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Background Smith–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. Methods The 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. Results Evidence 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. Conclusions Caregivers’ 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.
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Agaretal. Orphanet Journal of Rare Diseases (2022) 17:35
https://doi.org/10.1186/s13023-021-02159-8
RESEARCH
Caregivers’ experience ofsleep management
inSmith–Magenis syndrome: amixed-methods
study
Georgie Agar1,2*† , Stacey Bissell1,2†, Lucy Wilde3, Nigel Over4, Caitlin Williams1,5, Caroline Richards1,2 and
Chris Oliver1
Abstract
Background: Smith–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.
Methods: The current study used a mixed-methods approach to consider sleep management strategies and chal-
lenges 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 pri-
orities for change in the UK context. Interviews were transcribed verbatim and coded using thematic analysis.
Results: Evidence 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 man-
agement 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 phe-
notype of SMS which may contribute to complex and unusual presentations in relation to sleep management and
safety.
Conclusions: Caregivers’ 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.
Keywords: Caregivers, Parents, Smith–Magenis syndrome, Sleep, Safety, Qualitative, Disability
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Introduction
Smith–Magenis syndrome (SMS) is a rare genetic syn-
drome which occurs in approximately 1 in 25,000 live
births [1]. It is caused by deletion or variation to the
retinoic acid induced 1 gene on chromosome 17p11.2
Open Access
*Correspondence: g.e.agar@bham.ac.uk
Georgie Agar and Stacey Bissell should be considered joint first author
1 School of Psychology, University of Birmingham, 52 Pritchatts Road
Edgbaston, Birmingham B15 2TT, UK
Full list of author information is available at the end of the article
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Agaretal. Orphanet Journal of Rare Diseases (2022) 17:35
[2, 3] an area implicated in the regulation of several cir-
cadian genes [4]. SMS is associated with a well-defined
behavioural phenotype which includes elevated rates
of self-injurious and aggressive behaviour, impulsivity
and preference for adult attention, often from a specific
caregiver [59] Most people with SMS evidence mild to
moderate intellectual disability [10] with relative weak-
ness in adaptive functioning [11].
Perhaps the most striking feature of SMS is the pro-
file of excessive daytime sleepiness and early morning
waking [1215] which is associated with the suggestion
of an ‘inverted’ circadian rhythm in this group [16, 17].
is pattern is thought to be a result of dysregulation of
the retinoic acid induced 1 gene [18]. is dysregulation
is evident in the contrast between the timing of exoge-
nous melatonin release of people with SMS compared to
typically developing controls but lack of difference in the
volume of synthesis [16]. In addition, sleep is objectively
poorer in people with SMS than their age-matched typi-
cally developing peers [14, 15].
Taken together, these aspects of the phenotype may
result in a person with SMS waking early in the morning
with strong motivation to interact with a caregiver imme-
diately, contributing to behaviours such as self-injury,
aggression and temper outbursts. Concerns about impul-
sivity and adaptive functioning may increase the need
for supervision, requiring caregivers to wake early which
may be burdensome and result in less sleep than desired
[19]. Indeed, sleep disturbance is the strongest predictor
of challenging behaviour in people with SMS [20, 21] and
has been associated with parent stress in SMS and other
genetic syndromes with a similar prevalence of sleep dis-
turbance such as Angelman syndrome [22, 23]. Several
studies have begun to explore the wellbeing of caregivers
of people with SMS [19, 24, 25] but none of these have
explored directly the impact of managing sleep distur-
bance on caregivers of peoplewith SMS. is is critical as
the complex behavioural profile of SMS, which may not
be suited to typical sleep management approaches, pro-
vides a unique set of challenges for people with SMS and
their families relating to sleep safety and management.
Interestingly, Heald [26] found that mothers of children
with SMS had higher perceived stress, and higher anxi-
ety and depression than normative scores, but these vari-
ables were not directly associated with child or parent
objective sleep parameters. Rather, wellbeing was signifi-
cantly correlated with mothers’ perception of their own
sleep disturbance. erefore, it may be that factors which
contribute to mothers’ perceived experience of sleep dis-
ruption, such as the unpredictability of sleep patterns or
the broader experience of caregiving for their child over-
night, have a more significant impact on parent wellbe-
ing than the total amount of sleep. First-hand accounts of
the challenges in caring for people with SMS can inform
these interpretations and document the complexity of the
atypically severe sleep management problem. rough
qualitative analysis of caregiver experiences, interactions
between different components of the behavioural pheno-
type and their summative effects can be explored, to gen-
erate models that might then be tested empirically.
To date, no studies have directly examined caregiver
experiences and strategies for managing sleep in people
with SMS, despite the complexity of the behavioural phe-
notype and marked profile of sleep disturbance in this
group. erefore, the aims of this study are:
1. To describe the experiences of caregivers of children
and adults with SMS with regard to sleep manage-
ment and safety at different ages.
2. To describe how interactions between aspects of the
behavioural phenotype of SMS may contribute to
complex and unusual presentations of strategies for
sleep management and safety.
3. To delineate caregiver priorities for intervention and
identify barriers to support, thus informing sleep
management and safety policy for people with SMS.
Methods
We used a mixed-methods approach to explore car-
egiver experiences of sleep safety and management. e
study was approved by the University of Birmingham
ethics board. Forty caregivers completed an online sur-
vey regarding their experiences of managing the sleep
of their child with SMS, which was advertised online via
the Smith–Magenis Syndrome (SMS) Foundation UK,
the research team’s website and social media, and several
international SMS research and family conferences. e
survey was designed in collaboration with the Smith–
Magenis Syndrome (SMS) Foundation UK, but the sur-
vey was open to any caregiver of an individual with
SMS of any age, living in any country. Families from the
UK, USA, Europe and Australia took part. Of the forty
respondents, 27 were mothers of people with SMS and 7
were fathers. One mother and father completed the sur-
vey together, and four reported that they were a ‘parent’
of a person with SMS. Caregivers reported on 39 children
and adults with SMS; three toddlers aged 0–3years, nine
young children aged 4–8years, 11 older children aged
9–12years, three adolescents aged 13–17years and 13
adults aged 18years.
In order to provide a broad picture of concerns around
the impact of poor sleep and sleep management for car-
egivers of people with SMS, the authors developed an
online survey (see Additional file 1). e survey com-
prised background questions relating to the number of
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Agaretal. Orphanet Journal of Rare Diseases (2022) 17:35
people the respondent cared for, the living and sleeping
arrangements of the person with SMS and 11 Likert scale
questions which considered the severity of poor sleep at
each stage of their life. e survey also asked about the
impact of poor sleep on the person with SMS, the car-
egiver and the wider family. Caregivers were also asked
to use free-text boxes to share their experiences of how
managing sleep had changed over time, including any-
thing that consistently improved or decreased their
child’s sleep quality, strategies they used to manage their
child’s sleep and keep them safe at night, and the worst
impact of their child’s poor sleep on themselves and their
child. Quotes from these free-text boxes are presented in
italics throughout.
