Dr Caitlin Murray

Sleep difficulties are common in children with rare genetic syndromes and are associated with clinical features such as behaviours that challenge and mental health difficulties. This study aimed to further clarify the role of sleep difficulties in children's clinical outcomes by (1) describing profiles of sleep difficulties in syndromes that had received little or no detailed sleep investigation, such as KBG and Kleefstra syndrome; (2) statistically controlling the interactions between clinical features when examining the associations with sleep difficulties; and (3) exploring the associations between sleep difficulties and demographic characteristics. Overall, this study aimed to describe the profiles of sleep difficulties experienced within genetic syndromes and examine the associations between sleep difficulties, clinical features, and demographic characteristics. Caregivers of children with rare genetic syndromes (N = 251, aged 1-18 years) completed questionnaires that assessed sleep difficulties and various clinical features. Profiles of sleep difficulties were described by syndrome and compared via odds ratios to typically-developing children. Structural equation modelling was used to examine the associations between sleep difficulties, clinical features, and demographic characteristics, whilst controlling for interactions between clinical features. Across most syndromes, night wakings, bedtime resistance, sleep-disordered breathing, parasomnias, and sleep duration difficulties were elevated compared to typically-developing children, although several syndrome-specific profiles of sleep difficulties were also observed. Across syndromes, sleep difficulties were significantly, positively associated with anxiety and depressed mood, autism-related characteristics, overactivity and impulsivity, epilepsy severity, and the severity of physical health conditions. Of the demographic characteristics, sleep difficulties were associated with socioeconomic status. These findings have several implications. Firstly, the profiles of sleep difficulties described in syndromes with little prior sleep investigation (e.g. Coffin-Siris, KBG, and Kleefstra syndrome) highlights the need to investigate sleep in more detail in these groups and further informs the phenotypes of the syndromes. Secondly, sleep difficulties were associated with numerous clinical features, even after controlling for other predictors, highlighting the importance of sleep as a clinically modifiable variable that could improve clinical outcomes in rare syndromes. Thirdly, the association between sleep difficulties and socioeconomic status highlights the need to examine environmental determinants of poor sleep in children with rare genetic syndromes.

Bullying is a public health risk with rates amongst pupils in mainstream school estimated to be about 20-30%. This increases to approximately 25-69% amongst pupils with special educational needs and disabilities (SEND). Combined bullying data from two large studies of children and young people from 144 countries found that the greatest risk factor to becoming a victim of bullying was being 'different' to one's peers. These differences included factors such as physical appearance, physical disability or learning disability. Yet there are currently no evidence-based anti-bullying programmes designed specifically for pupils in special schools, and therefore no randomised controlled trials. This study adapted KiVa - an established and evidence-based Finnish anti-bullying programme of ten, 1.5 h lessons that can be embedded into a school curriculum - into KiVa-SEND, by adjusting the language, activities and teaching delivery. A two-arm feasibility cluster interventional randomised controlled trial with a 1:1 blocked randomisation allocation ratio of schools and an embedded process evaluation. Data will be collected at baseline and at a 12-month follow-up. Eight UK special education schools will participate with between 128 and 384 pupils and between 16 and 96 teachers completing the data questionnaires. A further three to six teachers and up to 10 pupils will participate in the process evaluation interviews or Talking Mats. Talking Mats is a visual tool to support individuals who struggle with communication, to express their thoughts and emotions. Four schools will be allocated to implement KiVa-SEND across the academic year 2025/26 in addition to anti-bullying practice as usual, and four schools will continue with usual practice alone. Primary outcomes will be feasibility outcomes on the topics of recruitment and retention, adherence, staff surveys, pupil surveys and pupil attendance. Secondary outcomes will focus on pupil survey data, teacher survey data, and the differences between KiVa-SEND and the schools' current anti-bullying programmes. The process evaluation will focus on the topics of recruitment and retention, implementation and adherence of the adapted KiVa programme, engagement and acceptability of/to pupils and staff, and suitability of the outcome measures. This feasibility cluster randomised controlled trial with embedded process evaluation will evaluate the feasibility of delivering KiVa-SEND within a variety of UK special schools, the acceptance of the materials, and the suitability of the outcome measures, for pupils aged 7-14 with a range of primary educational needs and learning disabilities. This will inform the feasibility to later conduct a definitive randomised controlled trial of the effectiveness of KiVa-SEND. ISRCTN, ISRCTN15516577. Registered 31 March 2025 before any data collection, https://www.isrctn.com/ISRCTN15516577.

ABSTRACT Background Family carers of people with intellectual and developmental disabilities are at increased risk of stress and often face barriers to accessing appropriate supports. Peer support can enhance the effects of well‐being interventions, yet research is limited regarding family carers' experiences within peer support roles. Method Semi‐structured interviews were conducted with 10 peer mentors (four adult siblings, six parent carers) paid to support other family carers undertaking an online mindfulness intervention. Interviews were recorded and transcribed. The data were analysed using Framework Analysis. Results Peer mentors discussed their motivations, the importance of shared experiences within the mentoring relationships, increased confidence and self‐belief, and learning and growing throughout the mentoring role. Conclusion Peer mentors spoke positively, discussing benefits within their personal lives and future employment opportunities. Further research is needed regarding the experiences of mentors who withdrew from the role, as well as fathers, brothers and people from ethnic minority communities.

Difficulties in communication and social functioning are key diagnostic components of intellectual disability (ID), and negatively impact the wellbeing of those with ID. Communication and social difficulties are multifaceted and comprise a wide breadth of skills. Current approaches in research and intervention often do not include refined assessment of communicative and social functioning in those with ID. Yet, in-depth behavioral phenotyping in neurogenetic syndromes associated with ID indicates that aspects of communication and social functioning are dissociable and interact with one another culminating in a diverse range of unique behavioral profiles between and within these groups. Detailed assessment of such profiles contributes to refined understanding of the developmental mechanisms underlying distinct aspects of communication and social functioning, and thus the advancement of targeted and evidence-based intervention. We discuss insights gained from refined assessment in five neurogenetic syndromes with distinct profiles of social and communication skills: Angelman syndrome, Cornelia de Lange syndrome, Down syndrome, fragile X syndrome and tuberous sclerosis complex. Specifically, we compare findings and the improved knowledge derived from detailed assessments relative to broader measures that mask nuanced strengths and difficulties. We then consider how refined but practical assessment approaches may be applied in research and intervention in broader groups of people with ID with heterogeneous causes.