The Type, Severity, and Impact of Sleep Problems in Children With Angelman Syndrome and Parental Help-seeking Patterns

ABSTRACT

Angelman syndrome (AS) is a rare genetic developmental disability that presents with high rates of co-occurring sleep difficulties. Most existing research has focused on the pathophysiology of sleep problems in people with AS, and suggests that sleep problems are the result of genetic and neurobiological factors. However, little is known about the role of the social environment and learning in sleep problems in children with AS. This descriptive study used survey data from 139 parents of children with AS to investigate: 1) the type, topography and severity of children’s sleep problems; 2) the collateral child, parent and family impacts of the sleep problems; 3) treatment selection practices and the perceived effectiveness of these treatments; and 4) sources of support and treatment advice received. Parents reported that the majority of children experienced sleep problems, resulting in numerous deleterious effects on child and family functioning. They also reported high levels of concern about these sleep problems, but low levels of perceived support. Study findings highlight the need to establish a disability-specific profile of the type and impact of sleep problems experienced by children with AS, and have further implications for the delivery of clinical services and support provided to parents of children with AS.

Angelman syndrome (AS) is a genetic neurodevelopmental disability that occurs in approximately 1 in 20,000 people and is the result of abnormalities on the 15q11-q13 chromosome or in the maternal ubiquitin-protein ligase E3A gene (Clayton‐Smith, 1993; Kishino et al., 1997). As in many rare genetic neurodevelopmental disabilities (RGND), AS is characterized by cognitive, motor, and communication difficulties, and frequently, seizure disorders (Clayton-Smith & Laan, 2003; R. Didden, H. P. L. M. Korzilius, et al., 2004). Children with AS also exhibit a unique behavioral phenotype that includes excessive laughter, hyperactivity, stereotypic behavior, feeding difficulties, and sleep problems (Clayton‐Smith, 1993; R. Didden, H. P. L. M. Korzilius, et al., 2004; Summers & Feldman, 1999; Summers et al., 1995).

AS consensus guidelines consider abnormal sleep-wake patterns and diminished need for sleep to be a salient characteristic of AS (Williams, 2005) with 20–80% affected (Williams et al., 1995). Sleep problems can include circadian disturbances, problems with sleep onset and maintenance, and parasomnias (e.g., bruxism, somnambulism). Syndrome-specific issues have also been documented in children with AS, including reduced total sleep time, dependence on sleep aids, bruxism, nighttime laughter, and sleep movement problems (e.g., hypnic myoclonias; Bruni et al., 2004; Clayton‐Smith, 1993; R. Didden, H. P. L. M. Korzilius, et al., 2004; Pelc et al., 2008; Spruyt et al., 2018; Takaesu et al., 2012; Walz et al., 2005).

Current research has focused on the pathophysiology of sleep problems in people with AS, particularly genetic and neurobiological factors (Spruyt et al., 2018), including abnormalities in the production, secretion, and regulation of melatonin plus co-occurring medical conditions (e.g., seizure activity, sleep disordered breathing, gastrointestinal problems), all of which may interact and result in abnormal circadian rhythms and sleep architecture (Pelc et al., 2008; Takaesu et al., 2012; Zhdanova et al., 1999). By contrast, relatively little is known about the role of the social environment (especially parent–child interactions), learning, and child characteristics (genotypic or behavioral) associated with the type and topography of sleep problems in children with AS. Whether sleep problems in such children are more common in early childhood, (i.e., between 2 and 6 years of age), with a reduction in late childhood to adolescence (Bruni et al., 2004; Clayton‐Smith, 2001) or persist throughout the life-course (Bruni et al., 2004; Didden, Korzilius, et al., 2004; Walz et al., 2005) is also unclear. Didden, Korzilius, et al. (2004) found no statistically significant association between severe sleep problems and the nature of the child’s epilepsy, intellectual functioning, child age, hyperactivity, and parent coping strategies.

The detrimental effects of chronic sleep deprivation among children with developmental disabilities and those with chronic health conditions, are well documented (Cohen et al., 2014 Hunter et al., 2020; Johnson et al., 2018; Mazzone et al., 2018), as are the impacts on parental mental health, sleep quality, quality of life, and family well-being (Johnson et al., 2018; McDougall et al., 2005; Turner & Johnson, 2013; Wiggs & France, 2000)., However, the collateral impacts of sleep problems on children with AS and their parents is greatly understudied. Poor sleep in children with AS is associated with higher rates of parental stress and poorer sleep quality (Didden, Korzilius, et al., 2004; Goldman et al., 2012). By contrast, sleep disturbances have been reported to have little impact on children’s daytime behavior, including levels of daytime fatigue (Pelc et al., 2008), supporting the hypothesis that the children with AS may have a diminished need for sleep (Pelc et al., 2008).