In addition, 10 face-to-face interviews with 14 caregiv-
ers were conducted in the UK, to increase understand-
ing of caregiver experiences and priorities for change in
the UK context. e majority of caregivers were recruited
to the interview aspect of the study after completing the
online survey and consenting to future parts of the study.
Several caregivers were also recruited through opportun-
istic sampling at the Smith–Magenis Syndrome (SMS)
Foundation UK family conference. All interviews were
conducted by the co-first author (SB). Two of the inter-
views included parent dyads. In another, one parent and
two siblings of an adult with SMS took part. e char-
acteristics of these caregivers are reported in Table 1.
Given the rarity of the syndrome, minimal information
is provided and age information reflects ages advocated
by McDonagh et al., [27]. Interviews were semi-struc-
tured and designed to give caregivers the opportunity to
expand on some areas of the online survey. All interviews
were recorded and transcribed verbatim, then analysed
using NVivo 12 software. is software allows the user
to code transcripts using thematic analysis, according
to ‘nodes’ of interest, which can be pre-determined or
developed during analysis. In this study, the initial nodes
were drawn from the key themes that emerged in the
online survey: sleep at different ages, change over time,
impact on the person with SMS, impact on the caregiver,
impact on the wider family, safety concerns and strategies
and other management strategies. In addition, the theme
of ‘respite’ was added during analysis. Example of quotes
from specific caregivers are used to illustrate the findings.
Results
Sleep atdierent ages
e difficulty of managing each aspect of poor sleep at
each age reported in the online survey is shown in Fig.1.
e results in Fig. 1 demonstrate that of the 35
responses relating to sleep in individuals with SMS
as toddlers, 23 (66%) caregivers found it moderately/
extremely difficult to manage their toddler sleeping too
little, 25 (72%) found it moderately/extremely difficult to
manage their toddler’s wakings and 26 (74%) found man-
aging their toddler’s early waking moderately/extremely
difficult. In the interviews, several caregivers described
issues with their child’s sleep starting from infancy, with
the wakings difficult to manage at even a young age.
“Because everyone says a baby sleeps, a baby sleeps
lots. [He] never slept lots as a baby, at all. e only
time he’d sleep, is if I was walking him in a pram,
and he might sleep for 2 or 3 hours in the night time,
and that was it… [As a toddler] he used to wake up
at 3 and 4, take his nappy off and throw it around
the room, and wouldn’t come and wake anybody up,
just cause hairy carey.” [Caregiver 1]
Of the 32 responses relating to sleep in young chil-
dren with SMS, 23 (72%) caregivers found it moderately/
extremely difficult to manage their young child sleep-
ing too little. Twenty-six (81%) found it moderately/
extremely difficult to manage their young child’s wakings
and 27 (84%) found it moderately/extremely difficult to
manage their young child’s early waking. Several families
indicated that this was the most difficult age period for
sleep.
“Between the age of 3 and 7, she was probably at
her most challenging, and those were the hardest
times, because she just couldn’t be left unsupervised
through the night so we would have to be in there.
[Caregiver 3]
Of the 24 responses relating to older children, 14
(58%) caregivers found it moderately/extremely difficult
to manage their older child sleeping too little. Fifteen
(63%) found it moderately/extremely difficult to manage
Table 1 Characteristics of caregivers who completed face-to-
face interviews
Caregiver 1 Mother of an adolescent male with SMS
Caregiver 2 Father of an adolescent male with SMS
Caregiver 3 Mother of an adolescent female with SMS
Caregiver 4 Father of an adolescent female with SMS
Caregiver 5 Mother of an adolescent male with SMS
Caregiver 6 Mother of a female child with SMS
Caregiver 7 Mother of a female child with SMS
Caregiver 8 Mother of an adult male with SMS
Caregiver 9 Father of an adolescent female with SMS
Caregiver 10 Mother of an adolescent male with SMS
Caregiver 11 Father of an adolescent male with SMS
Caregiver 12 Mother of an adult female with SMS
Caregiver 13 Sister of an adult female with SMS
Caregiver 14 Sister of an adult female with SMS
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Agaretal. Orphanet Journal of Rare Diseases (2022) 17:35
their older child’s wakings and 17 (71%) found it mod-
erately/extremely difficult to manage their older child’s
early waking. Some caregivers described that though
their child still woke regularly at this age, they were more
independent and their waking behaviour was easier to
manage.
“She would still waken up but she decided that she
would go back to her own bed [rather] than sleep in
the parental bed, just stopped.” [Caregiver 9]
“By the time she started secondary school but her
sleeping was improving then, she wasn’t coming into
our room or your room particularly.” [Caregiver 12]
Of the 13 responses relating to sleep in adolescents
with SMS, 7 (54%) caregivers found it moderately/
extremely difficult to manage their adolescent sleeping
too little and 8 (62%) found it moderately/extremely dif-
ficult to manage their adolescents’ waking. Six (46%) car-
egivers found it moderately/extremely difficult to manage
their adolescents’ early waking and 7 (54%) found it mod-
erately/extremely difficult to manage abnormal sleep
behaviours. Of the 12 caregivers reporting on their expe-
riences of managing their adult child with SMS’s sleep,
5 (42%) found it moderately/extremely difficult to man-
age their adult child sleeping too little. Six (50%) found
it moderately/extremely difficult to manage their night
waking, and 5 (42%) their early waking.
Change overtime
Figure2 shows the extent to which caregivers felt these
sleep difficulties became more or less difficult to manage
over time.
Overall, data from the online survey revealed some evi-
dence of improvements over time. For example, several
caregivers reported that the worst period for managing
sleep was when children were young (aged 3–7years).
“It’s always that age band that seems to be the most
tricky, and yes they come out of it a bit easier as they
get older and mature, and slightly more independ-
ent.” [Caregiver 3]
Others reported the change was more gradual.
