Appendix 13 – Sleep & sleep disorders

Sleep, sleep disorders, use of melatonin, referrals to sleep services, support and resources, research and information about oximetry screening, red flags. 

Sleep issues – how big is the problem?

All children with Down Syndrome have, at some stage in their lives, and for some - throughout their lives - a degree of sleep disordered breathing.  Yet, sleep issues are often under-recognised by physicians and parents because they underestimate these problems and/or assume that they are part of the DS features. For instance, approximately 69% of parents reported that their child with DS did not have sleep issues, but 57% had an abnormal polysomnogram [Shott et al 2006].

Background and overnight oximetry screening: 

As such we have had to adopt a pragmatic approach and screening for this disorder is now an accepted approach in the UK and a good sleep history, taken at every contact.

Sleep history – to be taken at every contact:

  1. 15 minute sleep consultation: A targeted sleep history is an enlightening part of a consultation with many children, the following three questions are suggested as a screening exercise in this excellent article by Jess Turnbull and Mike Farquhar “Fifteen-minute consultation on problems in the healthy child: sleep”.

  • Does your child have any difficulty getting to sleep or staying asleep?

  • Does your child do anything unusual in the night?

  • Is your child unusually sleepy in the daytime?

  • If concerns are apparent more specific history can be gathered:

  • Does your child have any difficulty getting to sleep or staying asleep?

  • Does your child do anything unusual in the night?

  • Is your child unusually sleepy in the daytime?

  • When is bedtime?

  • What do you do in the hour leading up to bedtime?

  • How long does your child take to fall asleep after ‘lights out’?

  • Where does your child fall asleep?

  • Does anybody need to be with the child while he/she is falling asleep?

  • Does your child sleep through, once asleep?

  • Does your child snore, have you noticed pauses in breathing when asleep?

  • Is your child restless in sleep?

  • What time does your child wake in the morning?

  • Is your child tired in the daytime? Does he/she fall asleep during activities?

  • What effect is this having on your family?

  • Any excessive sweating?

  • Daytime mouth-breathing? 

2. Another sleep questionnaire that is quick and useful to use is the BEARS questionnaire

Hypoglossal nerve stimulation for OSA:


NHS England (NHSE) has agreed to fund DISE (drug-induced sleep endoscopy) for assessing the site of obstruction in Down Syndrome (performed by specialist ENT surgeons), to then consider the implantation of hypoglossal nerve stimulation as a treatment for OSA.  Given that compliance with positive airway pressure (CPAP) is low in Down Syndrome, clinicians are hopeful this will be a helpful treatment moving forwards, also comparable to the US experience to date.  (Update October 2023, Dr Martin Samuels, sleep and respiratory consultant, GOSH).  See this paper, on page 9, for more information. 

:Garde AJB, Gibson NA, Samuels MP, et al. Recent advances in paediatric sleep

disordered breathing. Breathe 2022; 18: 220151 [DOI: 10.1183/20734735.0151-2022].


A note on Restlessness – this is often missed – do they have “itchy” legs, “growing pains” in their legs, or constantly re-positioning themselves, sleep in strange positions – consider restless leg syndrome as a cause and check their ferritin (total body iron stores).  Low iron levels can cause restless legs, often missed or misdiagnosed as growing pains or restlessness only.  Ferritin above 50 is what is advised by The Evelina sleep team (in adults they want it above 75) – simple to treat and may make a huge difference. 
Restlessness is a common theme amongst children with DS and reported by parents.  It is something that needs further research on, some are calling it “restless syndrome” (2020) and more work into managing it is advocated.

Home overnight oximetry:

Home overnight oximetry is a screening tool but recent studies show that in Down Syndrome it can be useful. They all have abnormal sleep studies and we would only do that if we were concerned about significant OSA (obstructive sleep apnoea) with sleep disruption and the ENT (ear, nose and throat) required definitive evidence before proceeding with adenotonsillectomy. Many children with Down Syndrome in due course require an ENT review for tonsils and adenoids.

