The distinct profiles of sociability and the development of social cognitive abilities was investigated in Cornelia de Lange (CdLS), Fragile X (FXS) and Rubinstein-Taybi (RTS) syndromes. An observational study demonstrated differences in the quality of broad social interaction skills and behaviours during a semi-structured social interaction with an examiner between individuals with CdLS, FXS and RTS. Individuals with FXS and RTS showed lower quality of eye contact, and individuals with FXS showed less person-focused attention, than those with CdLS. Associations between specific behaviours with age and autism spectrum disorder (ASD) symptomatology differed across groups. A second study assessing participant's performance on two scaled batteries of tasks assessing early (intentionality abilities) and later developing (ToM abilities) social cognitive abilities indicated that these groups do not develop these abilities in the same order as typically developing children. Different strengths and weaknesses observed between groups highlighted factors that may lead to disrupted social cognitive development in these groups. A third study showed that intentionality abilities predicted social enjoyment and social motivation, whereas ToM abilities predicted social enjoyment and ASD symptomatology in all groups. These fmdings were synthesised with previous literature to develop a preliminary model of sociability in CdLS, FXS and RTS.

Arthrogryposis, Renal dysfunction, and Cholestasis (ARC) syndrome is a multisystem disorder associated with abnormal localisation of some polarised membrane transporter proteins. Distinct apical and basolateral poles are essential for epithelial function and organ development but the molecular pathways determining the biogenesis of polarised membranes are not fully characterised. Mutations in VPS33B, a Sec1-Munc18 protein, account for 75% of ARC patients. Reduced expression of VPS33B at both the RNA and protein level was demonstrated in all ARC syndrome patients, even if mutations were not identified in VPS33B. A novel protein POLARIN (PLRN) was identified that interacts with VPS33B, and is crucial for VPS33B function. Pathogenic mutations in PLRN occur in ARC patients without VPS33B mutations. Decreased Polarin and Vps33b expression in mouse renal collecting duct cells led to abnormal localisation of specific apical membrane proteins and to disordered apical junction complex formation. In an in vivo model, knockdown of polarin in zebrafish resulted in defects in biliary tract development. These findings establish that a VPS33B-POLARINRab11a intracellular trafficking pathway is functionally distinct from another VPS33-related pathway (VPS33A/VPS16) and is required for (a) normal epithelial polarisation and apical junction complex formation, and (b) normal liver and kidney development and function.

INTRODUCTION Brain tumours are the most common solid tumour in childhood, while Magnetic Resonance Spectroscopy (MRS) studies have been performed on brain tumours previously, the majority have been performed on the adult patient population and at long echo times. The work presented in this thesis outlines work performed in the usage of short echo time MRS in the characterisation of childhood brain tumours. METHODS Short echo time MRS was performed on children with brain tumours at the time of diagnostic imaging. In addition, follow up data was accrued for some patients. Resulting spectra were assessed for characteristics either of diagnosis, prognosis or treatment response. RESULTS Spectra collected were used in assessing characteristics of an array of childhood brain tumours. Initially the technique was tested on a well understood dataset of cerebellar tumours, and was later expanded to provide diagnostic aids for both brain stem tumours and pineal region tumours. A group of pilocytic astrocytomas were assessed for differences by location within the brain, for prognosis and for response to treatment. CONCLUSIONS The additional information given by short echo time MRS was useful in the characterisation of childhood brain tumours

The evidence base for the benefits of mindfulness for children is growing and the beneficial outcomes of Mindfulness-Based Interventions (MBIs) are found in a broad range of domains. The aim of this research study was to explore and evaluate the outcomes and process of an MBI delivered in a school setting to students aged 12 and 13-years-old by a Trainee Educational Psychologist. A mixed methods approach was employed within a paradigm of pragmatism which was well suited to the complexity of phenomenon to be studied. In order to answer the research questions an intervention design was utilised in which outcomes for two groups of students were compared. Multiple of sources of data were analysed; qualitative data derived from semi-structured interviews was thematically analysed and interpreted alongside findings from a quantitative analysis of data obtained from the Child and Adolescent Mindfulness Measure and the Strength and Difficulties Questionnaire. Evidence was found for an increase in mindfulness; most students reported experiencing improved self-awareness, awareness of their environment and feelings of calm and relaxation associated with mindfulness practice. A significant difference was found between pre- and post-intervention parental total difficulties scores on the SDQ, suggesting that student’s difficulties had improved from the parent’s perspectives.

