A recording of the webinar is now available if you’d like to catch up in full.
Introduction
Professor Caroline Richards opened the webinar by introducing herself and the Cerebra Network for Neurodevelopmental Disorders. The Cerebra Network is a group of Psychologists and researchers that focus on doing research to improve the lives of children who have severe and complex needs and their families. Professor Richards explained that children with complex needs often have a dual diagnosis. These children may also have an intellectual disability, a rare genetic syndrome, or a rare genetic syndrome and an autism diagnosis. Despite having some of the most profound needs, research for these groups of children is often neglected.
Professor Richards explained that the Cerebra Network works in partnership with many rare genetic syndrome foundations, including the Smith Magenis Syndrome Foundation. They also work with families to determine the types of research the team should be doing and gain advice from families about the best way to do that research. The Network does a lot of sleep research, because families say that good quality sleep for their child, and for them, as a whole family is a key determinant of quality of life. Cerebra have funded much of the sleep research conducted by Professor Richards and her team. You can read about the projects that Cerebra has funded at the Cerebra Network for Neurodevelopmental Disorders here.
The sleep stages
Professor Richards showed us a visual image of a hypnogram, indicating the different stages of sleep and explained that the different sleep stages are characterised by different types of neuronal activity in the brain. So, for example, in deeper stages of sleep (stages 2, 3, 4) we see characteristic patterns of slow wave activity across the brain, and synchrony in activity across the brain, whereas in periods of rapid eye movement sleep (REM sleep), we see a lot more eye activity and states of dreaming. A typical adult, across the course of a night goes through the stages of sleep several times and has periods of brief awakening. This is part of normal and typical sleep. It is often those brief periods of waking that can lead to challenges and problems in sleep. Children or adults can sometimes struggle to resettle themselves and restart their next sleep cycle.
Understanding the sleep process
Professor Richards explained that there are several different biological elements that determine when we fall asleep and how we sleep, including:
Process S – the internal or homeostatic sort of drive to go to sleep. The longer you are awake, the greater you experience a pressure to sleep, and the more likely it is that you will fall asleep.
Process C – is governed by the suprachiasmatic nucleus, which is a part of the brain that determines when the hormone Melatonin is released. Melatonin works on a Circadian (24 h rhythm) in our bodies and helps us to feel sleepy. In most typically developing children and adults over the course of 24hrs, there are periods in which our melatonin secretion and synthesis is higher and that makes us feel sleepy, then periods when it’s lower. Typically, we get is a rise in our melatonin synthesis, and that coincides with a late evening rise in process S.
The 2 processes come together, and they help us to fall asleep and maintain sleep until melatonin drops away overnight, and that pressure to sleep drops away.
Why is sleep important?
Professor Richards explained that sleep is fundamentally important to every single aspect of what we do during the day. So, if we want to learn well, if we want to have well-regulated hunger and satiety, if we want ourselves to develop well, if we want to heal well after an injury, all of that is contingent upon the quality and the quantity of sleep that we experience.
What does research tell us about sleep for children with genetic syndromes?
Professor Richards provided an overview of research undertaken to understand sleep and sleep related difficulties for children with rare genetic syndromes and complex needs. The key points are summarised below:
- Sleep problems are more common in children with rare genetic syndromes, and the type of sleep problem can be associated with specific syndromes. This meta-analysis of research explains sleep differences in different genetic syndromes in more detail. The Cerebra Network has conducted research to help us understand sleep quality in specific syndromes such as Angelman syndrome and Smith Magenis syndrome (SMS).
- Actigraphy (wrist-worn devices) have been used successfully to characterise sleep in children with complex needs, providing more objective data than parental reports, for example, in this actigraphy study conducted by the Cerebra Network, associations between age, nocturnal activity and daytime behaviour in children with SMS were explored.
- Research has found that physical health problems, particularly pain, can significantly impact sleep in these children. The FLACC pain scale is recommended for assessing pain in children who may struggle to communicate.
- Research has shown that parental behaviour was often not the primary cause of sleep problems for these children.