“She’s less demanding […] when she wakens up, so
although it’s been a gradual change from one stage
to the next, looking back, things are definitely better
now at night than they were, say 10 years ago.” [Car-
egiver 9]
“So yeah, during the 16 years, 15 years, sleep has
changed, now we’re getting to the point where some
nights he’ll be alright and some nights he’s not you
0102030405060708090100
Toddler
Young Child
Older Child
Adolescent
Adult
Seling Problems
0102030405060708090100
Toddler
Young Child
Older Child
Adolescent
Adult
Sleeping Too Lile
0102030405060708090100
Toddler
Young Child
Older Child
Adolescent
Adult
Sleeping Too Much
0102030405060708090100
Toddler
Young Child
Older Child
Adolescent
Adult
Dayme Sleepiness
0102030405060708090100
Toddler
Young Child
Older Child
Adolescent
Adult
Bedme Resistance
0102030405060708090100
Toddler
Young Child
Older Child
Adolescent
Adult
Abnormal Sleep Behaviours
0102030405060708090100
Toddler
Young Child
Older Child
Adolescent
Adult
Night Waking
0102030405060708090100
Toddler
Young Child
Older Child
Adolescent
Adult
Early Morning Waking
Fig. 1 The percentage of caregivers experiencing difficulty managing each aspect of poor sleep at each age
Page 5 of 15
Agaretal. Orphanet Journal of Rare Diseases (2022) 17:35
know.” [Caregiver 10]
However, a substantial number of caregivers felt that
their child’s sleep had not changed at all over time. In one
survey response, the caregiver stated “I have accepted
that my son’s sleep pattern won’t change…..I have
adapted…so wake early and go to bed early. is was
echoed in several of the face-to-face interviews, when
asked how their child’s sleep had changed over time, car-
egivers responded:
“It’s still much and muchness hasn’t really changed
at all.” [Caregiver 11]
“Probably not really, basically.” [Caregiver 8]
Impact ofsleep ontheperson withSMS
e impact of these sleep difficulties on the person with
SMS was reported to be extremely difficult for 13 of the
37 respondents (35%), and moderately difficult for a
further 10 respondents (27%). Only two (5%) caregivers
reported that the sleep problems had no impact on their
child. When asked to provide examples of the impact on
their child in the survey, parents reported a range of inci-
dents 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”.
Figure3 depicts the extent to which various behaviours
became more or less difficult to manage in people with
SMS as a result of their sleep difficulties.
Figure3 demonstrates that the most difficult behav-
iour for caregivers to manage was challenging behav-
iour, with qualitative descriptions in the survey of
terrible exhaustion at school with aggressive melt-
downs, and severe self-injury overnight “at its worst my
daughter was up 102 times in the night, head banging
the cot, led to bruising, throwing herself from one side
of the cot to the other, screaming and hair pulling. e
relationship between sleep and daytime challenging
behaviour was also frequently described in several car-
egiver interviews, though this was not always a direct
association.
“I think, it massively has an impact on her behav-
iour like the worse her sleep is the worse her behav-
iours are and I suppose as she gets older those
behaviours become more destructive don’t they
and more damaging.” [Caregiver 7]
“No there’s definitely, if she’s sleep deprived the
night before, the behaviour the next day would be
worse, doesn’t always correlate, she could have a
perfect night’s sleep and still be badly behaved, so
it wasn’t the only trigger.” [Caregiver 9]
In all the interviews, caregivers described the daytime
fatigue their child with SMS experienced, including
regularly falling asleep in the car and at mealtimes. For
some individuals, this daytime fatigue seemed to esca-
late challenging behaviour.
“She very often will fall asleep in her dinner at
0% 10% 20% 30% 40% 50% 60% 70% 80% 90% 100%
Seling problems
Sleeping too lile
Sleeping too much
Dayme sleepiness
Bedme resistance
Abnormal sleep behaviours
Night-me waking
Early morning waking
Less Difficult No ChangeMore Difficult
Fig. 2 The percentage of caregivers who found each aspect of poor sleep more difficult, less difficult or the same level of difficulty over time
Page 6 of 15
Agaretal. Orphanet Journal of Rare Diseases (2022) 17:35
lunch time and I mean literally like fall […] will
literally just fall asleep.” [Caregiver 7]
“When he’s fatigued and angry he wants to lash
out and his lashing out will be to annoy you in
some way, so hell pick something that you’re really
sensitive about.” [Caregiver 11]
Impact ofsleep oncaregiver
e majority of caregivers (29/38, 76%) reported that
their child’s sleep difficulties also had an extremely sig-
nificant (19/38, 50%) or moderate impact (10/38, 26%)
on themselves. One caregiver explained: “Chronic lack of
sleep is hard to deal with on many levels. With a newborn,
you know it’s going to end someday. With SMS, there is no
0% 10% 20%30% 40%50% 60%70% 80% 90%100%
Challenging dayme behaviours
Relaonship difficules with family members
Relaonship difficules with peers
Dayme fague
Problems coping at school/college/dayme placement
Physical health problems
Less Difficult Neither More or Less Difficult More Difficult
Fig. 3 The percentage of caregivers who found each aspect of the person with SMS’ behaviour more or less difficult to manage as a result of their
poor sleep
0% 10%20% 30%40% 50%60% 70%80% 90%100%
Stress
Sleep deprivaon
Relaonship difficules with family members
Relaonship difficules with friends/colleagues
Problems compleng work/day-to-day tasks
Physical health problems
Difficulty concentrang
Less Difficult Neither More or Less Difficult More Difficult
Fig. 4 The percentage of caregivers who found each aspect of their own wellbeing more or less difficult to manage as a result of the person with
SMS’ poor sleep
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Agaretal. Orphanet Journal of Rare Diseases (2022) 17:35
end in sight. Long term, pervasive lack of sleep affects my
entire life—my ability to focus and get things done at work,
my relationship with my husband and kids, relationships
with other family and friends. It affects everything in my
life and makes everything harder.” Only two caregivers
reported their child’s sleep difficulties had no impact on
them as caregivers. Figure4 demonstrates the impact of
the person with SMS’ poor sleep on a range of caregiver
outcomes.
e majority of caregivers experienced sleep depriva-
tion and stress as extremely difficult to manage. In free
text response, one caregiver explained, “Exhaustion and
fatigue have a direct impact on my job, some days I have
severe ’brain fog’. Over the years I have suffered depression
and anxiety for which I am now medicated. It just makes
functioning on a daily basis so much more challenging.
In the face-to-face interviews, the impact on caregiv-
ers was explored further, with many caregivers describ-
ing their own sleep deprivation and how this impacted on
their ability to function at work and support their child.
“Well that’s even worse, every hour of the day to
be that strong and that’s the challenge for all of us,
especially when you’re sleep deprived because you’re
getting up really early and dealing with their aggres-
sive behaviour and trying desperately to manage
all these other things so that you can try and make
them a bit more independent.” [Caregiver 5]
“Yeah you’re just on your knees with like tiredness
but you’re still trying to look after the other two,
still trying to go to work and it just yeah just…and
it affects you doesn’t it because your like health
massively like goes downhill as well…I worry about
myself as well because like how much longer can you
go on surviving when you barely like some days are
fine and other days are really not but…Probably two
hours sleep and that when you’ve got to do a day’s
work as well.” [Caregiver 7]
“I was saying I’ve got to look after myself because I’m
not even going to be here to fight his battles if I carry
on not having that, no sleep, you know four hours
a night is not going to make me a healthy person.
[Caregiver 8]
Caregivers also reported that their child’s sleep affected
their stress levels and mental health.