Both exogenous melatonin (Braam et al., 2008; Zhdanova et al., 1999) and parent-implemented behavioral interventions (e.g., extinction, modifications to the sleep/wake schedule, environmental modifications based on appropriate sleep hygiene practices; Allen et al., 2013; McLay et al., 2019; Montgomery et al., 2004; Summers et al., 1992) may be effective in the treatment of sleep problems in children with AS and parents are generally highly motivated to seek support for the management of their children’s sleep difficulties (McLay et al., 2020). However, parents will not necessarily select empirically supported interventions, be directed to them, or rate them as being effective (McLay et al., 2020). For example, in a survey of 244 parents of autistic children with sleep problems, McLay et al. (2020), found that parents’ treatment selection did not align with levels of empirical evidence of treatment efficacy (McLay & France, 2016), and parents perceived treatments both with (e.g., melatonin) and without (e.g., white noise, weighted blankets) empirical support as being effective. By contrast, empirically supported treatments (e.g., systematic ignoring and modified systematic ignoring) were often rated as relatively less effective.

The prevalence and unique features of sleep problems in children with AS, and parents’ roles as primary caregivers and potential change agents in this context warrant research that characterizes sleep problems and their impacts, parent help-seeking practices, and sources of support among such families. It is critical that we understand their perceptions of treatment and their help-seeking practices. A survey of parents’ perspectives of their child’s sleep problems and their help-seeking behavior enables us to address some of these research gaps. Owing to the rarity of AS, an internationally distributed survey enabled sufficient data to be collected. This survey aimed to enhance our understanding, with respect to children with AS, of parents’ perspectives on: 1) the type, topography and severity of children’s sleep problems; 2) the collateral child, parent, and family impacts of the sleep problems; 3) treatment selection practices and the perceived effectiveness of these treatments; and 4) sources of support and treatment advice received. Study findings aimed to provide a disability-specific profile of the type and impact of sleep problems experienced by children with AS, and inform the clinical services and support provided to parents of children with AS.

Method

Participants and recruitment

The survey, published in English, was initially distributed by the research team throughout Aotearoa New Zealand (NZ), Australia, the USA, and the United Kingdom via e-mail contact and social media pages of AS service providers and organizations. Following this initial distribution, the survey was spontaneously circulated to the wider international community via survey recipients. Of the initial 209 respondents, 139 met the following inclusion criteria: (a) they were the parent/caregiver of a child (0–21 years) with a clinical diagnosis of AS; and (b) their child experienced some form of sleep disturbance. A summary of demographic characteristics is provided in Table 1.

Table 1. Demographic characteristics of the sample.

Demographic data	N, Percentage of total sample
Parent age
18–24	2, 1.5%
25–34	32, 23.0%
35–44	69, 49.6%
45+	32, 23.2%
Did not report	4, 2.90%
Age of child
0–4	51, 40.0%
5–10	43, 31.2%
11–14	20, 14.5%
15–18	14, 10.1%
18+	8, 5.8%
Relationship to child
Mother	112, 81.2%
Father	25, 18.1%
Other	2, 1.5%
Ethnicity
European/Caucasian/Pakeha/White	98, 71.0%
Asian	7, 5.1%
Latino/Hispanic	7, 5.1%
Other	22, 15.9%
Did not report	5, 3.6%
Marital status
Married	122, 88.4%
Single, never married	4, 2.9%
Divorced or separated	12, 8.7%
Widowed	1. 0.7%
Household size
2–3	23, 16.5%
4–5	108, 77.7%
6+	7, 5.0%
Employment
Home maker	22, 15.8%
Employed for wages	87, 62.6%
Self-employed	10, 7.2%
Unemployed	16, 11.5%
Student	2, 1.5%
Did not report	2, 1.5%
Highest degree completed
Postgraduate	60, 43.1%
Undergraduate	37, 26.6%
Finished high school	39, 28.1%
Did not finish high school	3, 2.2%

Procedures

This study received university ethics approval from the host institution (HEC 2017–32-LR-PS). Participants were recruited from service providers and organizations for children with AS and the professional networks of the research team.

Survey instrument

All respondents completed the survey using Qualtrics™. The survey was adapted from an original survey, described in McLay et al. (2020), in consultation with the AS community. The adapted survey reflected the unique sleep problems reportedly experienced by children with AS (e.g., nighttime laughter), and sought information about the professional advice parents received. Questions were adapted, for example, in relation to ethnicity (e.g., inclusion of Māori for Aotearoa NZ respondents), income bands, terminology used to describe professional roles, and differences in spelling, to accommodate each target country (Aotearoa NZ, USA, Australia, UK). Otherwise, the substance of the questions asked was consistent across countries. Response options included 5-point Likert scale ratings (e.g., how would you rate the level of support you have received for your child’s sleep problem; 1 = no support, 3 = occasional/moderate levels of support, 5 = extensive support), selecting from a list of options (e.g., What if any aspects of your life does the sleep problem affect?), or a brief description or statement (e.g., please describe any of your child’s sleep problems not identified in the list above). Skip logic was applied to several questions to minimize respondent burden (e.g., parents would only be asked to respond to questions about the frequency or duration of the sleep problems that they identified).

