Search

The UK's Transforming Care programme has aimed to reduce the number of people with intellectual disabilities being placed in mental health hospitals. However, a lack of good quality community provision has been linked to delays the discharge, as well as community placement breakdown and hospital readmission. Recent UK government plans recognise the importance of the perspectives of people with intellectual disabilities in developing better community support. However, the voices of people who have moved through Transforming Care are largely absent from the research being built around its long-term impacts. There is therefore limited in understanding on the factors that support this group of people to have a good quality of life in the community. The current study used a qualitative design to explore the everyday experiences of people with ID who have moved out of hospital through Transforming Care from their own perspective, in order to deepen the understanding of what enhances/undermines their QoL in the community. It had a secondary aim to understand the impact of the Coronavirus pandemic on this group of people's everyday lives. Data was used from the existing Making Positive Moves research programme (The University of Hertfordshire), including 19 semi-structured interviews from 10 people. Key Support People, who knew the person well, supported people in some of the interviews (n=7). Using thematic analysis, four main themes were developed in relation to how participants spent their everyday lives, including 'Leisure', 'Work', 'Personal Development', and 'Connecting with Others'. In addition, six main themes were developed in relation to the more in-depth meaning given to everyday experiences: 'The Value of Autonomy', 'The Continued Impact of Hospital', 'The Value of Supportive Relationships', 'Safety through Support', 'Being Included', and 'The Importance of Giving to Others'. A novel finding was that support (most notably from staff working with the individuals) was key in supporting people to be autonomous following a move from hospital. The Coronavirus pandemic was found to have a range of impacts of people's activities and wellbeing and seemed to have a more neutral/less significant impact for some. A number of clinical implications are discussed, relevant for staff working with adults who have moved out of hospital through Transforming Care.

Cognitive assessment is frequently used in the process of the diagnosis of intellectual disability (ID) in adults. However, there is little known about the subjective experience and discourses surrounding this process of assessment. This study therefore aims to explore this experience, and the specific discursive devices utilised by people when describing the experience, from the perspective of adults with ID. Information was gathered using semi-structured interviews with four clients with a recently diagnosed ID. These were analysed using both Interpretative Phenomenological Analysis (IPA) and Discourse Analysis (DA), to examine various aspects of discourse alongside the phenomenological experience. The IPA results highlighted a variety of experiences that participants had and suggested that they did not experience their tests as emotionally neutral. For example, participants described experiences of disconnected services, namely through having seen various professionals over the assessment period, having experienced multiple similar types of assessment over their lifetime, and through experiencing poor communication from services. Participants experienced their assessors as being nice, empathetic, and listening to them, and were left with a feeling of hope that they would get support. However, there was also confusion about the purpose of the assessment and surrounding what the outcomes would be. DA results examined the language and discursive devices used by participants within the discussions about their experience. This latter part of the analysis revealed four main themes, namely surrounding the system holding the power, reliance on others, resilience, and having to do something versus choosing to do it. The results of this study are considered in the context of the surrounding literature. Potential implications and suggestions for future research are also discussed.

Systematic Literature Review: Twenty-three studies evaluating the psychometric properties of twelve attachment measures were systematically reviewed to examine their reliability and validity for adults and children with intellectual disabilities (ID). The COSMIN appraisal tool was used to evaluate methodological quality of the studies and to evaluate psychometric properties. Evidence was found of good internal consistency and test-retest reliability but inconsistent inter-rater reliability and construct validity. Methodological quality of the studies ranged from 'inadequate' to 'very good'. The findings of a small but growing evidence base were promising, however highlighted the importance of clinicians using attachment measures with people with ID with caution. Limitations were raised in relation to validity and reliability of observational measures with people with ID and in particular the Strange Situation Procedure. Further research is needed in relation to all psychometric properties and particularly test-retest reliability and construct validity. Research Paper: Interpretative Phenomenological Analysis was used to explore adoptive mothers' experiences of their child being diagnosed with an intellectual disability post-adoption. Three Group Experiential Themes were developed: 'Trauma of Intellectual Disability: something is 'not quite right' highlighted experiences of loss and betrayal; 'isolation and marginalisation: 'your world becomes smaller' captured experiences of isolation from social networks and feelings of powerlessness; and 'growth and resilience' illustrated mothers advocating for their child and holding on to hope for the future. Themes were discussed in relation to existing literature and highlighted the importance of professionals acknowledging experiences of loss and grief and offering more post-diagnostic support to families of children with intellectual disabilities. Mothers' experiences of gravitating towards people with shared experiences illustrated that it may be helpful for adoption and learning disability services to connect families to peer workers with lived experiences.

Behaviours that challenge (BtC), such as self-injurious behaviour (SIB), aggression and destruction of property (DoP), are common in people with intellectual disability (ID). These can be persistent with significant negative impacts, thus, delivery of early interventions is critical. A meta-analysis was conducted to establish the efficacy of interventions for topographies of BtC (SIB, aggression, DoP, irritability, total BtC). Interventions for the reduction or prevention of BtC in people with ID evaluated utilising a randomised control trial design were included. Intervention, methodological and participant characteristics were examined as potential moderators. Small to moderate intervention effects were identified across topographies of BtC. Study design, pharmacological medication type and duration of intervention were associated with aggression outcomes. IQ scores were associated with irritability outcomes. Critically, no significant differences were found for non-pharmacological versus pharmacological interventions. To inform delivery of preventative interventions, correct identification of individuals at risk of BtC is required. This was the focus of the empirical paper. Prediction models of risk for topographies of BtC (SIB, aggression, DoP, any BtC) were generated utilising known risk markers and machine learning approaches. The models showed fair to good recall and precision. Application of these models to longitudinal data indicated good ability to detect persistence and incidence of behaviour over 12 months. The results of the meta-analysis and empirical paper have important implications that may guide the provision of interventions for BtC in clinical practice. Specifically, non-pharmacological interventions are efficacious in reducing BtC and should be considered as the primary response to BtC given their greater long-term efficacy and lower side effects relative to pharmacological approaches. Further, the delivery of interventions may be informed by prediction models of risk. This would allow services to move towards a proactive rather than reactive healthcare system for individual with ID showing or at risk of showing BtC.

