Abstract
BackgroundSmith–Magenis syndrome (SMS) is a rare genetic syndrome associated with a unique profile of early morning waking and daytime sleepiness. Children with SMS evidence high rates of self-injury and aggression and have a preference for adult over peer attention, with strong motivation to interact with a particular caregiver. In addition, people with SMS have lower adaptive functioning skills relative to cognitive abilities and demonstrate high levels of impulsivity. Taken together, these factors may result in individuals being awake overnight requiring vigilant caregiver supervision. Despite these complexities, no study has described the strategies caregivers take to keep their children with SMS safe overnight or considered the impact of these experiences on caregivers or the wider family.MethodsThe current study used a mixed-methods approach to consider sleep management strategies and challenges for caregivers of people with SMS at different ages. Caregivers completed an international online survey about sleep management and related difficulties, use of interventions and access to services and support. Semi-structured interviews were conducted with 14 caregivers in the UK to increase understanding of caregiver experiences and priorities for change in the UK context. Interviews were transcribed verbatim and coded using thematic analysis.ResultsEvidence from the online survey (n = 40) revealed wide-ranging impacts of poor sleep on the person with SMS and the wider family. Only 5% of caregivers reported that the sleep problems had no impact on their child, and 76% reported a moderately or extremely significant impact on themselves. For some individual caregivers, sleep management difficulties improved over time whereas for others no change was reported. Weekly respite emerged as the ideal provision for 49% of caregivers, although only 14% had access to this. The majority of caregivers (54%) received no respite. Thematic analysis of qualitative interviews revealed interactions between aspects of the behavioural phenotype of SMS which may contribute to complex and unusual presentations in relation to sleep management and safety.ConclusionsCaregivers’ priorities for sleep management and support were delineated, with key implications for services in terms of the use of SMS-sensitive strategies and respite provision.
Highlights
Smith–Magenis syndrome (SMS) is a rare genetic syndrome which occurs in approximately 1 in 25,000 live births [1]
When asked to provide examples of the impact on their child in the survey, parents reported a range of incidents relating to safety of their child overnight including one child who had “climbed out of a first floor bedroom window” and one who “nearly died of hypothermia... because she left the room in a hotel...by the time we found her she was unresponsive with a temperature in the 80s Fahrenheit”
The mixedmethods approach using an online survey developed in collaboration with relevant parents and professionals, and a semi-structured interview to gain a broader understanding of caregiver experiences, strengthens the validity of the findings and allows exploration of the complexity of the behavioural phenotype in Smith–Magenis Syndrome (SMS) in relation to sleep management
Summary
Smith–Magenis syndrome (SMS) is a rare genetic syndrome which occurs in approximately 1 in 25,000 live births [1]. Perhaps the most striking feature of SMS is the profile of excessive daytime sleepiness and early morning waking [12,13,14,15] which is associated with the suggestion of an ‘inverted’ circadian rhythm in this group [16, 17] This pattern is thought to be a result of dysregulation of the retinoic acid induced 1 gene [18]. People with SMS have lower adaptive functioning skills relative to cognitive abilities and demonstrate high levels of impulsivity Taken together, these factors may result in individuals being awake overnight requiring vigilant caregiver supervision. No study has described the strategies caregivers take to keep their children with SMS safe overnight or considered the impact of these experiences on caregivers or the wider family
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