Title: Understanding caregiver experiences of sleep management difficulties in individuals with tuberous sclerosis complex: A qualitative approach
Funder: Tuberous Sclerosis Association

Abstract: Tuberous sclerosis complex (TSC) is a rare genetic disorder associated with high rates of epilepsy, and a number of neuropsychiatric conditions, including: autism, intellectual disability, sleep difficulties, self-injury, and anxiety, collectively referred to as TSC-associated neuropsychiatric disorders (TAND). Eating and sleeping behaviour are theoretically identified as a biological cluster in relation to TAND identification. Difficulties relating to settling to sleep, night waking, daytime sleepiness, and reduced overall sleep time and efficiency are described in the literature. Sleep difficulties have been identified as the second most common behavioural presentation of TAND, with a 44% overall prevalence based on findings from the TuberOus SClerosis registry to increase disease Awareness (TOSCA). However, across all TAND clusters, the eat/sleep cluster is the most under-researched in cohort studies (35/153; 23%) according to a recent TAND scoping review. Therefore, the aim of the e-Slept project is to document caregiver experiences of managing sleep difficulties in the child or adult they care for with TSC. Caregivers who identify sleep to be of significant concern via the self-report, quantified TAND Checklist (TAND-SQ; ‘Over the last month, have you/has [subject] had difficulty with sleep difficulties’) will complete a semi-structured qualitative interview via an online telecommunications platform (n = 20). These semi-structured interviews will explore current treatment, professional support, and access to services, to inform TSC-specific sleep recommendations and guidelines. Caregivers will be invited to draw on examples of best practice, as well as experiences of barriers or challenges accessing sleep services and support (if applicable). Caregivers will be recruited nationally and internationally to determine international variance in legislative care provision for sleep management in TSC. Crucially, caregivers providing overnight support to both children and adults will be sought to capture the age-related presentation of sleep difficulties in TSC across the lifespan.

Lay abstract: Tuberous sclerosis complex (TSC) is a rare genetic disorder resulting in benign tumour growth within multiple organ systems. Around 90% of individuals are affected by behavioural (e.g. self-injury), psychiatric (e.g. autism), intellectual (e.g. intellectual disability), academic (e.g. reading and writing difficulties), neuropsychological (e.g. inattention) and/or psychosocial difficulties (e.g. low self-esteem), which are termed TSC-associated neuropsychiatric disorders (TAND). Sleep difficulties are outlined within TAND as an area of clinical concern (e.g. night waking, daytime sleepiness), but lived experiences of sleep management concerns and access to support (e.g. caregiver response to nocturnal seizures, sedative side effects of anti-epileptic medication) have not been investigated. With a view towards targeted assessment and treatment from the perspective of families and caregivers, the e-Slept project aims to document caregiver experiences of managing sleep difficulties in the individual they care for with TSC. Caregivers and stakeholders will be consulted on interview content and piloting of suitable questions. Interviews will aim to outline which strategies are currently utilised effectively and which behavioural and medical interventions have been trialled. Interviews will also provide first-hand accounts of potential barriers to effective sleep management faced by caregivers accessing support within local care authorities. Via online interviews with 20 caregivers of children and adults with TSC (both within the UK, and internationally), potential environmental and behavioural factors related to sleep difficulties in TSC will be explored. In-depth accounts of sleep management concerns and current interventions utilised by families (if any), will highlight clinical concerns relating to poor sleep in TSC, with a view towards informing social care provision and support (within the next five years). Twelve months post-funding, main findings will be published in an academic journal, research summaries will be provided to stakeholder organisations, and an e-Slept online webinar will be scheduled to disseminate findings with families and professionals.

Research activity codes: 7.3 MANAGEMENT AND DECISION MAKING
Health categories: SKIN