“It’s the pressure of coping when you are aware that
there isn’t a light at the end of a tunnel that this is
going to go on and on and on and if you have the
flu […] or if you’re injured, you ain’t got a choice
you gotta carry on and that’s where it starts hurt-
ing when you have a bad day and you’re naturally
fatigued and then… your behaviour starts then esca-
lating and cascading into the marriage into your
other children and you get into a vicious cycle.” [Car-
egiver 11]
“I was having major suicidal tendencies, you know,
thoughts in my head because he was being illegally
excluded and I had nowhere to go, and they battered
us away.” [Caregiver 1]
“Basically I was so stressed out […] learning how to
meditate, destress, everything, that takes the pres-
sure off. It’s kind of the only way I’ve done it […]
that was a change basically because I was on anti-
depressants and all the rest.” [Caregiver 8]
Some caregivers had also experienced difficulties in
their relationships with their partner, family members
and friends as a result of their child’s poor sleep.
And a lot of our relatives don’t really understand
either. ey’re like ‘oh just keep her up longer and
she’ll sleep’, no, she won’t…” [Caregiver 6]
“It broke my marriage up her sleep was that bad I
think because [he] just couldn’t cope.” [Caregiver 7]
“People shun us mostly.” [Caregiver 11]
Impact ofsleep onwider family
In Fig.5, the impact of managing the sleep of the person
with SMS on the wider family (partners and siblings) is
reported. As with the caregiver responding to the survey,
the most difficult issues for partners and siblings to man-
age were sleep deprivation and stress.
ese issues were further explored in the caregiver
interviews, with some caregivers reporting that their
other children experienced sleep deprivation as a result
of their child with SMS’ poor sleep.
“Yeah, he’s tired in the mornings. ere are mornings
where he’s like ‘Mummy, [sibling with SMS] woke me
up’ you can tell that if he’d been allowed to sleep he
would have slept. So now he’s into the habit of get-
ting up really early because it’s something that he’s
always done.” [Caregiver 6]
“Because she used to be a lot more active at night,
like she used to come into my room when I would live
at home and she would wake me up a lot […] Like
sometimes I would turn up in the morning like ‘you
woke me up three times last night and came through
at 3’.” [Caregiver 14, a sibling of an adult female with
SMS]
However, some caregivers reported that siblings appear
to have adapted to the person with SMS’ poor sleep.
“It was always disturbances in the night. I think he
managed quite well to learn to sleep ignoring the
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noise that was going on basically. [Caregiver 8]
She’d be woken up by [child with SMS] and then
but do you know what I think the body is a brilliant
thing because she’ll sleep through anything now and
I think her body has aswitch.” [Caregiver 10]
Others suggested that parenting their child with SMS
and managing their sleep may have impacted on their
ability to care for their other children in the way they
would like to. As one caregiver on the online survey
reported, “Life revolves around SMSer”.
“She [sibling] doesn’t have sleep deprivation she has
attention deprivation…we will still defer to [child
with SMS] most of the time because we know a lot of
the time [child with SMS] can’t control it and other
times it’s just easier to manage [sibling’s] disappoint-
ment than [child with SMS’] anger.” [Caregiver 11]
Safety concerns andstrategies
In the online survey, caregivers described a range of con-
cerns around the safety of their child with SMS, and vari-
ous strategies to mitigate these concerns overnight (see
Table2).
ese concerns and strategies were further discussed
in caregiver interviews, with many caregivers describing
their concerns around their children’s behaviour and the
need to monitor their child overnight to keep them safe.
One caregiver described the need to “sleep with one eye
open” in the online survey.
“When I realised he could get on the window ledge
and open the windows, that was terrifying and that’s
another reason why that works what we’ve done now,
put the shutter on the outside, I know he can open
the window and bang it but it only opens an inch so
he cannot get out and get out there. Yeah and like-
wise when he was taking his bed apart, […] that’s
a real safety issue so all of these things are safety
issues.” [Caregiver 5]
“I’m actually really worried that she’s going to climb
over the stairgate and she’ll be down the stairs and
she’ll be in my knife drawer and all things like that
[…] We’ve got a video monitor on her as well so we
can see what she’s doing at all times. We did try, you
know you can get those alarm sensors that go under
beds, we had one with our first child as well so you
know if he stopped breathing in the night. We tried
that with [child with SMS] but you know it was
alarming every 5 minutes…”[Caregiver 6]
“If your child is safe at night time and you know
they’re safe then as a parent you can sleep. If you’re
worried about that child escaping then you’re not
going to sleep and then you can’t get through the
whole of the day can you, that’s how I look at it.
[Caregiver 10]
Caregivers often reported adapting their children’s bed-
rooms and access to other rooms in the house overnight
in order to keep them safe.
“She’s not in a contained bed, and her room is not
locked. So she has access to the house, but she does
not have access to certain rooms in the house.” [Car-
egiver 3]
“So, certain things, at night time we have to then
take out of the kitchen and lock in the garage. But,
we’ve got used to actually separating our kitchen.
[Caregiver 1]
“In a normal house you don’t have a socket up at
that height and the reason […] is so that we could
put a clock in his room and plug it in without him
0% 10% 20% 30% 40% 50% 60% 70% 80% 90% 100%
Stress
Sleep deprivaon
Relaonship difficules with others
Increased behavioural problems
Problems coping at work or school
Physical health problems
Difficulty concentrang
Impact on Partner
Less Difficult Neither More or Less Difficult More Difficult
0% 10% 20% 30% 40% 50% 60% 70% 80% 90% 100%
Stress
Sleep deprivaon
Relaonship difficules with others
Increased behavioural problems
Problems coping at work or school
Physical health problems
Difficulty concentrang
Impact on Sibling(s)
Less Difficult Neither More or Less Difficult More Difficult
Fig. 5 The difficulty of managing wellbeing for members of the wider family as a result of the person with SMS’ poor sleep
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wrapping the cable round his neck in the middle of
the night because again that sort of thing is a real
risk.” [Caregiver 5]
“We had a room built when he was 5 that has a
window through from my room to his room, had
all the sockets high up so he couldn’t reach them
and everything was basically safe for him so he
couldn’t get the windows and couldn’t get the door
and all that so that was built up when he was 5
so we’ve pretty much, his room was kind of a safe
space in itself.” [Caregiver 8]
Several caregivers reported that their children with
SMS benefited from having an enclosed bed system,
comprised of detachable fabric and meshing without
any hard surfaces (also known as a ‘safe space’ or ‘safety
sleeper’) where they could sleep at night.
“I think if he’s feeling safe, he feels better and that’s
Table 2 Safety concerns and strategies reported by caregivers in the online survey
Number Example
Concerns
Trying to ‘cook’ 6 “She tried to cook porridge in the microwave and set it to 99 min, the
microwave caught fire!”
Self-injury 5 “She has head butt the floor in a rage and bitten her hands to the point she
has drawn blood.