The survey covered types of sleep problem and their frequency, duration, and timing; examples of sleep-interfering behaviors their child engaged in and whether their child was affected by any medical/physical conditions commonly associated with sleep problems; options describing possible impacts of sleep problems on the children across a variety of developmental domains; impacts of the sleep problems on the participating parent, their spouse, and their wider family (e.g., siblings); sources of information and help, details of advice they had received, treatments they had tried or were trying, and perceived effectiveness; and current medication the child was receiving to treat the sleep problem. Parents then rated the perceived effectiveness of these treatments (see Supplementary Materials S1 for a copy of the survey distributed in Aotearoa NZ). Treatments were derived from and later classified by the research team, according to their level of empirical support. Classifications of empirical support were based on evidence from systematic reviews and meta-analyses (e.g., Carnett et al., 2019; France et al., 2018; Hollway & Aman, 2011; McLay & France, 2016; Rigney et al., 2018; Rossignol & Frye, 2011; Turner & Johnson, 2013; Woodford et al., 2021). Supported techniques had sound empirical support for children with developmental disabilities, across multiple studies; those with some support had a sound theoretical basis and extant studies showing limited evidence of effects (e.g., research outcomes were methodologically compromised; there was minimal evidence of the replication of treatment effects across participants or disabilities; or outcomes were highly variable across participants); unsupported techniques lacked empirical evidence of effectiveness with children with developmental disabilities or the research methodologies substantially affected the conclusions about treatment effects that were able to be drawn. Details are in Table 2.

Table 2. Practices used by parents, ratings of effectiveness, and *level of empirical support in children with Angelman syndrome or other developmental disabilities and sleep disturbance.

	Used		Rated as effective		Resolved sleep problem
	n	% of total P	n	% of P used	N	% of P used
Supported
**Prescription medication	118	85	81	69	3	3
Systematic ignoring	100	72	19	19	1	1
Changing bedroom environment (e.g., removing toys, reducing noise)	90	65	36	40	1	1
Bedtime fading	82	59	33	40	2	2
Modified systematic ignoring	78	56	18	23	2	3
Scheduled awakening	38	27	10	26	1	3
CPAP	12	9	4	33	0	0
Some support
White noise	91	65	44	48	2	2
Social stories	65	47	12	18	1	2
Video modeling	38	27	5	13	1	3
Unsupported
Co-sleeping	104	75	70	67	1	1
Weighted blanket	71	51	27	38	0	0
Exercise	89	64	55	62	1	1
Homeopathic	67	48	21	31	0	0
Massage	65	47	25	37	0	0
Other
Surgery	17	12	5	29	1	6
Other – unspecified	11	8	5	45	1	9

CPAP – continuous positive airway pressure.

*Classifications of empirical support are based on evidence from systematic reviews and meta-analyses (e.g., Carnett et al., 2019; France et al., 2018; Hollway & Aman, 2011; McLay & France, 2016; Turner & Johnson, 2013). Supported techniques had sound empirical support; those with some support had a sound theoretical basis and extant studies showing limited evidence of effects; unsupported techniques lacked empirical evidence of effectiveness with children with developmental delays.

**Almost half were taking melatonin while a small number were taking CBD oil. Other medications reported for sleep treatment were clonidine, anti-convulsant medications, anti-depressants such as trazadone, and small numbers reported using antihistamines, and antipsychotic medications (e.g., risperidone).

P = participant/s.

Data analysis

Data were analyzed using the Statistical Package for Social Sciences™ (SPSS) version 25 and Jamovi version 19.6.10.

Results

Sleep problems

The type of parent-reported sleep problems, including sleep-related medical/physical problems is presented in Table 3.

Table 3. Parent-reported sleep problems and sleep-related medical problems.

