Our children do not have a problem with sleep – they can sleep anytime, anywhere.
It is the parents and carers around them that have a problem with their sleep!
A family’s life can easily turn into a nightmare when one member has a severely disrupted sleep pattern.
As parents and caregivers, we want to help our children or adults who have Smith-Magenis syndrome to lead healthy lives. But how do you keep them safe and navigate the challenges of living with disrupted sleep?
Sleep problems are highly characteristic of people with SMS, more so than of other people with an intellectual disability (where sleep problems are also elevated).
There is now quite a lot of research into sleep difficulties in SMS and it is clear that sleep is a significant problem for nearly all people with the syndrome (75-100% depending of what measures of sleep are used), and that this sleep problem is likely to have a biological cause in most people. Despite our increasing knowledge, currently there remain many aspects of sleep in SMS which are not well understood.
What are the typical sleep patterns of a person with Smith-Magnenis syndrome?
Many people with Smith-Magenis syndrome will sleep for much shorter periods, often about one to two hours at a time. They also have trouble maintaining their sleep and wake up very frequently during the night.
In addition to problems sleeping at night, daytime sleepiness is common – SMS naps have been described as ‘sleep attacks’, alluding to the sudden and irresistible nature of the urge for sleep. Daytime sleepiness may account for some disruptive behaviours shown by those with SMS. This suggestion is supported by a relationship between tantrums and increased melatonin (the hormone thought to be responsible for daytime sleepiness).
Infants are described by their caregivers as good sleepers, often having to be woken for feeds, yet even at this young age there is reduced overall sleep.
Significant sleep problems emerge in childhood which can impact on the child with SMS and those around them. Problems falling asleep are reported in some, but this is less problematic than frequent night-time waking (average of around half an hour) and early waking (e.g. before 5am), resulting in shortened sleep cycles. Out of sync waking can be particularly problematic in SMS as night-time behaviour can be very disturbing to other family members and can sometimes be dangerous for the child. Daytime sleepiness is noted.
Activity appears to be elevated early in the night, suggesting difficultly initiating sleep at this age. As people get older, there appears to be reduced night-time sleep and increased but shorter naps. Despite this apparent reduction in sleep quality with age, caregivers report decreases in sleep problems with age; this is likely to be due to reduced disruptive night-time behaviours with age rather than improved sleep.
Why do people with Smith-Magenis syndrome have difficulty sleeping?
People diagnosed with SMS are either missing or have a mutated gene, known as the RAI1 gene, which is located on chromosome 17. This gene produces a protein that is needed for the body to make melatonin. Melatonin is a hormone secreted by our pineal gland in response to light or darkness, which tells your brain when it’s time to sleep and wake up.
The missing or mutated RAI1 gene means that people with SMS often have an irregular sleep-wake cycle, and their sleep patterns can become interrupted.
Other factors that may impact sleep include bed-wetting, pain, anxiety, and snoring. Obstructive sleep apnoea (OSA) is also widely reported, a chronic medical condition in which breathing repeatedly stops and starts again during sleep. Obstructive sleep apnoea can be caused by obesity, large tonsils or adenoids, nasal congestion, allergies, and acid reflux.
Impact on the family
Unsurprisingly, sleep-related difficulties, specifically behaviours shown in the morning, have been found to be related to increased stress in the family. Ensuring the person’s safety – minimising the disruption caused by night-time and early morning waking and ensuring the safety of the person with SMS may help to reduce some of the issues caused by sleep disturbance.
Raising awareness about sleep safety
- Create a room where the person cannot cause harm to themselves (e.g. removing large/heavy objects or using padding on hard surfaces).
- Use safety gates or secure room systems to prevent the person from injuring themselves while walking through the house.
- Provide safe activities to engage the person during periods of wakefulness. While sleep is best promoted in a dark environment, it may be a pragmatic approach for people who simply cannot go back to sleep after following all sleep hygiene guidance to allow them to read books or use their computer/tablet. In reference to the latter, electronic devices should be set to ‘low light’ or a filter setting to reduce the blue light emitted, which is most damaging to sleep.
- Attach a small alarm bell (shed/window alarm) on doors to alert caregivers that their door has been opened.
- Peepholes or ‘stable’ door designs can allow caregivers to check on the person without having to enter the room.
- Use of an enclosed bed can provide security and comfort, for example, safety sleepers. These can be costly and funding can be hard to obtain.