Pragmatically, we reserve our respiratory polysomnography (PSG) for those who are failing their screen and are having secondary sequelae (consequences) from their OSA. This information is sometimes required to show the ENT surgeon that an airway review and intervention is required.

Sometimes we will embark on CPAP (continuous positive airways pressure) trials. But they are notoriously difficult in this group of children who are so often averse to having equipment strapped to their face.

So then - what is a normal trace? There is the concept that normal saturations (SATS) may miss arousals - a self-correction of a decreasing saturation by disturbance of sleep architecture before the machine picks up a dip.  In a non-Down Syndrome child WITH symptoms of OSA or sleep disruption we may look at this further. But for a child with Down Syndrome we probably should  accept the normal screening test as reassuring - even if the trace is not necessarily a perfect straight line in that normal range. (Discussion (Dec. 2018) with Dr Colin Wallis, Paediatric Respiratory consultant and clinical lead at GOSH, our tertiary referral centre). 

Research papers and presentations: 

Use of oximetry screening in children with Down Syndrome by Prof Cathy Hill:
http://wdsc2018.org.uk/wp-content/uploads/2018/09/Cathy-Hill.pdf


Home oximetry to screen for obstructive sleep apnoea in Down Syndrome
Catherine M Hill, Heather E Elphick, Michael Farquhar, Paul Gringras, Ruth M Pickering, Ruth N Kingshott, Jane Martin, Janine Reynolds, Anna Joyce, Johanna C Gavlak, Hazel J Evans.  https://adc.bmj.com/content/103/10/962
Summary:  High prevalence of OSA in young children with Down Syndrome supporting the need for regular screening • Pulse oximetry could provide an accessible screening method for OSA and halve the number of children needing detailed diagnostic studies • We propose that all children with Down Syndrome have regular screening with Masimo pulse oximetry ideally in the home setting in the early years • This would require training and standardisation but the use of the delta 12s index provides a simple threshold screening criteria for the less experienced clinician. 

Cardiorespiratory sleep studies at home: experience in research and clinical cohorts. 

Arch Dis Child. 2018 Nov 19. pii: archdischild-2018-315676. doi: 10.1136/archdischild-2018-315676

http://wdsc2018.org.uk/wp-content/uploads/2018/09/Cathy-Hill.pdf
http://www.bprs.co.uk/documents/RCPCH_sleep_resp_cont_disorders.pdf
https://www.southampton.ac.uk/medicine/about/staff/cmh2.page

RCPCH recommendations regarding screening with oximetry in the community. 

In the UK, due to limited resources, the most common type of sleep study performed in most respiratory centres is not the PSG, but respiratory polygraphy studies which don't include EEG and thus don't have sleep stages. 

All children with Down Syndrome should be offered screening for SRBD, using at least oximetry; suggested screening ages are at least once in infancy then annually until age 3-5 years.  Children with Down Syndrome with abnormalities on screening for SRBD, or where there is a clinical suspicion of a false negative screening test, should have polysomnography, including oximetry, airflow, effort and CO2 measurement.  Video should be included if possible.
If significant SRBD with hypoxia is present in children with Down syndrome, then appropriate treatment should be offered.  Further research is needed on the benefits and risks of screening for SRBD in Down Syndrome. 

Children with Down Syndrome are at high risk of SRBD and nocturnal hypoxaemia, and the high incidence of congenital heart disease in these children makes the development of pulmonary hypertension a significant risk.  SRBD may be difficult to identify symptoms in this group.  Adenotonsillectomy may have a lower rate of success but is still indicated. Other interventions including CPAP are effective but may be difficult to institute.