The neurodiversity movement has gained momentum in the last number of years with many neurodevelopmental conditions now being part of a person's identity and not just medical disorders. With this, more researchers have become interested in the experiences of neurodiverse people as well as their families and carers. However, some people have remained neglected in the literature including autistic women and the siblings of people with disabilities. We conducted a systematic review into the experiences of siblings of people with learning disabilities and a novel qualitative study focusing on the experiences of autistic women and mothers of autistic daughters going through the diagnostic process. Several themes were elicited and discussed, giving voice to these often overlooked groups. Results show that the siblings and women engaging in the diagnostic process for autism had unique experiences and these people's perspectives offer an interesting insight into how neurodiverse people can be supported. Implications for future research and practice are discussed.

People with intellectual disabilities are at greater risk of experiencing trauma than the general population, yet models such as trauma-informed care have not consistently reached intellectual disability services. Professional carers can play an important role in the lives of service users and are well placed to provide meaningful person-centred support with those who have experienced trauma. However, little is known about carers' perceptions and experiences of this work. This study aims to explore professional carers' experiences of supporting individuals with an intellectual disability who have experienced trauma, considering any strengths and challenges of this work. Seven professional (paid) carers completed semi-structured interviews which were analysed using Interpretative Phenomenological Analysis (IPA). Three group experiential themes were identified: Navigating inner conflict and uncertainty; A give and take dynamic; and Seeking support. Participants highlighted the desire and need for more training regarding trauma and the importance of workplace support to help with the tensions and uncertainty in their practice and the difficult emotional impact of this work.

This research examined the implementation of legalprotection of mentally and intellectually disabled children (MIDC) from the useof violence against their person in the family, home and closed community inNigeria. The research was conducted from a social-realist based framework,examined and sought to understand the impact of legal provisions based oninteraction with society and how the law operates in practise. The researcheraligned with the assumption that the law is not self-implementing, but dependenton human actors for actualisation of effective implementation. The research wasfocused on Lagos state Nigeria, a non-western, developing nation in the globalsouth as a case study and was undertaken in response to calls for further andbetter research into violence against disabled children in non-western low-midincome developing countries. The concept of disability in disability studies,intersectionality and legal pluralism were deployed as frameworks forconducting the research. The theories deployed all support interpretivequalitative empirical enquiry and the method of semi-structured interviewsadopted in conducting this research. Original contributions to the body of knowledge includedproviding new empirical data on detail and context of implementation ofprotection of MIDC from violence in Nigeria from the perspective of variousprofessional and cultural actors, examination of the impact of socio-culturaland religious factors on legal protection of MIDC from violence and providedinsight into the possibility of how the law may be manipulated for theadvancement of personal interest or agenda, based on the existence of legalpluralism. Findings demonstrated that the implementation andenforcement of MIDC's right to protection from violence is influenced bysocietal religious and customary beliefs including the beliefs of thoseentrusted with implementation and enforcement of the law and demonstrated thatthe intersection of childhood and MID has a negative impact on protection ofMIDC from violence.

The purpose of this research study is to explore the question, "How are people with profound intellectual disabilities perceived as disciples of Jesus Christ?" Throughout evangelical history the development of discipleship theologies have neglected to consider the spiritual lives of people with profound intellectual disabilities and how their experiences might contribute to an evangelical discipleship theology. The historical development of evangelicalism is investigated and particular themes are uncovered that make it difficult for people with profound intellectual disabilities to be perceived as followers of Jesus. In addition, modern theologies of evangelical discipleship contribute to particular ministry strategies and practices that rarely consider the presence of people with profound intellectual disabilities. This study is a work of practical theology that employs qualitative research methods utilizing a narrative approach and multiple qualitative methods, including focus groups, in depth interviewing, and observational research. Findings from the qualitative research project present the results of focus groups with evangelical pastors, in depth interviews with family members of people with profound intellectual disabilities, and observational research with two local evangelical congregations. These findings present theological categories and questions that necessitate theological reflection. Categories and themes such as the recognition of a disciple of Jesus, the recognition of the Body of Christ, suffering and hardship, and discovering a life of purpose. Theological reflection then reveals that a broader theology of discipleship is needed within popular 2evangelicalism that includes the spiritual lives of people with profound intellectual disabilities. This broader theology can only be achieved through embracing a renewed emphasis on a theology of the cross to address hardship and suffering, and by being held in the trustful love of God that seals our eternal purpose in His kingdom.

Gender identity is a highly important determinant of health, but little is known about the gender identity of people with intellectual disabilities (ID). The feminisation of ID services and disproportionate number of female compared to male support workers may be problematic for the development of masculinity for males with ID. Research has shown that the gender of support staff affects the type of care provided, either promoting or hindering quality of life. No study has explored the self-reported experiences of both staff and male service users around issues related to gender and masculinity and support in this area. The present qualitative study therefore aimed to further understanding of this under-researched area. Separate semi-structured interviews were conducted with 5 men with ID and their support workers. Interview data were analysed using Interpretative Phenomenological Analysis. The analysis produced three main themes: (1) Understanding of gender and identity, (2) Barriers to support with developing gender identity, (3) Facilitating factors to developing gender identity. Being a man was an important and positive aspect of life for all men with ID, however, they struggled to be recognised as gendered individuals because the ID identity can overshadow gender identity. The development of gender identity can be hindered by stigma, internalised oppression, and ID service constraints and priorities. If the Government's objective to support people with ID to develop valued social identities through inclusion in society is to be met, these barriers must be addressed. The facilitators and barriers to gender identity development highlighted by the study enable practical suggestions for improving support in this area, with the aim to close the current gap between policy and practice.