When Harry outgrew his cot and moved into a bed, the family’s problems with sleep really began. This is the story of the Donohue family as they sought to keep their four-year-old son, Harry, and the whole family safe at night by using a Safety Sleeper.
We found that when Harry awoke in the early hours, he would get out of bed and wander around his room and be quite vocal and excitable. Occasionally we could get him back to sleep but invariably it would end up with either myself or my wife taking turns getting up with Harry at around 3 am every day, no mean feat when we both work full-time jobs.
This went on for months, we were both exhausted to the point where doing our jobs was becoming difficult, and beyond Harry going to nursery in the week we had no respite due to the Covid restrictions.
We were at our wits end but thankfully The Smith Magenis Syndrome (SMS) Foundation understand the sleep problems that families within the SMS community face. They offered advice and support, and also let us know that we could enter a prize draw for a trial of the Safety Sleeper, jointly run by The SMS Foundation and Murray’s Medical.
We were one of the winners selected on the Facebook live draw, and from the very first night, this bed changed the course of our family life. Within 3 days of the trial we had made up our mind to buy one, and have not looked back since. It was easy to set up, packs up into a suitcase for travel, and is solidly built but also extremely well padded inside and out, a really well thought out design.
After bringing the travel case with the bed inside up to our son’s bedroom I set about assembling the safety sleeper, which was easy to follow and was fully assembled in less than 10 minutes. The bed is very solidly built and will last him a good number of years, yet every part of it has been well thought out with padding and covers for zips so that from inside there is nothing that Harry could either bump his head on or scratch himself on something sharp or hard.
Once Harry had been bathed and had his favourite stories read to him, we dimmed the lights and waited until he fell asleep and then quietly zipped up the side netting and left him for the night.
We went to bed a few hours later, fully expecting to be up at the usual 3 am. But to our surprise, we were the first to wake at 6 am and Harry was still asleep, waking up a short while later on his own!
Harry has been waking up between 5.30 am and 7 am regularly now, which has restored the energy levels of all three of us and has even meant we have had to go back to setting an alarm on workdays.
While Harry does still wake briefly in the night, he will now play in the dark with his teddys for a short while and then go back to sleep on his own.
We didn’t have to think twice about placing an order to buy one of the beds, and thankfully we were able to purchase one before the trial bed went back, so as to avoid any meltdowns from having the bed taken away from him. I can safely say that they are worth every penny and cannot thank Murrays Medical and the Smith Magenis Syndrome Foundation for giving us this opportunity.Jon Donohue | April 2021
Knowing that he isn’t wandering around his room and is safe and sound in his bed has been such a weight off our minds and being able to get a full night’s sleep has given us back our life and sanity.
Newlife’s Emergency Equipment Loan Service
Newlife’s Emergency Equipment Loan Service aims to address the specific needs of life-threatened/limited and terminally ill children and their families and/or protect children with disabilities from immediate and significant injuries.
This free service provides fast access to equipment for a fixed period while statutory services provide longer-term support.
Other influences on sleep and night-time routines
While there may be a biological factor affecting poor sleep in most people with SMS, is it still very important to ensure good sleep hygiene.
What is sleep hygiene?
Sleep hygiene is an individual’s routine behaviors before going to sleep and while sleeping that promote healthy nighttime sleep. Some strategies to improve the quality of one’s nighttime sleep include:
- establishing good daytime habits
- making sure bedroom is cool, dark and quiet
- regular times for going to bed
- routines (e.g. bath and a story) before bed
- reducing stimulation (activity, TV, computer/device use) before bedtime
- use of essential oils (Lavender, Chamomile, Clary Sage and, Valerian) to promote a calm environment and aid relaxation
- playing white or pink noise, a type of sound that can mask sounds in the environment and help people sleep
There is extensive, high quality, information available for caregivers about sleep hygiene. It might be hard to repeatedly return a person with SMS to their bedroom if they seek out their caregiver, as is often suggested by guidelines, as this can go on for a very long time when the person is simply not as sleepy as other people would be in this situation. However, given suggestions that people with SMS find adult attention very rewarding, it is likely to be particularly important not to ‘reward’ waking with attention. This may be through returning the person to his/her room with no eye contact or conversation, but if this doesn’t work after sustained effort then it could be beneficial to distract a non-sleepy person with suitable activities.