“Smashed a hole in the wall in her room with her head”
Foraging for food 4 “Or eating anything and everything out of the fridge or cupboards.
Destruction of property 4 “He flushed toys down the toilet and flooded our home.
Trying to leave the house over night 2 “She nearly died of hypothermia when she was little because she left the
room in a hotel in New Hampshire and got locked between the fire door
and outdoors. By the time we found her she was unresponsive with a
temperature in the 80s Fahrenheit.
Climbing up furniture/windows 2 “Climbed out of 1st floor bedroom window at 2 years.
Fire starting 2 “Trying to set house on fire.”
Interfering with plugs/plumbing 1 “Has dismantled plug sockets and cut wires unscrewed plumbing with hot
water.
‘Helping’ with domestic chores 1 “She once decided to ’help’ us with the ironing. She left the iron switched
on and face down on the ironing board so that it burned a hole through it.
Smearing 1 “Smearing following soiled nappy.
Accessing sharp objects/matches 1 “Managing to get hold of matches and hurting her self. Spent a week in a
burns unit. Matches were hidden!”
Falling out of bed/cot 1 “He used to rock his cot to get out of that and he had fallen out of his cot.
Aggression 1 “Gave me a bloody nose by head butting me as I was trying to calm her
and get her to sleep.
Strategies
Lock/stair gate on bedroom door 12 “We have locked gates on her room, we have no choice!”
Adapted bedroom to remove furniture, sharp items etc 10 “Room was stripped back to essential items due to disruption and destruc-
tion.
Enclosed bed 8 “Sleeps in a high sided padded profiling bed and has a safety sleeper or
respite and holidays.
Video/baby monitor in individual’s room 6 “CCTV in his room so that we can see what he is doing.”
Co-sleeping 6 “We lock him in our room and he sleeps with us.
Locking doors to other rooms in the house 5 “Kitchen door is also locked at night.”
Constant supervision 5 “I always wake when he wakes.
Locked windows 4 “Installed special front door and windows so he can’t open them.
Strategies to help child self-manage (e.g. use of iPad overnight) 3 “Once he has his iPad he is ok and will self manage in his room until 6:30.
Hiding keys/food/potentially dangerous objects 3 “We have a ’lock down’ routine before we go to bed every night. Always
careful not to leave something out that could be potentially harmful to her,
or endanger everyone else. It requires us to always be vigilant and careful.
Alarms on doors 2 “We have doors to rooms with dangerous appliances/things like the
kitchen alarmed.”
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Agaretal. Orphanet Journal of Rare Diseases (2022) 17:35
why probably he doesn’t sleep as well here as he does
in his care home because he hasn’t got the safe space
round him.” [Caregiver 8]
“e sleep tent will go with us when we’re not sleep-
ing here and so that enables us to pop him in that
and whilst it doesn’t stop him waking up and yell-
ing for mummy to come to him at anything from 4
o’clock onwards, it does mean that I know that he’s
safe in his room and not wandering about a strange
person’s house.” [Caregiver 5]
“Get a safety sleeper literally like as soon as you can
is my only like because there wasn’t, looking back
there was nothing else that you could do because
no matter how much reassurance you give her she
doesn’t want it and she wasn’t able to sleep I don’t
think was able to sleep for any longer than she was
so at least they’ve got somewhere safe to be I think
and you know that they’re not going to hurt them-
selves and that was my biggest biggest worry with
her.” [Caregiver 7]
Other management strategies
Caregivers reported on the effectiveness of medication,
sleep hygiene and adapting the sleeping environment
as management strategies for their child’s poor sleep in
the online survey (see Table3). Of these, the most effec-
tive strategy appeared to be use of medication. Some
caregivers reported receiving help with these strategies
from councils, social work, psychology and occupational
therapy teams as well as charities such as Newlife and the
Smith–Magenis Syndrome (SMS) Foundation UK. How-
ever, the majority of families did not and reported plan-
ning and paying for adaptations themselves.
From the caregiver interviews, three main strategies
emerged: adapting sleeping patterns to ‘take turns’ with a
partner in caring for the child with SMS overnight, use of
medications, and sleep hygiene principles. Two families
also reported co-sleeping with their child for at least part
of the night, and one family described discouraging day-
time napping.
ree families reported that caregivers managed their
child’s sleep by taking turns to monitor them, in order to
reduce the effects of sleep deprivation on each caregiver.
“So we did sleep in separate bedrooms and sort of
swapped over and had a rota that worked for us.
[Caregiver 5]
“So that’s why we have to tag team it, I’ll do the first
half, you do the second half, because we both can’t
do this together one eye open at the same time,
because we’re going to kill each other otherwise. It’s
a competition of who’s had more sleep.” [Caregiver 1]
“Yeah so we always had the third bedroom on the
go so that the person that was having the night off
would have a full unbroken night’s sleep or as much
as possible.” [Caregiver 9]
e use of medication to manage sleep was discussed
in 6 of the 10 interviews. In three families, the medica-
tion was deemed to be helpful:
“Yeah, 1 tablet, 2mg. So she takes that every day and
we’ve been doing that for years now, and that seems
to regulate things enough for us, which is good.” [Car-
egiver 3]
In the other three families, medication was
discontinued:
“She was on melatonin as a child but not for very
Table 3 Management strategies implemented by thirty-nine caregivers and their effectiveness reported in the online survey
Level of improvement reported following implementation of strategy
Not
implemented No
improvement Slight
improvement Somewhat
signicant
improvement
Moderate
improvement Extremely
signicant
improvement
Number who received
professional input for
strategy
Medication 8 7 4 5 5 10 -
Examples listed Acebutolol, alimemazine, aripiprazole, atenolol, atomoxetine, cannabidiol, chloral hydrate, clonidine hydrochloride, desmopressin,
doxycycline, fluoxetine, guanfacine, melatonin, methylphenidate, omeprazole, promethazine, ramipril, risperidone, tasimelteon,
trazodone
Sleep hygiene 12 8 5 7 4 3 12
Examples listed Same routine, black out blind, earlier bedtime than peers, warm shower later afternoon
Adapted sleep-
ing environ-
ment
17 4 1 6 3 8 9
Examples listed Stair gates, removed furniture, council funded extension and house renovation, light switch on a timer
Other 36 0 0 1 0 2 -
Examples listed Feeding through the night, adapting sleep arrangements to fit with child, holistic treatment
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long. We didn’t find that it really worked, didn’t
really make a lot of difference and I think there was
another suggestion that she could have gone on beta
blockers but I didn’t bother with that.” [Caregiver 12]
“No, they stopped it up there because they wanted to
do tests and it wouldn’t make any difference, I never
really thought it did. We had increased it and that
made him angry so we went back to slow release
which I never liked to stop because in case it made it
worse but I pretty much thought that it didn’t make
a lot of difference because his sleep patterns never
really changed from taking it.” [Caregiver 8]
Similarly, several families reported success with sleep
hygiene based management strategies, including ensur-
ing the child had a consistent bedtime routine and sleep-
promoting environment:
“I just think a) having a strong bedtime routine
is absolutely imperative, b) ensuring that you are
clear about it is bedtime. One of the other tips we
were given by the sleep consultant was when they’re
clinging to you and they don’t want you to go is go