This thesis comprises a literature review and a research paper. The literature review explores the current evidence for the barriers and facilitators for a successful transition to adult services for young people with gastrointestinal disorders. Seventeen studies were identified. The findings suggest that the transition should be a flexible, gradual process that involves joint care between paediatric and adult services. The competencies of young people need to be assessed and developed to prepare them for adult care, with interventions also addressing parental involvement. The research study used a qualitative approach to explore the transition experiences of young people with coeliac disease (CD), from the perspective of both young people and their parents. Seven young people and six parents were interviewed. The data was analysed using Interpretative Phenomenological Analysis (IPA). Three super-ordinate themes were identified for each subgroup, which overlapped extensively: ‘Absence of discussion and abandonment’, ‘Understanding my coeliac disease and me’ and ‘Responsibility is an evolving process’. A lack of discussion and involvement in the transition was associated with feelings of abandonment and apprehension. Many participants felt their CD-knowledge and psychosocial needs were not sufficiently addressed. Assuming responsibility for the utilisation of services varied across participants, and parental involvement did not necessarily end with transfer to adult services.

This thesis presents a Realist Evaluation of the Brook Traffic Light Tool (TLT) which supports professionals in reducing harmful sexual behaviours (HSB) in children and young people (CYP). This is important as the numbers of HSB in CYP are rising, and no national strategy exists in the UK. The conceptual element consisted of developing a hybrid methodological approach combining: Realist Evaluation; The Kirkpatrick Model; evidence based policy, policy transfer and policy success perspectives. The empirical element involved evaluating the implementation of the TLT across Cornwall, with data collected in a three phase mixed method approach: a questionnaire with 436 responses; 60 detailed questionnaires and 13 interviews. The context, mechanisms and outcomes that emerged were complex. Conceptually, questions were raised about empirical research that underpins the TLT, with UK transfer and policy success criteria presenting a mixed picture of success. In Cornwall the TLT met the majority of its outcomes. Direct impact upon the behaviour of CYP was difficult to ascertain and categorisation anomalies were found when behaviours were not explicitly outlined in the TLT. The study found that a range of professionals were encountering both harmful and healthy sexual behaviours, yet comparison to national figures proved problematic as no baseline exists.

Adolescents with T1D are more vulnerable to developing depressive symptoms than their peers and the presence of depressive symptoms can have a negative influence on the self-management of T1D. It is therefore important to gain an understanding of the processes that underlie depressive symptoms in adolescents with T1D and also to examine the relationship between depressive symptoms and metabolic control. A systematic literature review is presented that synthesized and evaluated evidence on the longitudinal relationship between depressive symptoms and metabolic control in adolescents with Type 1 diabetes. The main focus was on issues of directionality within this relationship over time and identifying factors that may influence identified longitudinal associations. An empirical paper that investigated the role of cognitions proposed by Beck’s cognitive theory of depression (1967) and Bandura’s social cognitive theory (1997) in depressive symptoms in adolescents with T1D is also presented. Further research exploring depressive symptoms in adolescents with T1D is required.

This thesis explored the processes underlying interprofessional working relationships between midwives and health visitors in UK maternity services; using a multi method approach consisting of a systematic review, interviews, and focus groups. The systematic review synthesised the literature on midwife-health visitor collaboration, identifying barriers and enablers that are influential to successful interprofessional collaboration. Thus, the subsequent empirical studies attempted to explore these barriers and enablers in greater depth, from the perspectives of midwives and health visitors. Two studies utilised the Theoretical Domains Framework to explore the barriers and enablers to midwife-health visitor collaboration (Chapters 3 6). These are the first studies to examine midwives’ and health visitors’ perceived barriers and enablers to interprofessional collaboration using a psychologically grounded theoretical framework. Midwives and health visitors identified barriers and enablers to interprofessional collaboration across each of the 12 theoretical domains, such as ‘Knowledge’ (e.g. awareness of processes involved in contacting midwives) and ‘Memory, attention, and decision processes’ (e.g. contacting health visitors when there is a concern). Chapter 6 compared midwives’ and health visitors’ perceived barriers and enablers to interprofessional collaboration, and discussed its research and practice implications, including approaches to intervention development for improving interprofessional collaboration. For example, various behaviour change techniques can be integrated as part of interventions aiming to enhance interprofessional collaboration. The final empirical study attempted to address the gap in the interprofessional literature by involving service users’ views. Focus groups with recent mothers were conducted to gain explore their perspectives of interprofessional collaboration in maternity services. Findings suggest that women observe fragmentation between midwifery and health visiting. Participants recommended service changes including group based antenatal classes jointly provided by midwives and health visitors. In summary, the findings indicate that midwife-health visitor interprofessional collaboration is important to professionals and women, but will require health professional behaviour change along with service changes.