The aim of this study was to explore the understandings and experiences of self-determination of a group of Mexican young adults with intellectual disability, in particular, how self-determination could be promoted or hindered in dialogue. In this research self-determination is understood in terms of a person's conscious and intentional decision-making in interaction with a supportive context of opportunities and encouragement. Self-determination theories emphasise interaction and relationality. Moreover, educational programmes to promote self-determination of young adults with intellectual disability commonly rely on interaction between students and educators to set goals and make plans to achieve them. Yet published studies tend to follow individualistic approaches and employ methods that fail to attend to the interaction and relationality of self-determination, and to the young people's voices and perspectives. The current project aims to contribute to the field of self-determination, internationally and specifically in Latin America where studies on the self-determination of young adults with intellectual disability are scarce. This project also aims to contribute to the field of dialogic theory which has highlighted the need to widen and deepen the understanding of dialogic education through the inclusion of diverse perspectives, and yet has until now left aside the voices and perspectives of people with intellectual disability. This research involved 10 Mexican young adults with intellectual disability who are students at the university-based transition programme: Building Bridges. I facilitated group discussions with these students and three teachers around topics that were of the students' interest. I also observed naturally occurring interactions of these students with other people in university, work and independent-living contexts. Fieldnotes and verbatim transcriptions were generated. Thematic analysis of the data generated led to the development of six themes that interplay in the students' decision-making process: decisions, aspirations, preparation, challenges, self-advocacy and supports. Sociocultural discourse analysis of conversations about the students' 'Challenge of the Month' goals showed how the students' agency (i.e., intentional decision-making) is negotiated in the interaction and how students' volition (i.e., conscious decision-making) could be promoted through dialogic interactions. Potential constraints on students' agency and volition development are evident when discussions of concrete courses of action are prioritised over discussions that would lead students to reflect more deeply on the motives behind their goals, and when educators fail to delve into the students' aspirations and decisions and instead propose other 'more viable' options straightaway. This dissertation upholds the importance of studying self-determination as a contextual and relational phenomenon which could be promoted or hindered in dialogue. The findings may encourage educators and researchers to create opportunities for engagement in dialogic interactions with young adults with intellectual disability in order to collaboratively reflect on important life decisions and aspirations and thus promote self-determination.

Critical Review of the Literature: Background: Positive Behavioural Support (PBS) based interventions for challenging behaviour should be routinely monitored and evaluated through the use of outcome measures. For PBS based interventions to develop and evolve, outcome measures must expand from only measuring behaviour change to measuring the broader issue of quality of life. It is essential that these measures are psychometrically robust. Method: A systematic search was performed across four electronic databases to identify measures of challenging behaviour and quality of life. Measures were included if they were developed for adults with intellectual disabilities and reported psychometric properties in the original paper or subsequent validation studies. Measures were critically evaluated on their psychometric properties (specifically their reliability, validity, responsiveness and on their acceptability, feasibility, and precision). The Characteristics of Assessment Instructions for Psychiatric Disorders in Persons with Intellectual Developmental Disorders (CAPs-IDD) and established psychometric criteria guided the quality appraisal. Results: Twenty-one measures were identified, all with varying levels of psychometric robustness. The Health of the Nation Outcome Scales for People with Learning Disabilities, Caregiver's Concerns-Quality of Life Scale, Behaviour Problem Inventory-Short, and the Choice Questionnaire were rated as having the strongest psychometric properties. Conclusions: A combination of measures is recommended for services to use at an individual and service level for evaluating PBS based interventions. Further research is required to replicate these findings and develop new psychometrically robust instruments. Service Improvement Project: This project aimed to explore clinicians' views on current memory assessment processes and to evaluate the feasibility of a new assessment process, combining high quality assessment (including an MRI scan) with research opportunities, delivered by the Brain Health Centre (BHC). A two-part (pre- and mid- pilot) qualitative design was implemented and nine clinicians took part in semi-structured interviews. Thematic analysis was used to analyse the data. Findings from pre-pilot analysis suggested that memory clinics needed to be updated and clinicians were hopeful the BHC would help improve diagnosis of dementia. Other themes developed focused on the importance of improving patient care and post-diagnostic support. Themes from mid-pilot data included the impact of Covid-19 on service delivery, and the initial outcomes of the BHC pilot, including a process of refinement and learning. Clinicians reported on the strengths of the pilot and areas for improvement when considering expanding the roll-out of this new service. Main Research Project: Background: People with Intellectual Disabilities (ID) often face barriers accessing psychological interventions - particularly in mainstream services. This can be due to a lack of reasonable adjustments, including the absence of adapted versions of routine outcome measures. Adapted versions of the Patient Health Questionnaire-9 (PHQ-9) and the Generalised Anxiety Disorder -7 (GAD-7) have been created for adults with ID and this study investigated their psychometric properties. Method: The adapted PHQ-9 and GAD-7 and the Glasgow Depression and Anxiety Scales (GDS-ID, GAS-ID) were administered to 47 adults with ID. Twenty-one participants formed the clinical group and 26 formed the community group to test for discriminant validity. Concurrent validity was tested by correlating the adapted PHQ-9 and GAD-7 with the GDS-ID and GAS-ID. Reliability was investigated by internal consistency and test-retest analysis. Results: The adapted PHQ-9 and GAD-7 were able to discriminate between the clinical and community sample in terms of the total score on the depression and anxiety measures. Participants in the clinical sample scored significantly higher on the adapted PHQ-9 (t (45) = - 2.28, p = .03, 95% CI [-7.09, -.45]) and GAD-7 (t (45) = -3.52, p = .001, 95% CI [-7.44, -2.02]) than participants in the community sample. The adapted PHQ-9 correlated with the GDS-ID(r (47) = .86, p &lt .001) and the adapted GAD-7 correlated with the GAS-ID (r (46) = .77, p&lt .001). The adapted PHQ-9 (Cronbach's a=.84, ICC=.91) and the adapted GAD-7 (Cronbach's a=.86, ICC=.77) had good internal consistency and good test-retest reliability. Conclusions: The adapted PHQ-9 and GAD-7 appear valid and reliable measures to use in routine clinical practice.