out, even if you don’t want to secure them in their
room, is just stand outside their room and hold that
door handle until they are bored silly and they get
back to bed and then they get the picture that you’ve
gone out the room and you are not coming back in
because it’s sleep time and you can stand outside the
room crying your eyes out and they’re crying their
eyes out the other side but you’ve got to do it, you
have got to do it.” [Caregiver 5]
Any parent with SMS coming out now, I think edu-
cate them now on sleep at a very very early age, edu-
cate the parents on a good sleep, you know totally
blackout, we’ve got blackout curtains in the bed-
room, you know, sort of they need to be educated
early on and telling them about you know sleep
issues or whatever.” [Caregiver 10]
And likewise, if she was getting up I wouldn’t go
into her room and be lying and cuddling her for ages
because again it would just be short, back to bed, I
go, I go out of the room because otherwise again
maybe it’s just an attention seeking thing, she wants
the cuddles, the hugs, so no, that’s not the time for
that now. But another parent might actually find
that quite difficult whereas I was able to say no, as
much as I might want to give you a hug now it’s time
to sleep and I need to sleep. You’ve gotta be, what do
they say, you’ve gotta be cruel to be kind or what-
ever.” [Caregiver 12]
However, for the majority of families, sleep hygiene
strategies were not effective in managing their child’s
sleep, and suggested that a different approach was needed
for people with SMS:
“Somebody talked about that at the conference
didn’t they, having good sleep hygiene. Well do you
know what, [she]’s got amazing sleep hygiene, prob-
ably better than any child you’ve ever met, but yet
she still won’t stay in bed.” [Caregiver 6]
“Because everyone always talks about sleep hygiene,
it’s all about sleep hygiene and I find that really frus-
trating because like I don’t actually know what […]
more we can provide.” [Caregiver 7]
“Obviously doesn’t make any difference what you do
basically, his Smith–Magenis will override every-
thing.” [Caregiver 8]
“Yeah we had the sleep management specialist
and she was no use whatsoever…Well we tried to
get across the specific […] difficulties that Smith-
Magenis children have with specific sleep issues. She
wouldn’t have any of that at all, she wouldn’t treat
children differently from someone that was just a
behavioural thing which they could control.” [Car-
egiver 9]
“Yeah I totally agree sleep hygiene is fantastic but
when I’ve got two children and one sleeps perfectly
and one doesn’t and they’re in the same routine it
sets your mind off when you then find out there’s a
genetic driver underneath it, sleep hygiene does play
a part but it’s not a massive part, his wake up time is
governed same as everybody else’s by a […] circadian
rhythm.” [Caregiver 11]
Respite
In the online survey, only 5/35 (14%) caregivers reported
having access to weekly respite for their child with SMS,
6/35 (17%) monthly and 5/35 (14%) less than once per
month. e majority of caregivers (19/35, 54%) stated
that they did not have access to any respite, despite
17/35 (49%) stating weekly respite would be their ideal
provision.
Many of the caregivers interviewed described regular
respite as helpful in managing their child’s sleep. How-
ever, the interviews revealed a disparity in provision
across different areas of the UK.
“We try and have one weekend night a month, so
maybe a Friday or a Saturday night. We don’t do
two nights in a row.” [Caregiver 3]
“e beauty of the two nights is you get that whole
night of relaxation, you can have a relaxing day you
can go to bed relaxed and have a proper sleep and
then wake up cope with stuff but when you’re con-
stantly on edge because you’re thinking is the phone
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Agaretal. Orphanet Journal of Rare Diseases (2022) 17:35
going to ring it stops you doing a lot of stuff.” [Car-
egiver 11]
“I never had any difficulties but I know I’m one of
the lucky ones. I know, I hear of the stories and they
don’t get any, they’ve never had any respite.” [Car-
egiver 10]
Many families wanted respite but were unable to access
this through social services. ose that were eligible
often struggled to find suitable provision in their area:
“We were told that the only way we would be able
to get overnight respite now is if we were to declare
ourselves unable to look after her at night and
essentially put her on the at risk register and that’s
something we weren’t prepared to do because it only
takes, she head-butts the floor and she’s got a bruise
on her head, it only takes one social worker not to
understand and she’s no longer living with us is she
so we wouldn’t, we didn’t put her on the at risk regis-
ter.” [Caregiver 6]
“No we’ve been told we’re not eligible for it. I’ve had a
bit of a nightmare with social services I will be hon-
est, we’ve had three referrals I think to social services
for respite or for some help and they literally dug
their heels in and said [she]’s too young.” [Caregiver
7]
“So it’s not about money. ere’s nobody out here
locally, that is willing to come and sit in our house,
go to sleep at night, let us sleep somewhere else, just
so they can monitor him once a night, so we can get
one night’s sleep a month. ere’s nobody out there.
[Caregiver 1]
“I’m in conversation with the social worker to see if
we can get direct payments so we can find someone
who will actually come and sleep here but even that
is finding somebody, you know, direct payments are
a great idea but actually where are these people who
are queuing up to do these jobs that have the skills to
be able to do it.” [Caregiver 5]
Discussion
is study represents the first detailed investigation of
caregiver experiences of managing sleep in people with
SMS, a syndrome with significant sleep disturbance and
a behavioural phenotype of elevated impulsivity, self-
injury, aggression and temper outbursts. e mixed-
methods approach using an online survey developed
in collaboration with relevant parents and profession-
als, and a semi-structured interview to gain a broader
understanding of caregiver experiences, strengthens the
validity of the findings and allows exploration of the com-
plexity of the behavioural phenotype in SMS in relation
to sleep management. By describing the cumulative and
interactive effect of components of a behavioural pheno-
type which may underpin the severe sleep management
problem in SMS, our findings highlight the need for
syndrome-sensitive approaches to caregiver support for
sleep management.
Overall, the results clearly indicate that caregivers
experience substantial difficulty in managing the sleep of
their children with SMS, though some improvements are
reported as children get older. Given the complexity of
the behavioural phenotype of SMS, these sleep manage-
ment difficulties are likely influenced by biological, cogni-
tive and social factors which combine to produce unique
interactive and summative effects [28]. is syndrome
related complexity likely makes poor sleep less amenable
to standard intervention approaches which do not take
into account the specific difficulties faced by people with
SMS and their families. For example, the use of a standard
behavioural intervention for insomnia, such as graduated
extinction (where caregivers do not attend to the child
overnight until an agreed checking time has elapsed; [29],
is arguably neither ethical nor feasible in the vast major-
ity of people with SMS given the dangerous aspects of the
behavioural phenotype [57, 30]. It is therefore likely that
parental frustration and stress is exacerbated by receiving
standardised advice from professionals which does not
consider all aspects of the phenotype of the syndrome
and the unique complexity of interactive and summative
effects. erefore, SMS specific sleep safety and manage-
ment guidance is needed.