What about after an adenotonsillectomy – can OSA return in DS?
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515186/#R6
55/108 (51%) who had undergone adenotonsillectomy (AT) for OSA continued to have sleep problems specifically in night awakenings (e.g., need parents in room to sleep), restless sleep, snoring, and daytime sleepiness. Interestingly, the AT group also reported more issues with falling asleep while watching television. Our results suggest that children with DS who undergo AT for OSA continue to have sleep problems suggesting that ongoing monitoring of sleep issues is needed in this population. It is possible that AT is much less effective in treating OSA in DS compared to typically developing population [Merrell & Shott, 2007] possibly due to macroglossia, glossoptosis, recurrent enlargement of the adenoid tonsils, and enlarged lingual tonsils [Shott et al., 2004]. These surgical options are most often curative (95%) of sleep issues in the typically developing population [Nieminen et al., 2000; Schechter, 2002; Shott & Donnelly, 2004].

APPLYING THIS TO BARNET AND ROYAL FREE SETTINGS:

NOTE THAT AT BARNET AND ROYAL FREE HOSPITALS AND COMMUNITY SETTINGS WE HAVE A NELCOR, NOT A MASIMO, AND CANNOT USE A DELTA 12s INDEX. WE ALSO DO NOT HAVE cardiorespiratory polygraphy including respiratory movements, nasal pressure flow, pulse oximetry, body position and motion. We have HPO – home pulse oximetry.  THEREFORE THIS RESEARCH IS CONVINCING AND WE ARE INCLUDING SCREENING (HPO) IN OUR PATHWAY BUT IT IS NOT A TRUE COPY OF THE RESEARCH. The Massimo has the ability to use signal extraction technology for reliable data, in simple terms this means the “wobble” factor is removed, unfortunately the nelcor oximetry machine does not have this.  Discussing with the company it is not something that is available and it cannot produce a delta 12s figure.  Further research is being undertaken by the team in Southampton, with Professor Cathy Hill, to plan an intervention trial and also to trial the cost-effectiveness of the proposed screening approach.``

Note:  There is no evidence about how long screening should continue in these children. We have arbitrarily taken 3-5 years as including the period of highest risk of OSA.  If screening tests are negative up to this age it would seem reasonable not to undertake further tests subsequently unless there are suggestive symptoms. 

Currently it is best practice to discuss overnight oximetry traces with either local paediatrician with interest in respiratory or GOSH.  Remember it is not only the number of desaturations but what the baseline saturations are doing, they should be in the mid-90’s at rest and not in the low 90’s. Don’t forget to ask parents to video the sleep noises and patterns – this can be invaluable.  

Sleep referrals:

GOSH is our main centre for referrals.  Sometimes we can also refer to the Sleep Service at The Evelina Children’s hospital – these are both  specialist tertiary referral services, which aids in the management of children with complex sleep problems.

Referrals are usually only accepted from NHS consultant paediatricians or child and adolescent mental health services but not from GPs or health visitors.   This is because a significant proportion of sleep problems in children can be identified and managed successfully at a primary or secondary care level.  Children can be referred for an initial assessment up to the age of 16.  New referrals of young people aged 17 or over should usually be made to the adult sleep medicine department at Guy's Hospital.  

To refer to GOSH – write a letter to the relevant team.  This can be sent by email or post.  

To refer to the Evelina - To make a referral, download and fill in the referral checklist for sleep medicine (PDF 1.29Mb) and email to: gst-tr.ELCHPaedNeuroReferrals@nhs.net.

https://www.evelinalondon.nhs.uk/our-services/hospital/sleep-medicine-department/referrals.aspx

AT GOSH or the Evelina sleep service there are sleep and respiratory paediatric specialists who are happy to advise.  By referring to the Sleep Service there (consultant in paediatric sleep medicine) they will assess, consider a PSG and refer to the ENT team as needed and arrange follow up – both teams work closely together.