Although the survival rates for children with cancer have improved significantly due to biomedicine advancements, the illness nonetheless is devastating and presents significant challenges for parents. Given that parents have an important role in their child’s well-being, it is necessary that we develop an understanding of their experiences to better support them. For this purpose, the aim of the current study was to explicate the parents’ lived experiences of their child being diagnosed with cancer. Semi-structured interviews were conducted with eight parents attending a UK oncology unit within the National Health Service. The empirical data was analysed using Interpretative Phenomenological Analysis. Four superordinate themes emerged from the data: “Sense-making”, “Powerless”, “Relationship with Others”, and “A Process of Transformation”. The findings revealed how parents strove to find purpose and made sense of their shock of the diagnosis. It also appeared that parents felt a loss of control over their child’s condition that impacted their lifestyle. Despite their struggles, participants reported on their need to appear strong and resilient to facilitate their child’s coping. Parents conveyed the ways in which their relationships with others, both with the healthcare professional and their social network, affected their experiences of having a child with cancer. The findings indicate how parents seek to re-evaluate their values in life, reconsider future relationships and observe the significant changes to their child during their treatment. The findings are considered in relation to existing literature and discuss implication for clinical practice, as well as the limitations and recommendations for future research.

Background: Caring for a child with a chronic health condition is often associated with high levels of anxiety, depression and stress (Burton et al., 2003). Demanding caring duties, a lack of time and social isolation create barriers for carers accessing mental health support. The internet may be useful way for carers to access psychological supports but to date no research has explored this. Aims: To identify common difficulties which carers face and adapt a pre-existing computerised CBT (cCBT) based course to reduce carer stress. To determine the feasibility of providing mental health support to carers through an online course and assess its potential effectiveness and accessibility. Methods: Focus groups and questionnaires completed by hospice staff provided information regarding common stressors encountered by carers. Thematic analysis (Braun and Clarke, 2006) was used to identify topics which were then used to adapt a pre-existing cCBT course which consisted of 6 primary modules and additional online materials/modules plus the offer of weekly email support for 6 weeks from a support worker to encourage use. A single arm feasibility trial of the tailored cCBT was conducted using carers of children with chronic conditions recruited through advertisements and local hospice staff. Participants were provided with access to the cCBT course for 6 weeks and received weekly personalised support emails. Self-report measures of anxiety, depression and daily functioning were measures at baseline and at post-treatment. Questionnaires administered online explored participant satisfaction and course use which were then analysed. Results: 19 hospice workers were recruited to complete questionnaires regarding common difficulties faced by carers. Several themes emerged from thematic analysis of the data including: physical and interpersonal difficulties, external pressures, time constraints, limited support, responding to the child’s illness and difficulties accessing appropriate care for their child. 29 carers were recruited to trial the online course, with 55.6% recruited through social media. 12 (30.8%) carers logged onto the course and 6 (15.4%) completed follow-up measures at 8 weeks post intervention. Of the participants that started the course only 2 (18.2%) completed all 6 course modules. Exploratory analyses showed no statistically significant differences in depression, anxiety or functional impairment. However, results indicated a general reduction in clinically significant anxiety symptoms and functional impairment. Satisfaction questionnaires completed by carers post-intervention indicated a high level of satisfaction with the course. Qualitative results showed that participants valued the email support they received and the flexibility that an online approach provided. Some carers still struggled to find time to complete the course and suggestions were made to amend the course to enable it to be accessed offline and on portable devices. Conclusion: Computerised courses may be an acceptable way of offering mental health support to some carers. Difficulties in retention and recruiting suggest that further adaptations to the course are needed to improve engagement (i.e. delivering the course via apps, or moving to stand alone course topics rather than a recommended course). Alternative methods of delivering psychological support should be explored to avoid excluding those who do not have internet access.