Almost all caregivers reported that their child’s poor
sleep had a significant impact on the child themselves,
as well as the caregiver and wider family. In particular,
caregivers noted their children’s poor sleep was associ-
ated with daytime fatigue and challenging behaviour.
is supports earlier work by Dykens and Smith [20]
and Fidler etal. [21] which found sleep disturbance to
be a major predictor of daytime challenging behaviour in
people with SMS. However, some families did note this
association was not always direct, with suggestions on
the online survey that challenging behaviour may also be
linked to anxiety and anticipation of events. Caregivers
also suggested sleep and temper outbursts were linked
to poor health including pain from constipation and per-
sistent ear infections. is highlights the need for profes-
sionals to assess and rule out pain in people with SMS,
particularly before trialling behavioural interventions for
poor sleep [31].
Unsurprisingly, managing their child’s poor sleep was
very difficult for most families who took part, and the
majority of caregivers said they experienced stress and
sleep deprivation as much more difficult to manage
because of their child’s poor sleep. is supports Heald
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Agaretal. Orphanet Journal of Rare Diseases (2022) 17:35
[26] which suggests mothers of children with SMS have
higher than normative perceived stress, depression and
anxiety which is linked to their perception of their own
sleep disturbance rather than their objective sleep param-
eters. As in Foster et al., [19] some families reported
relationship difficulties between family members, with
concerns that “life revolves around SMSer” reducing car-
egivers’ capacity to spend time with their partner and
other children. Although some families reported siblings
did experience sleep disturbance as a result of the poor
sleep of the person with SMS, others suggested siblings
had adapted and were able to sleep better as a result.
ese insights into family dynamics and difficulties are
important considerations for services looking to support
thewhole family around a child with SMS.
Caregivers reported a range of practices in managing
their child’s sleep, including varying use of medication
and sleep hygiene principles, and idiosyncratic strate-
gies such as avoiding napping. In particular, caregiv-
ers reported concerns around keeping their child safe
at night and having to adapt the environment and their
own practices to ensure this, given the profile of adap-
tive functioning, impulsivity, self-injury, aggression and
temper outbursts in SMS [57, 11]. Common strategies
included taking turns with a partner to monitor their
child overnight and limit sleep deprivation, using an
enclosed bed system and/or restricting access to other
rooms in the house overnight. Some families also used
safety gates, locks on doors and windows, video moni-
tors and alarm systems to ensure their child was not able
to climb out of the house, access kitchen appliances or
harm themselves overnight. Fourteen out of thirty-nine
caregivers reported that their child’s safety was a top pri-
ority for sleep management, so this is important for pro-
fessionals to note when supporting families through sleep
interventions.
Results from the survey suggest people with SMS are
prescribed a wide range of medications to aid sleep, and
caregivers reported varying effectiveness. Several peo-
ple with SMS were reportedly treated with a combina-
tion of melatonin and acebutolol to manage nighttime
sleep duration and daytime sleepiness [32]. In the inter-
views, several caregivers described sleep medications as
working well, whilst others reported that they had been
discontinued as they did not make a significant improve-
ment to the person’s sleep. is suggests regular review
of medications used to manage sleep in SMS may be ben-
eficial and indicates that further input is likely needed
beyond medication. Sleep hygiene is one intervention
approach which is commonly recommended in the wider
intellectual disability literature [33] and can be used
alongside or in place of medication to aid sleep. Sleep
hygiene practices aim to improve sleep by promoting
sleep-onset associations, which help children to settle
at sleep onset and then re-settle after waking without a
caregiver present. Twenty-seven caregivers reported
trialling sleep hygiene strategies, including implement-
ing regular bedtime routines and using blackout blinds,
but only twelve had received professional input for this,
and only three found the strategies to have made an
‘extremely significant’ improvement to their child’s sleep.
is is further supported by Trickett etal. [15] who found
very high levels of sleep hygiene compliance even in a
group of children with SMS with very poor sleep. In that
study there were no significant differences in the sleep
hygiene scores of the SMS group compared to the typi-
cally developing group, despite children with SMS expe-
riencing over an hour and half less total sleep time on
average. In addition, there is limited empirical support
for interactions between children with SMS and their
caregivers at settling [31] which suggests that caregivers
are already implementing sleep hygiene practices and yet
these are not associated with improvements to children’s
sleep.
Furthermore, although some families in both the online
survey and caregiver interviews stated the importance
of sleep hygiene in managing their child’s sleep, this
approach was deemed less effective than medication.
For several families, the underlying biological difference
in the circadian rhythm of their child with SMS [16, 17]
meant sleep hygiene strategies were insufficient, though
professionals working with the family rarely acknowl-
edged this. is suggests a broader understanding of
poor sleep in SMS is needed, beyond the standard sleep
hygiene interventions recommended for children with
intellectual disability, emphasising the potential role of
the inverted circadian rhythm in SMS. is is in line with
recent recommendations in the UK to treat insomnia in
children aged 2–17years with SMS with paediatric pro-
longed release melatonin, where sleep hygiene strategies
have been insufficient. In the USA, where melatonin is
available over-the-counter, formulations and efficacy
likely vary and thus melatonin use should be considered
on an individual basis [34].
Several caregivers described having regular respite as a
useful strategy for managing the poor sleep of the person
with SMS. Respite emerged as a theme in the caregiver
interviews, with the majority of families stating that res-
pite was (or would be) valuable, but in an appropriate
setting. ough some families felt their children would
benefit most from being in a residential unit, others pre-
ferred respite with foster families or through a personal
assistant staying in the family home. However, several
caregivers acknowledged the difficulties of finding an
appropriate carer who would understand their child’s
needs. Several caregivers also described their ineligibility
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Agaretal. Orphanet Journal of Rare Diseases (2022) 17:35
for respite, despite experiencing extreme difficulty in
managing their child’s sleep. ese findings suggest a
‘postcode lottery’ in UK respite provision and support
for families caring for people with SMS which should be
addressed. Similar findings are reported more broadly
for carers of disabled children in Clements and Aiello’s
[35] study of local authority protocols in England. Taken
together, these findings suggest a need for new statutory
guidance to support disabled children. Caregiver pref-
erences around suitability of the setting and individuals
involved in providing respite should also be taken into
account when coordinating provision.