The thesis is inclusive of a Systematic Review and Large Scale Research Project, focused on the experiences of the Criminal Justice System. 1. Systematic Review - The experiences and perceptions of the criminal justice system as reported by individuals with an intellectual disability and their families: A systematic review and thematic synthesis of the qualitative literature. 2. Large Scale Research Project - Healthcare staff working in prisons: A quantitative investigation of the correlated between self-harm exposure and professional quality of life in those caring for individuals who engage in deliberate self-harm.

Change is part of our life journey and we all experience different transitions throughout our lives. However, people with intellectual disabilities often experience a lack of control and involvement in transition planning and transition processes. Within the current literature there is a focus on early transition experiences, such as people's school years, while adulthood remains a lesser researched chapter in the lives of people with intellectual disabilities. Furthermore, most studies focus on those with mild or moderate intellectual disability and people with severe or profound intellectual disabilities are often excluded from research. In relation to those with severe or profound intellectual disability, transition processes pose questions about decision-making capacity and how to facilitate involvement and participation. A systematic review of the transition from school to adult services for young people with severe intellectual disabilities highlighted the importance of a life-course understanding to transitions, as well as highlighting gaps in relation to (1) the absence of multiple perspectives, even though transition processes involve multiagency decision-making, (2) a lack of involvement of young people and adults themselves within the research process and (3) a lack of focus on transitions as processes that operate across different ecological levels. Building on the identified gaps this thesis presents three interlinked studies that explore transitions across people's adult lives. Namely, (1) the transition from school to adult services, (2) transitions within adult services such as moving out of the family home and (3) transitions in old age. Qualitative case study methodology was used in combination with approaches from ethnography, life story research and framework analysis. The first two studies followed six adults on their transition journeys and data collection involved observations, document reviews and interviews with families and professionals involved in each case. One of the main aims of my PhD was to involve people with severe intellectual disabilities in the research process and it was hoped that through the use of different data sources young people and adults would be more present in the research process compared to previous studies. The third study explored transitions in old age through interviews with social care professionals in two distinct social care settings, where adults with intellectual disability and staff lived together within a life-sharing model. The findings of my PhD confirm the value of a life course perspective and demonstrate that transitions are complex processes that occur across, and are influenced by, different systems. Additionally, my findings emphasise the importance to consider relationships and support networks that are available to people with severe intellectual disability within their adult lives when planning and supporting transitions. Questions are raised in relation to the role of professionals and services in the lives of adults, particularly once parents are no longer able to advocate on behalf of their children. Furthermore, the need to reconceptualise participation from a relational and interdependent perspective is stressed to facilitate the involvement of people with severe intellectual disabilities within decision-making processes. Further research is needed that explores the everyday life experiences of this particular group and that includes people within the research process.

Maternal smoking has known adverse effects on fetal development. However, research on the association between maternal smoking during pregnancy and offspring intellectual disability (ID) is limited, and whether any associations are due to a causal effect or residual confounding is unclear. The association was investigated using two intergenerational cohorts, each with over 1 million individuals with data held in the Danish and Swedish registers, and using a prospectively collected pregnancy cohort of approximately 15,000 mother and child pairs in the United Kingdom. Observational analyses were performed in each cohort using regression analyses adjusted for potential confounders. Sibling comparisons, negative control analyses, and Mendelian randomisation (MR) were used to provide evidence about the causal nature of the association. Simulation studies were conducted to investigate the nature of biases arising from assortative mating in the negative control design and from the proportion of missing data in multiple imputation analyses, a method to account for missing data. Observational analyses provided evidence for an increased risk of ID in children of mothers who smoked during pregnancy. Sibling comparison models decomposed this population averaged effect to reveal a null within-family effect while negative control analyses showed comparable effect estimates for maternal and paternal smoking during pregnancy. MR analyses also did not provide evidence of a causal effect. The results of analyses contained within this thesis are not consistent with a causal effect of maternal smoking during pregnancy on offspring risk of ID. By combining evidence across different analysis methods, results suggest that prior observational associations were the result of unmeasured genetic or environmental characteristics of families in which the mother smokes during pregnancy.