Other useful resources and support:

Infant Sleep Information Service (ISIS) – provides research evidence about biologically normal sleep for human babies.  www.basisonline.org    Very valuable leaflets for parents and understanding of normal sleep

Children’s Sleep Charity: www.thechildrenssleepcharity.org.uk Leaflets on bedtime routine, relaxation before bed, creating a calm bedroom, sleep and diet.  info@thechildrenssleepcharity.org.uk  Tel: 01302 751416 

Contact a family: https://contact.org.uk/media/1183103/helping_your_child_sleep.pdf

Cerebra: 01267 244210 or e-mail us at sleep@cerebra.org.uk 

https://www.cerebra.org.uk/help-and-information/sleep-service/sleep-information/

https://w3.cerebra.org.uk/help-and-information/sleep-service/

Down Syndrome Association (DSA):  https://www.downs-syndrome.org.uk/about-downs-syndrome/health-and-wellbeing/sleep/

SCOPE: https://www.scope.org.uk/child-sleep-services

https://www.scope.org.uk/family-services/sleep-right/

Sleep Right is a free support service, that helps parents and carers of disabled children to improve their child's sleep. Face-to-face sessions are now available, but you can continue with sessions over the phone and online, if you prefer. Sleep Right services support you to modify and adjust your child’s bedtime behaviours.

British Sleep Society: http://www.sleepsociety.org.uk/

Sleep Apnoea Trust: http://www.sleep-apnoea-trust.org/

Raising Children Network – www.raisingchildren.net.au – parental info. on “normal” sleep at different ages.

Sleep medications:

Melatonin: 

Leaflet for parents on melatonin in general:  https://www.medicinesforchildren.org.uk/melatonin-sleep-disorders 

Use of melatonin (outside of use for an EEG investigation): Sleep onset insomnia (initiated under specialist supervision) and Delayed sleep phase syndrome (initiated under specialist supervision)

For Child: By mouth using melatonin modified-release tablets

Initially 2–3 mg daily for 1–2 weeks, then increased if necessary to 4–6 mg daily, dose to be taken 30-60 minutes before desired sleep time/bedtime; maximum 10 mg per day.

Usually prescribed by a paediatrician and GP can continue if effective.

If the child can swallow the tablet whole then it has an initial and overnight effect (modified release).  If it needs to be crushed and dissolved to be taken, it loses its modified release effect and so becomes short acting helping with falling asleep but not maintaining sleep.

Liquid melatonin – is short acting and works at the beginning of the night but not overnight. Usually only given if CYP has a gastrostomy.

Slenyto – is a new form of melatonin that comes in 1mg and 5mg tablets that are only 3mm in diameter – to try to encourage children to be able to swallow the tablet whole (or in eg yoghurt or apple puree) and then it retains its modified release effect working at the start and also overnight.  This can sometimes be prescribed by the paediatrician, sleep centre or GP but is not universal at present.

Sometimes stopping the medication as it is not working eg melatonin and then trying again at a later date, if needed, can have a good effect.

Sleep medications like melatonin should have a 12 monthly review and a break at 12 months ideally, then if needed again starting back at the lowest dose and building up as needed. 

Other sleep medications eg antihistamines or clonidine need discussion with the paediatrician.  Sometimes a 2 week course of promethazine can be helpful in a very stressful situation when the sleep is so broken and impacting the entire family, to try and re-set things and give some sleep. Hypoglossal nerve surgery for treatment of OSA:


Hypoglossal nerve surgery for treatment of OSA:

Update Oct 2023, from Dr Martin Samuels, consultant in paediatric sleep and respiratory medicine:  For your information, we are starting to use DISE (drug-induced sleep endoscopy) for assessing the site of obstruction in Down Syndrome (ENT Mr Colin Butler or Mr Liam Sutton) and then considering the implantation of hypoglossal nerve stimulation as a treatment. This has recently been agreed for payment by NHS England.

Given that compliance with positive airway pressure is low in Down Syndrome, we think this may be a helpful treatment based on US experience to date. We discuss this in the attached paper at the bottom of page 9.

Garde AJB, Gibson NA, Samuels MP, et al. Recent advances in paediatric sleep disordered breathing. Breathe 2022; 18: 220151 [DOI: 10.1183/20734735.0151-2022].