Despite the novelty and importance of these findings,
there are a number of limitations to the study. Firstly, the
interview findings, whilst revealing important caregiver
concerns, priorities, strategies and experiences, are lim-
ited to parents and siblings caring for people with SMS
in a UK context. ese findings will usefully inform UK
service provision, but may not be as relevant in other
contexts, for example where healthcare is not nation-
ally funded, or melatonin is available without prescrip-
tion. However, the results from the online survey, which
formed the basis of the semi-structured interview sched-
ule, were completed internationally and highlight key
similarities in experiences across contexts. Secondly,
there is a possibility of response bias whereby caregiv-
ers who experienced more difficulty in managing their
child’s sleep may have been more likely to participate in
the survey and interviews. It should also be noted that
many participants were recruited through syndrome sup-
port groups and conferences, and thus may have greater
need for and/or access to support and services than those
not involved in these groups. However, given the range of
experiences with service provision, safety strategies and
management approaches reported, this seems unlikely.
Despite this, the survey results likely over-represent
the views of caregivers in higher income countries and
therefore may not be generalisable to caregivers in other
countries who may not have access to the same sleep
management strategies (including a separate sleeping
space for their child, respite, or medication) or hold the
same cultural expectations around solo sleeping. Future
research would therefore benefit from including stand-
ardised measures of caregiver stress, health and socio-
economic factors to further contextualise the findings.
Finally, the survey asked about caregivers’ experience of
sleep management across their child’s lifespan and thus
findings about change over time are reliant on retrospec-
tive memory. e majority of caregivers reported that
they were currently caring for an adult with SMS, and
thus may be less likely to recall their caregiving experi-
ences during the earlier years of their child’s life as accu-
rately as their current experiences.
Conclusions
is study is the first investigation of sleep management
practices amongst caregivers of people with SMS, a syn-
drome characterised by a profile of marked sleep distur-
bance, impulsivity, self-injury, aggression and temper
outbursts, preference for caregiver interaction and com-
promised adaptive functioning. Findings from the online
survey highlight similar difficulties in managing the sleep
of people with SMS across several continents, with nota-
ble impact of poor sleep on caregivers, the wider family
and people with SMS themselves. Safety concerns and
management strategies were also remarkably consistent,
suggesting these concerns emerge as result of the behav-
ioural phenotype of SMS. e findings are strengthened
and illustrated by the semi-structured caregiver inter-
views, which highlight the difficulties of sleep manage-
ment in the UK context, including barriers to respite
provision and concerns around services not understand-
ing the differences needed in sleep management and
safety strategies for people with SMS. ese concerns and
priorities must now be addressed by services and profes-
sionals working with people with SMS and their families
through the development of SMS specific guidance.
Supplementary Information
The online version contains supplementary material available at https:// doi.
org/ 10. 1186/ s13023- 021- 02159-8.
Additional le1: Paper version of Caregiver Survey. Understanding
caregiver experiences of sleep management difficulties in individuals with
Smith–Magenis syndrome (SMS).
Acknowledgements
The authors wish to thank all of the caregivers involved in this study for their
time and support.
Authors’ contributions
GA collected, analysed and interpreted the data and wrote the manuscript.
SB designed the study, collected, analysed and interpreted the data and was
a major contributor in writing the manuscript. LW, NO and CR designed the
study. CW collected and analysed the data. CO designed the study, interpreted
the data and was a major contributor in writing the manuscript. All authors
read and approved the final manuscript.
Funding
This study was supported by funding from Smith–Magenis Syndrome (SMS)
Foundation UK and Cerebra.
Availability of data and materials
Research data are not shared due to privacy or ethical restrictions.
Declarations
Ethics approval and consent to participate
Approval to conduct this human subjects research was obtained by the
University of Birmingham ethics board. Informed consent was obtained from
all patients for being included in the study.
Consent for publication
Not applicable.
Page 15 of 15
Agaretal. Orphanet Journal of Rare Diseases (2022) 17:35
Competing interests
GA declares that she has no competing interest. SB declares that she has no
competing interest. LW declares that she has no competing interest. NO is
Chief Executive Officer of the Smith–Magenis Syndrome (SMS) Foundation UK.
CW declares that she has no competing interest. CR declares that she is on the
scientific advisory board for the Smith–Magenis Syndrome (SMS) Foundation
UK. CO declares that he is on the scientific advisory board for the Smith–
Magenis Syndrome (SMS) Foundation UK.
Author details
1 School of Psychology, University of Birmingham, 52 Pritchatts Road Edgbas-
ton, Birmingham B15 2TT, UK. 2 Cerebra Network for Neurodevelopmental
Disorders, Birmingham, UK. 3 The Open University, Milton Keynes, UK. 4 The
Smith-Magenis Syndrome (SMS) Foundation UK, Livingston, UK. 5 Centre
for Educational Development Appraisal and Research, University of Warwick,
Coventry, UK.
Received: 1 October 2021 Accepted: 19 December 2021
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Article
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Diagnosed sleep disorders and broadly defined ‘sleep problems’ are more prevalent in children with development delay (global developmental deficits, adaptive functioning deficits and intellectual disability) when compared to estimates from typically developing children. Given the complexity of this association, a person-focused approach to the study of sleep in children with developmental delay is warranted. There are, however, issues with this approach in clinical practice, as sleep parameters are largely understood within the context of a typically developing framework. This chapter considers some of the key comorbid factors that may explain the complex association between poor sleep and developmental delay and reflect on some of the practical implications around assessment of sleep in children with additional needs. Clinical aspects relating to biological and behavioural models of sleep, potential perpetuating and protective factors in the context of a clinical formulation and avenues and barriers to behavioural and medical sleep interventions are also discussed. Throughout this chapter, researchers and clinicians are encouraged to consider both individual and familial needs when working towards assessment and treatment objectives for sleep problems in at-risk groups.
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Study Objectives 1) To compare both actigraphy and questionnaire assessed sleep quality and timing in children with Smith-Magenis syndrome (SMS) to a chronologically age-matched typically developing (TD) group. 2) To explore associations between age, nocturnal and diurnal sleep quality and daytime behaviour. Methods Seven nights of actigraphy data were collected from 20 children with SMS (mean age 8.70; SD 2.70) and 20 TD children. Daily parent/teacher ratings of behaviour and sleepiness were obtained. Mixed linear modelling was used to explore associations between total sleep time and daytime naps and behaviour. Results Sleep in children with SMS was characterised by shorter total sleep time (TST), extended night waking, shorter sleep onset, more daytime naps and earlier morning waking compared to the TD group. Considerable inter-daily and inter-individual variability in sleep quality was found in the SMS group, so caution in generalising results is required. An expected inverse association between age and TST was found in the TD group, but no significant association was found for the SMS group. No between group differences in sleep hygiene practices were identified. A bidirectional negative association between TST and nap duration was found for the SMS group. In the SMS group increased afternoon sleepiness was associated with increased irritability (p=.007) and overactivity (p=.005). Conclusion These findings evidence poor sleep quality in SMS and the need to implement evidence-based interventions in this population.