Autism spectrum disorders and intellectual disabilities (ASD/ID) are estimated to a↵ect approximately 3-5% of the population. Genetic factors constitute a major risk factor in ASD/ID, accounting for 40 to 50% of cases, with monogenic forms of syndromic ASD representing 5% of cases. Many of the genetic causes of ASD/ID are thought to share common phenotypes at the cellular level, thus animal models of monogenic forms of ASD/ID provide a valuable tool to better understand the underlying pathophysiology of these disorders. In this thesis I examined two rodent models of monogenic forms of ASD/ID associated with developmental delay, impaired cognitive function and epilepsy, namely CDKL5 deficiency disorder (CDD) and Fragile X Syndrome (FXS). First, I examined synaptic function and intrinsic excitability in the hippocampus of a novel Cdkl5 knock-out (Cdkl5-/y) rat model of CDD. I show an increase in long-term potentiation (LTP) in the hippocampus of Cdkl5-/y rats, consistent to what has previously been reported in mouse models of this disorder. I extend this finding by using a combination of electrophysiological and histological techniques to assess the properties of pre-synaptic neurotransmitter release together with multiple post-synaptic mechanisms that may contribute to the observed Cdk-/y phenotype. Intriguingly, I demonstrated that many of the mechanisms that have been postulated to underlie enhanced LTP are not altered in Cdkl5-/y rats when tested at the single cell level, including changes in AMPAR/NMDAR ratios and increased expression of Ca2+-permeable AMPA receptors. Second, I examined the contribution of the axon initial segment (AIS) to the cellular hyperexcitability of CA1 pyramidal cells in the Fmr1-/y mouse model of FXS. I show that increased AIS length in CA1 pyramidal cells in Fmr1-/y mice is associated with cellular hyperexcitability. I show that depolarisation induced AIS plasticity is unaltered in Fmr1-/y mice is associated with cellular hyperexcitability. I show that depolarisation induced AIS plasticity is unaltered in Fmr1-/y mice, despite an observed reduction in synaptic transmission of EC inputs. In the final chapter of this thesis, I built on my findings in the hippocampus of Fmr1-/y mice, despite an observed reduction in synaptic transmission of EC inputs. In the final chapter of this thesis, I built on my findings in the hippocampus of Fmr1-/y mice. I found the AIS developmental trajectory to be a↵ected in a layer specific manner, with Fmr1-/y mice exhibiting a typical developmental profile in L2/3 and 5 but altered AIS development in L4. However, I did not observe an e↵ect of visual deprivation on AIS length or cellular excitability in either genotype. In summary, this thesis provides insights into the cellular excitability and synaptic physiology in two rodent models of monogenic ASD/ID. I further our existing understanding of rodent models of CDD by characterising hippocampal synaptic and intrinsic physiology in a novel rat model of this disorder, highlighting the need for the identification of robust cross species phenotypes that can be used as potential biomarkers and therapeutic targets in CDD. Furthermore, I put forward the notion of AIS regulation as a contributor to the underpinning of cellular excitability in rodent models of FXS. Additionally, this work contributes to the growing body of evidence showing that compensatory mechanisms have a major contribution to the phenotypes observed in rodent models of ASD/ID, and which should be taken into consideration when developing potential treatment strategies.

Background: Previous studies have suggested that paid and family carers’ practical responses, or helping behaviour, can influence the development and maintenance of behaviours that challenge. Therefore, it is important that we understand how best to support carers to respond in a helpful way at times of difficult to manage behaviour. This thesis portfolio comprises of two main sections. The first section involves a systematic review which utilises Weiner’s Attributional Model of Helping Behaviour (1985) as a framework to explore attributions and emotions. These factors are proposed to influence paid and family carers’ willingness to help a child or adult with an intellectual disability (ID) and behaviours that challenge. The second section involves an empirical study which aims to explore the qualitative experiences of family carers looking after an adult relative with an ID and behaviours that challenge. There is a lack of knowledge relating to the experience of family carers, with existing research focusing primarily on the experiences of paid carers, using quantitative methodology. Method: The review involved a thorough search of online databases and reference lists to identify relevant articles, as defined by predetermined eligibility criteria. Fifteen articles were identified, which were synthesised and evaluated using an adapted quality rating scale. The empirical study involved conducting semi-structured interviews with nine family carers about their lived experience of caring for an adult relative with an ID and behaviours that challenge. Interviews were recorded, transcribed and analysed using interpretive phenomenological analysis (IPA). Results: The systematic review found evidence that emotions were associated with helping behaviour, however evidence that emotions acted as a mediating variable between attributions and helping behaviour was inconclusive. There was evidence of an association between carer’s optimism that the behaviour will change and the likelihood of offering help to a person, however optimism for change was not measured across studies. From the empirical study analysis, five subordinate themes emerged from the interviews; ‘searching for the reason’, ‘negative emotions and behaviours that challenge’, ‘tag-team approach – stronger together, ‘limited support’ and ‘impact of caring’. Included in this were seven subthemes. Discussion: Studies included in the review provided, at best, partial support for Weiner’s model and offered limited understanding of carer’s responses to behaviours that challenge. A number of theoretical and methodological limitations of Weiner’s model and of the studies that have explored the model are described. As a result, these findings are not generalisable to real-life caregiving situations, particularly to those looking after an adult relative with an ID. This review found a lack of studies related to family carers, despite this being a population that also provide a significant amount of care and support at times of behaviours that challenge. Study limitations, implications for clinical practice and recommendations for future research are discussed.

