review. There was no literature review found on the preventive dental interventions found hence, justifying this review. The guidance used in this review is from York University and methods opted for search of literature is based on the following: Type of participants, interventions, outcome measure, studies and search. The review of literature; author search; systematic and narrative reviews, through the following electronic databases via UFP library services: Pub-Med, Medline, EMBASE, CINHAL, Google scholar; Science Direct; Social and Medicine. A comprehensive search of all available literature from 1990-2015, including systematic reviews, policy documents and some guideline documents was done. Internet resource used to access; Department of Health, World Health Organization, Disability World, Disability Rights Commission, the Stationery office, MENCAP, Australian Learning Disability Association. The literature search was carried out with single word, combined words and phrases, authors' names and the title of literature search. Results: It is primarily looking at the oral health interventions available for adults with learning disabilities in clinical settings and the community measures observed over a period of 25 years 1990-2015. There were 7of the clinical intervention studies and one community based intervention study was added in this review. Conclusion: There is a gap of knowledge identified in not having ample research in the area of preventive dental interventions in adults with learning or intellectual disabilities and there is a need of more research, studies need to be of a better quality and a special consideration is required in the community settings where maintenance of oral hygiene for this vulnerable group of society is hugely dependent on their caregivers. Though, the policy and guideline directs on the preventive dental interventions of adults with LD there still a gap evident in understanding and implication of the guidance in practice by the dental and care support team. Understanding learning disabilities and to identify their behavior, compliance and oral health needs is paramount for all professionals working with or for them at each level.

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity.

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, cerebellar ataxia, early-onset cerebellar atrophy, sensorineural hearing loss, and the distinctive association of progressively coarsening facial features, relative macrocephaly, and the absence of seizures. We used homozygosity mapping and whole-exome sequencing to identify a homozygous nonsense mutation and an in-frame multiexon deletion in two families. A homozygous splice site mutation was identified by Sanger sequencing of SNX14 in a third family, selected purely by phenotypic similarity. This discovery confirms that these characteristic features represent a distinct and recognizable syndrome. SNX14 encodes a cellular protein containing Phox (PX) and regulator of G protein signaling (RGS) domains. Weighted gene coexpression network analysis predicts that SNX14 is highly coexpressed with genes involved in cellular protein metabolism and vesicle-mediated transport. All three mutations either directly affected the PX domain or diminished SNX14 levels, implicating a loss of normal cellular function. This manifested as increased cytoplasmic vacuolation as observed in cultured fibroblasts. Our findings indicate an essential role for SNX14 in neural development and function, particularly in development and maturation of the cerebellum.

THE CONTRIBUTION OF THE GEOGRAPHY OF DISABILITY TO THE DEVELOPMENT OF ‘ACCESSIBLE TOURISM’

The article presents an outline of the evolution of the geography of disability (since the 1930s) taking into account significant issues in the creation of theoretical foundations as well as practical action in ‘accessible tourism’. It may be considered a review. Based on an analysis of literature, the first section presents a definition of ‘accessible tourism’ and the development of the geography of disability, the result of which is the geographical model of disability. The second section is a synthetic presentation of the effect of geographical research on the development of theoretical accessible tourism concepts and their implications in practice. The final conclusions highlight the need to identify the level of detail in universal design principles applied to buildings, spaces, services, which are to fulfil the criteria of accessibility for people with various types of disability.

Essays on the Effects of Social Insurance for Disability

This dissertation examines how social insurance, family support and work capacity enhance individuals' economic well-being following significant health and income shocks. I first examine the extent to which the liquidity-enhancing effects of Worker's Compensation (WC) benefits outweigh the moral hazard costs. Analyzing administrative data from Oregon, I estimate a hazard model exploiting variation in the timing and size of a retroactive lump-sum WC payment to decompose the elasticity of claim duration with respect to benefits into the elasticity with respect to an increase in cash on hand, and a decrease in the opportunity cost of missing work. I find that the liquidity effect accounts for 60 to 65 percent of the increase in claim duration among lower-wage workers, but less than half of the increase for higher earners. Using the framework from Chetty (2008), I conclude that the insurance value of WC exceeds the distortionary cost, and increasing the benefit level could increase social welfare. Next, I investigate how government-provided disability insurance (DI) interacts with private transfers to disabled individuals from their grown children. Using the Health and Retirement Study, I estimate a fixed effects, difference in differences regression to compare transfers between DI recipients and two control groups: rejected applicants and a reweighted sample of disabled non-applicants. I find that DI reduces the probability of receiving a transfer by no more than 3 percentage points, or 10 percent. Additional analysis reveals that DI could increase the probability of receiving a transfer in cases where children had limited prior information about the disability, suggesting that DI could send a welfare-improving information signal. Finally, Zachary Morris and I examine how a functional assessment could complement medical evaluations in determining eligibility for disability benefits and in targeting return to work interventions. We analyze claimants' self-reported functional capacity in a survey of current DI beneficiaries to estimate the share of disability claimants able to do work-related activity. We estimate that 13 percent of current DI beneficiaries are capable of work-related activity. Furthermore, other characteristics of these higher-functioning beneficiaries are positively correlated with employment, making them an appropriate target for return to work interventions.