- Etiology (cause) matters in understanding and treating sleep problems in children with rare genetic syndromes. Professionals should consider syndrome-specific profiles when assessing and intervening. The Further Inform Neurogenetic Disorders website can help you find syndrome specific information that could be important for understanding and supporting sleep for different genetic syndromes.
- Internal causes like pain and anxiety should be primary targets for intervention, rather than immediately focusing on external patterns of learned behaviour. See the Cerebra Sleep, Pain and Anxiety guides.
Sleep issues in Smith-Magenis Syndrome: A parent’s perspective
We were delighted to be joined by Leeann Stevenson, a parent of a child with Smith Magenis Syndrome (SMS). Leeann’s talk provided an insightful firsthand account of what it can be like when a child has a severe sleep difficulty, that is inherent to the experience of families of children with Smith Magenis Syndrome.
Leeann explained that SMS is a rare genetic condition characterized by intellectual disability, developmental delays, behavioural challenges, and distinctive sleep disturbances. The two main features that set SMS apart are:
- Explosive, impulsive, and unpredictable behaviors
- Disrupted sleep patterns that are unique to SMS.
Sleep Disturbances in SMS
Leeann explained that individuals with SMS do not have a problem with sleep itself – they can sleep anytime and anywhere. The issue lies with their inverted circadian rhythm. Their melatonin levels drop during the night instead of rising and they have difficulty staying awake rather than problems falling asleep. This leads to excessive daytime sleepiness and frequent nighttime awakenings. Leeann explained that the sleep disturbances in SMS can significantly affect family life, particularly the need for constant supervision and the exhaustion and desperation for help among caregivers.
Strategies for Managing Sleep Issues
Leeann explained the types of things they tried as a family to help manage the sleep issues they experienced. These included:
- Sleep Hygiene Routine
No screens before bed, calm bedtime story, warm bath and milk, consistent bedtime, remove stimulating toys from bedroom, ensure adequate daytime light exposure.
- Environmental Adaptations
Specialized enclosed bed, blackout blinds or shutters, door alarms for safety, baby monitor, grow clock to indicate sleep/wake times.
- Safety Measures
Child locks on wardrobes and drawers, secure valuable items and potentially dangerous objects, nightly “lockdown” routine.
- Medical Interventions
Regular health and medication reviews, melatonin and beta-blocker combination, anxiety management.
- Daytime Management
Scheduled daily naps, adequate light exposure, aromatherapy, white noise or fan for settling.
Leeann concluded her talk by raising awareness of what it takes to manage sleep issues for children with SMS, explaining that successful management requires a multi-faceted, consistent approach. She highlighted that while challenges persist, implementing a combination of environmental, behavioural, and medical strategies can lead to improvements in sleep patterns and overall quality of life for individuals with SMS and their families.
Delegate feedback
‘It was refreshing to hear some evidence that supports our experiences working with young people and reassuring to know that an evidence base is building up to inform support pathways and options in the future’.
‘The messages from the parent talks about allowing an alternative sleep pattern to exist in a young person and how to support this practically was also a refreshing approach and a helpful perspective based on real life experience’.
‘The acceptance and ‘working with’ approach is exactly what we need to explore’.
Useful resources
ResearchGate: A portal in which you can access research journal articles, side stepping paywalls.
The Further Inform Neurogenetic Disorders (FIND) website for parents and professionals containing evidence-based information about a selection of genetic syndromes. This includes information about sleep, behaviour, mental health and communication.
Cerebra Sleep Advice Service offers a range of services to support sleep for children with brain conditions and their families. Alongside a sleep tips booklet and relevant guides, the sleep service also offers one-to-one support.
Caroline Richards is a Professor of Neurodevelopmental Conditions at the School of Psychology at the University of Birmingham. She is also Co-Director for the Cerebra Network for Neurodevelopmental Disorders.
Leeann Stevenson is a mum to a young person with Smith Magenis Syndrome. Leeann is also Communications Manager at the Smith Magenis Syndrome Foundation.
Jane Margetson is a Lead Research and Education Officer at the Charity Cerebra.