From the relatively early descriptions of fragile X syndrome, it was recognised that there were differences in social communication, which overlapped or mirrored those seen in idiopathic autism. And in parallel, genetic screening of individuals with autism revealed fragile X syndrome as a leading inherited cause of autism. Reviewing the literature of both of these conditions; it is obvious that although as clinical entities they include individuals with varying degrees of cooccurring intellectual disabilities or impairments, the existing literature has largely included those who are more, or most, intellectually able. This is particularly so in brain imaging research, largely by reason of the significant challenges of the imaging environment, with many of the challenges of having a scan corresponding with particular difficulties for the individuals; e.g. the noise of the scanner being of particular difficulty for those with sensory hypersensitivities (common in fragile X syndrome and autism). In the current study, functional brain imaging was used to investigate the role of autism in the processing of facial emotions in two cohorts – one with special educational needs and one with fragile X syndrome. Particular consideration was given to whether the emerging patterns of activations in any way mirrored those seen in the extant literature and whether to any degree it could be considered that autism in the context of lower cognitive ability (be that by virtue of idiopathic intellectual impairment or a known single-gene disorder) has the same underlying neural correlates as in individuals of average or above average intellect. In a group of individuals with special educational needs, it was found that those with high autistic traits had a region of hyperactivation to neutral faces in the right rolandic operculum; replicating a finding previously described in a metaanalysis of prior functional imaging studies in individuals with autism and of average or enhanced cognitive ability. In parallel, the sub-group with low autistic traits had a cluster of significantly greater activation in the left supramarginal gyrus / angular gyrus in response to fearful facial stimuli compared to the autistic sub-group. This pattern of relative hypo-activation in individuals with autism to emotional stimuli is typical of the existing literature in autism and adds further weight to the idea that, at least in part, individuals with autism of lower cognitive ability show similar changes in neural function. In a group of individuals with fragile X syndrome, those with high autistic traits had a cluster of significantly lower brain activation in the left superior temporal gyrus / left supramarginal gyrus in response to fearful faces when compared to those with low autistic traits. This cluster overlapped previous findings in both the fragile X literature, but also prior work in the broader autism literature, suggesting that autism in the context of a monogenic form of ID may have similar neurobiological correlates as seen in idiopathic autism. The results from this study show firstly that imaging individuals with significant cognitive impairments is feasible. Secondly, the results suggest that autistic individuals who have concurrent intellectual impairments share some of the same patterns of brain function as seen in autistic individuals of average or enhanced cognitive ability, who are most commonly recruited for brain imaging studies. Finally, the results suggest that autistic traits in the context of fragile X syndrome are associated with brain activation differences, which overlap those previously described in idiopathic autism. Further research is necessary to quantify the nature and degree of this overlap more fully.

Background: Law and policy place responsibility on services and staff to uphold sexuality rights and needs amongst adults with an intellectual disability (ID). However, little is known about how wider views of ID and sexual and personal relationships might affect social care workers’ (SCWs) attitudes, beliefs and behaviour towards support for such needs. Aim: This study explored the views of SCWs (working in adult community living settings and day services) on how perceived social perceptions of ID might affect their own attitudes, beliefs and behaviours towards support for personal and sexual relationships amongst adults with an ID. Method: The study adopted a mixed methods approach with 18 semi-structured qualitative interviews based on critical incident technique (CIT) at stage one. Findings from stage one were then used to develop a self-completion survey for exploration of larger views at stage two. A total of 276 completed surveys were returned which represented a response rate of 14%. Findings: Findings indicate four dominant themes with sociocultural factors as the overarching influence on practice-policy gap, fear and prioritisation of safety needs. Factors such as gender, age, geographical location, service type and organisational sector led to significant differences in some views. For instance, sociocultural beliefs that construct sex and ID as a difficult subject are related to participants’ age band and organisational sectors. Older participants and those who work within voluntary/independent sector are likely to agree with beliefs that sex and ID is a socially difficult subject. Similarly, relationships between responses to questions indicate that concerns regarding safety needs have a significant impact on views. The theory that emerged from the study was that a reciprocal relationship between personal and wider attitudes implicitly construct individuals’ sexuality rights within a shared meaning and agreement on their developmental capacity. Social attitudes that construct adults with ID as vulnerable beings characterise the theory to practice discrepancies which is typified by SCWs’ actions that prioritise safety needs over other equally important needs. Conclusion: Improved policies and practice-based support that reduce staff fear regarding supporting personal and sexual relationships for people with ID are required. Contribution: This study offers a valuable contribution to social care research and provided vital insight into the gap in knowledge concerning SCWs’ experience of supporting sexuality rights amongst adults with ID linked to wider social attitudes in Wales.

Introduction: People with learning disabilities have a greater prevalence of musculoskeletal conditions and injuries than the general population and these have significant impacts on wellbeing. Despite this, orthopaedic and trauma hospital care has not been investigated with this group who seldom have their voices heard or their experiences valued and interpreted. This study contributes to the existing evidence base by exploring the experiences of people with a learning disability who have received orthopaedic and trauma hospital care. Aim: To understand the orthopaedic and trauma hospital experiences from the perspective of adults with a learning disability. Methods: A qualitative approach, focusing on peoples’ lived experiences, was utilised. A purposive sample of five participants was recruited and one-to-one, semi-structured interviews were undertaken. Analysis of the interviews employed an interpretative phenomenological analytical framework. Findings: Findings from each participant in the study was discussed in relation to their orthopaedic and trauma hospital care. A cross-case comparison was then undertaken and the themes below represent common experiences across participants: • Communication challenges • Lack of person-centred care • Issues related to pain management • Lack of confidence in hospital care • The valuable support and expertise of carers • Incompetence of hospital staff • Isolation and loneliness Discussion & conclusions: This study contributes to the evidence base by being the first to specifically focus on and provide experiential findings pertaining to the orthopaedic or trauma hospital experiences of adults with learning disabilities. There were significant shortcomings in the orthopaedic and trauma hospital experiences of adults with learning disabilities who perceived they were unsupported and received poor care in orthopaedic and trauma hospital settings. Recommendations and implications for practice: Person-centred care for adults with learning disabilities in orthopaedic and trauma hospital settings is needed along with specific education and training which includes close liaison with the experts by experience - people with learning disabilities and their carers as well as the specialists in learning disabilities.