If following guidelines designed for people with an intellectual disability and sleep disturbance, it is likely that caregivers will need to include some flexibility to accommodate specific features of SMS; for example, allowing daytime naps or using distractions at night to occupy those who are unable to go back to sleep.
If inverted melatonin release is the primary cause of sleep disorder in SMS, then treatment providing evening melatonin or suppressing its daytime release (e.g. beta-blockers) might be expected to be effective.
However, the evidence for the effectiveness of melatonin is mixed. Use of melatonin has certainly been reported as being effective in some people, including in combination with a second drug which blocks the effect of daytime melatonin release (a beta-blocker). Using this combination, there are reports of improvement in sleep behaviours (increased total sleep time, reduced early morning waking) and reduced hyperactivity and improved cognitive performance.
Others have found that, while sleep aides (of which melatonin was the most frequently used) are the most common pharmacological treatment used in SMS and the earliest started treatment, their use does not affect caregiver ratings of disruptive behavioural outcomes.
Importantly, melatonin is not reported to be universally effective for improving sleep, for example, it can enable people to go to sleep earlier (yet settling is not reported to be the primary sleep problem in SMS) but then they may wake earlier, thus their total sleep is the same. In some people, melatonin is described as having no effect at all.
There are different types of melatonin that can be used (including time-release melatonin), and other medications have also been used with varying effectiveness. It is important that the prescription and use of medication to treat sleep difficulties is monitored closely by a clinician experienced in this area and with experience of working with people with an intellectual disability.
Shared experiences of sleep strategies
We asked a number of different families living with a child or adult with Smith-Magenis syndrome the following questions:
- Describe their bedroom or nighttime routine
- Do you receive much support for respite in your area?
- What kind of medication do they take?
This film shows how different families manage the challenges of caring for their child through the night, and how they cope with disturbed sleep on a daily basis.
Some strategies that might help
Help the person know when it is ok to get up
Clocks which can be set to show when it is ok to get up in the morning with a sunshine (and moon and stars at night-time when they should stay in bed), such as ‘Gro clocks’, may help to explain this aspect of time. This will not change the person’s sleep but can reduce disruption caused by night-time and early waking.
Create a dark environment
Use black-out blinds to create total darkness in the person’s bedroom.
Allow daytime naps but consider their timing
Preventing a tired person with SMS from napping in the day at all is unlikely to improve their night-time sleep. Allowing naps may also improve daytime behaviour. Naps during the middle of the day (12-3) are better, as later naps might reduce the ability to sleep during the evening/night-time.
Investigate medical issues
There are health issues in SMS which may affect sleep quality. Gastro-oesophageal reflux (where stomach acid escapes into the oesophagus causing discomfort) can affect sleep, as lying down can make it easier for the acid to escape (see the ‘Health’ section). If signs of reflux are being shown, a GP or paediatrician may be able to carry out further investigations. In older people with SMS, sleep-disordered breathing (e.g. loud snoring, sleep apnoea) may be an issue due to risk factors, including weight gain, hypotonia, and ear, nose and throat abnormalities, and this can affect sleep. If a person is snoring or gasping/snorting when asleep, it may be appropriate to seek medical advice.
Seek professional input
If sleep problems become an issue, you may want to approach your health visitor, GP, or paediatrician for advice, or ask to be referred to a Sleep Clinic or the local Child Clinical Psychology Service or Child Mental Health Clinic. Careful use of medication, which is monitored regularly by a clinician with experience of working with people with an intellectual disability, may help some people with SMS to sleep better. However, not everyone will be helped by medication. Furthermore, the effects of medication vary between different people and can change over time in the same person.
Further support and resources for sleep
There are a number of charities and organisations that provide information about sleep including tips, strategies, and resources that may help. These organisations also provide a wealth of information to help people understand the underlying medical and biological causes that affect sleep.
The Cerebra Network for Neurodevelopmental Disorders
The Cerebra Network for Neurodevelopmental Disorders recently ran a virtual online event that took place on 3rd June 2021. Below is a recording of their family session on ‘Autism and Sleep’ and includes panelist Dr. Caroline Richards (Ph.D., ClinPsyD) who is also the joint chairperson of the SMS Foundation Scientific and Research Board. More information about other topics on Cerebra’s virtual event can be found here.
Introduction – Sleep Research in the Cerebra Network (recording)
Key times in this video: 0.30 mins – 0.44 mins
Autism & Sleep Panels (recording)
Key times in this video: 1:00 mins – 1:40 mins