"Take away volunteers ... sport dies" (deCruz, 2005; pg 83). These words highlight the important role of volunteers within the sports sector. Additionally, the role of sports and physical activity in lowering health risks of people with disabilities has been well evidenced (van Schijndel-speet et al, 2014). Despite this, a number of barriers remain in place for people with disabilities to take part in regular sport and exercise. In particular, volunteers have the ability to play a pivotal role in the provision of sporting opportunities for people with disabilities, thus impacting their overall health. Research within the area of sports volunteering has had a central focus on the motives of volunteers. However, there is a lack of research concerning the potential variations of motives, demographics and engagement of volunteers aligned to disability sports organisations. With over one million volunteers, Special Olympics is one of the largest organisations who provide sporting opportunities for people with intellectual disabilities, therefore making it an important case study within this field. Therefore, this study aims to gain a thorough understanding of the people who volunteer for Special Olympics and why, as an organisation, it is effective in ensuring high retention rates. Alongside this, this body of work will offer an insight into the volunteers' views on the practices and strategies of the Special Olympics organisation concerning volunteer management, recruitment and retention. As a multinational organisation, it is important to consider the potential impact of cultural expectations and variations on the overall policy development within such organisations. A mixed methodology protocol was adopted to permit the collection of both a range and depth of data from both volunteers and staff across three Special Olympics National Programs; Special Olympics Ireland, Special Olympics Great Britain and Special Olympics Hellas (Greece). A total of 403 volunteers responded to an online survey which focused on demographics, volunteer experience, motivation and volunteer awareness, as well as knowledge of organisational practices and policies. Findings show the creation of a culture and community within Special Olympics, as a whole, which plays a more significant role in determining volunteer demographics and motivation than the cultural variations evident across individual National Programs. However, a number of inconsistencies exist both within and across National Programs in the experiences of volunteers regarding some of the key processes of recruitment, communication and one’s ability to engage. Overall, a more co-ordinated response is required from National Programs in relation to the recruitment and retention of volunteers and this response needs to be tailored to the specific demographics of the volunteers within each National Program. Also, it is clear that Special Olympics provides a learning opportunity for other voluntary sporting and community organisations as its ability to transcend the sports and disability sectors and recruit volunteers from both is unique within this sector. Ethical approval for this research was obtained from the Ulster University ethical committee.

Intellectual disability (ID) is categorised by a significant reduction in cognitive function and adaptive abilities that begin in childhood. ID is part of a heterogeneous group of neurodevelopmental conditions associated with impairment in developmental domains and a cause of particularly adverse socioeconomic impact worldwide. There have been many recent advances in identifying causative genetic mutations in previously unexplained ID cases. With these advances comes an increasing demand for understanding mechanisms underpinning these pathogenic pathways. In this PhD thesis, I have studied rare monogenic novel neurodevelopmental disorders associated with ID. The objective of the thesis was to model a subset of mutations associated with novel neurodevelopmental disorders in mice to demonstrate a causal link between mutation and phenotype and to further understand the mechanisms by which these mutations result in human neurodevelopmental disorders. In order to achieve this, I adopted a multi-phase approach. Firstly, I designed a phenotyping platform, by combining behavioural and cognitive tests with morphometric brain analysis and genome-wide transcriptional analysis. I then used this approach to study KPTN-related syndrome, a novel developmental disorder that to date has not been characterised in mice, successfully recapitulating the main phenotypes described in the patients. Moreover, I gained further insight into the underlying pathogenic mechanisms associated with the disorder, opening the possibility of a therapy that could treat some aspects of cognitive and morphological impairments identified in the patients with KPTN-related syndrome. Lastly, I determined whether such an approach could be scaled-up to study multiple novel neurodevelopmental disorders, each with a mutation associated with a haploinsufficient novel neurodevelopmental disorder. I identified specific phenotypes for each of the four mouse lines under investigation, providing a platform for comparison between several developmental disorders. These refinements contributed to a larger five-year project starting at the Sanger Institute, aimed at characterising a wider diversity of human neurodevelopmental disorders.

Intellectual disability (ID) and autism spectrum disorders (ASDs) can have a devastating impact on an individual’s functioning and quality of life. Insights from pre-clinical models of monogenic forms of ID and ASD are now revealing the biochemical pathways and aberrations in cellular and synaptic functioning involved. One monogenic cause of ID, ASD and epilepsy is SYNGAP1 ID which results from mutations in the SYNGAP1 gene on human chromosome 6. Although a variety of symptoms have been reported, many affected individuals have moderate to severe intellectual impairment and severe seizure phenotypes. Previous pre-clinical studies have mainly focussed on the effects of altered SynGAP expression in mice. This thesis is therefore the first to explore altered SynGAP expression in a rat model. It also adds to the body of research exploring the roles of SynGAP isoforms in glutamatergic synaptic function. The SynGAP_GAP deletion rat was engineered to have a deletion encompassing the enzymatically active GTPase activating protein (GAP) domain of the protein, via which SynGAP regulates multiple biochemical pathways by enhancing the slow intrinsic hydrolysis of GTP by GTP-binding proteins. SyngapGAP/GAP rats appeared small and failed to thrive. As with Syngap-/- mice, this complete loss of WT SynGAP proved lethal, whereas Syngap+/GAP rats appeared to develop normally. The electrophysiological data obtained from this new model reveals a reduction in the frequency of miniature excitatory post-synaptic currents (mEPSCs) in Syngap+/GAP cultured neurons. However the exaggerated hippocampal long-term depression identified in Syngap+/- mice was not seen in the rats. There was also no evidence of differences in intrinsic cell properties, excitatory and inhibitory currents or ratios of AMPAR / GABAAR and AMPAR / NMDAR between WT and heterozygous rats. In addition to the characterisation of the SynGAP_GAP deletion rat, the impact of the previously unstudied Eα1 isoform on forebrain neuronal synaptic function was examined through mEPSC recordings. A trend towards lower mEPSC frequency was found which supports previous research showing that α1 isoforms reduce synaptic strength. This body of work therefore adds to published evidence of isoform specific functions and provides the first evidence of the impact of SynGAP alterations in rats, the results of which show some intriguing differences from previous work in mice.

Rationale: Research has repeatedly demonstrated that people have difficulty understanding their interrogation rights, as presented in an orally presented police caution. There has been a limited amount of research into possible means of improving understanding, with the application of linguistic, listenability, techniques to caution wording proving most effective amongst students. Methods: This thesis systematically reviewed research exploring verbal caution comprehension amongst adults involved in the criminal justice system, to isolate possible predictors of performance. It then assessed understanding of the Scottish police caution amongst people with an intellectual disability and if this can be improved using a modified (listenability) version. Results: IQ and verbal comprehension appear to have a positive association with understanding. However, the reviewed literature tends to use broad inclusion criteria that may increase confounding variables and reduce opportunity to isolate further possible predictors. People with intellectual disabilities performed poorly in assessment of their understanding of the Scottish police caution, even when the modified version was used. This was despite every participant claiming they had understood. Conclusions: The thesis questions whether the use of a verbal police caution fulfils the intention of communicating interrogation rights as required by law. It suggests more research into caution comprehension is required, with more specific inclusion criteria, to help better understand variables that predict understanding. The relationship between verbal ability and IQ suggest efforts to improve comprehension should be directed to people who have challenges in these abilities, such as people with intellectual disabilities. This should ensure any improvements can benefit a greater number of people. The thesis' empirical study suggests the method found effective amongst students does not extend to people with intellectual disabilities.

Eukaryotic Elongation Factor 1A (eEF1A) plays a key role in protein synthesis by delivering aminoacylated tRNAs to the A site of the ribosome. In higher vertebrates, two isoforms of eEF1A exist called eEF1A1 and eEF1A2, with eEF1A2 being expressed in adult brain, heart and skeletal muscle. Since 2012, several different de novo heterozygous missense mutations in EEF1A2 have been identified in humans and these cause epilepsy, intellectual disability and autism. Before considering treatment options, it is vital to determine whether these mutations cause loss or gain of protein function. I performed a battery of behavioural tests using two mouse lines with heterozygous loss of function mutations in eEF1A2. The aim was to determine whether there were any behavioural phenotypes consistent with intellectual disability and/or autism. Using heterozygous wasted mice (Eef1a2+/wst), I analysed the effects of aging on behaviour and found that Eef1a2+/wst mice showed reduced marble burying activity and reduced movement in the open field test with age. In a test of social behaviour, Eef1a2+/wst mice showed a significantly reduced preference for social novelty at all ages tested. The second heterozygous null line, Del22.ex3, was generated on a pure C57BL/6J genetic background. This new line was made in order to reduce the level of variation observed in data from the wasted line, which was on a mixed genetic background. The genetic background was shown to have an influence on behaviour as the results differed between this line and the wasted line. Del22.ex3 Eef1a2+/- mice showed significantly reduced engagement in repetitive behaviours compared with wild-type littermates and normal preference for social novelty. Using CRISPR/Cas9, a mouse line with the D252H missense mutation was generated and I repeated my behavioural testing on heterozygotes from this line. I found no behavioural abnormalities in this line suggesting a mouse-human difference in the ability to tolerate eEF1A2 missense mutations. Previous attempts to make a line with the G70S missense mutation were unsuccessful but as a product of this experiment, it was found that mice expressing G70S eEF1A2 had a comparable phenotype to and died at the same age as complete knockouts. This suggested that the G70S protein is non-functional and cannot compensate for loss of wild-type eEF1A2. These experiments have improved our understanding of the phenotypic effects of Eef1a2 mutations in mice and have shown, for the first time, that mutations in Eef1a2 affect mouse behaviour.

Background: Fifty percent of medications are not taken as prescribed. This is a major public health issue yet there is very limited evidence on the factors associated with medicines adherence in people with mild to moderate Intellectually Disabilities and diabetes (IDD). This study evaluated the frequency of, and factors associated with, medicines non-adherence in this group compared to people without ID but with diabetes (non-IDD).Methods: A systematic review of the literature informed the theoretical model tested. A two-stage, sequential mixed methods study with 111 people with type 1 and 2 diabetes, (IDD = 33, non-IDD = 78) was then carried out. Stage one (quantitative) compared frequency of medication adherence in the group overall, IDD and non-IDD. Univariate and multiple regression analysis evaluated associations between factors (ID, depression, side effects, self-efficacy and perceived level of social support) and medicines non-adherence. Stage two (qualitative) explored findings of stage one with 12 stage one participants' carers using semi-structured interviews. Results: Data were collected between July 2014 and May 2016. The frequency of medicines adherence was similar in the IDD and non-IDD population (70% vs 62%, p = 0.41). The theoretical model did not predict medicines non-adherence. After controlling for support with medicines and complexity of regime (number of medications and use of insulin), depression was an independent predictor in the non-IDD and group overall (p < 0.001). In the IDD group, perceived side effects was an important, but non-significant, predictor of non-adherence (p = 0.06). Carers' perceptions of adherence and depression were consistent with stage one findings. Conclusions: Optimising adherence to diabetes medicines is equally challenging in IDD and non-IDD populations. Associations between independent factors and adherence differed between the two groups: in the non-IDD population, depressive symptoms were associated with non-adherence whereas in the IDD population perceived level of side effects appeared most dominant. Due to small sample sizes findings were inconclusive therefore, a sufficiently powered study further investigating the relationship between adherence and side effects in people with ID and diabetes is recommended.