Sleep problem	N	Percentage total sample
Insomnia	139	100
Frequent night wakings	98	71
Early morning wakings	87	63
Sleep onset delay	85	61
Prolonged night wakings	85	61
Co-sleeping – child’s bed	37	27
Co-sleeping – parent’s bed	32	23
Daytime sleepiness	11	8
Circadian rhythm disturbances	91	66
Fragmented sleep	47	34
Sleep phase disturbance	45	32
Biphasic sleep pattern	33	24
Delayed sleep phase	24	17
Advanced sleep phase	21	15
Polyphasic sleep pattern	14	10
Sleep-interfering behavior	54	39
Frequent bids for parental attention	37	27
Leaving bed	26	19
Playing with toys	26	19
Bedtime resistance	24	17
Repetitive motor movements	23	17
Crying or upset	22	16
Vocalizing to self	16	12
Non-compliance with the bedtime routine	16	12
Nighttime laughing	11	8
Other	19	14
Parasomnias	26	19
Teeth grinding	17	12
Night terrors/nightmares	7	5
Sleep talking	3	2
Sleep walking	2	1
Other	6	4
Other
Unexplained crying	24	17
Medical problems	97	70
Gastrointestinal problems	52	37
Seizure disorder	45	32
Unusual nighttime movements (unexplained, while asleep)	37	27
Bedwetting	37	27
Identified problems with endogenous melatonin	35	25
Sleep-related breathing problems (e.g., OSA)	13	9
Eczema	13	9
Asthma	7	5
Other (unspecified)	13	9

OSA – Obstructive sleep apnea.

The average number of separate sleep problems reported by individual respondents was 4.5 (range of 1–11 separate problems). The most frequent category of sleep problems identified was insomnias (difficultly initiating and maintaining sleep) and included sleep onset delay, co-sleeping (in child’s or parents’ bed) frequent and prolonged night waking, and early waking. Less frequently reported under this category was day-time sleepiness. Circadian rhythm disorders, such as sleep phase disorders and fragmented sleep was a category which also affected a majority of participants. Sleep interfering behavior affected a sizable minority of participants and ranged from noncompliance, various kinds of bed-time resistance (e.g., bids for parental attention, bed-time refusal, and crying) to competing activities such as playing with toys through to vocal and motor stereotypies. Fewer children were identified as experiencing phenomena classified as parasomnias, such as nightmares, sleep walking/talking, night terrors, or tooth-grinding. Over two-thirds of children were described as experiencing medical/physical problems likely to adversely affect sleep such as asthma or obstructive breathing, seizures, bed-wetting, gastrointestinal disorders, eczema, medically identified problems with endogenous melatonin, and rhythmic movement disorders. An examination of the data by age revealed few differences. Frequent and lengthy night wakings, accompanied by early wakings dominated presentations across the age ranges.

Parental concern, importance to treat and impact on child and family

Table 4 presents data on parent reported levels of concern about their child’s sleep problem and ratings of importance to treat. The impact of the sleep problem on children and their family is also reported.

Table 4. Parental concern, importance to treat, and child and family impacts of sleep problems.

	N	Percentage of sample
Parental levels of concern
Most significant	25	19
Very concerned	51	38
Somewhat Concerned	44	33
Mildly concerned	13	10
Not concerned	1	75
Important to treat
My primary focus	42	30
Very Important	59	42
Somewhat important	23	17
Mildly important	7	5
Impact on child
Daytime behavior-home	75	51
Daytime behavior school	67	48
Learning	58	42
Emotional regulation	57	41
Communication	38	27
Social interaction	36	26
Relationships	13	9
Impact on family
Parent sleep	111	80
Spouse sleep	75	54
Parental daytime functioning	93	67
Parental mental health	89	64
Parental employment	69	50
Spousal relationship	70	50
Physical wellbeing	66	47
Sibling sleep	44	32
Sibling relationship	37	27
Financial security	12	9

The vast majority of parents rated the sleep problems as their most significant concern or rated themselves as very or somewhat concerned. Few reported being “mildly” or “not concerned”. Relatedly, the majority of participants rated the sleep problem ‘as my primary focus ‘or “very important to treat” with few rating treatment as less important. The number of different sleep problems was significantly correlated with parent-rated levels of concern (r = .38, p < .001). However, there was no significant correlation between child age and parent concern about sleep problems (r = .06, p > .05).

Effects on the child reported by approximately half of the parents surveyed were daytime behavior at home and school, their child’s learning, emotional regulation, and to a lesser extent, their communication and social interaction. A small number also reported an impact on their relationships with others.

A large number of participants reported that their child’s sleep problems impacted their personal sleep and that of their spouse, their daytime functioning and mental health, their employment, spousal relationship and physical well-being. Fewer reported effects on siblings’ sleep and relationships and a small number cited impacts on financial security.

Support and advice

Table 5 presents data on the source of professional support and ratings of the quality of this support, as well as professional advice that was reported. The frequency of parent-initiated engagement with other sources of information about their child’s sleep is also reported.

Table 5. Sources of information and support about child’s sleep problems, advice received, and quality of support.

	N	Percentage of sample
Professional support	88	63
Medical professional	77	55
Psychologist	11	8
Occupational therapist	10	8
Board certified behavior analyst	11	8
Speech language pathologist	2	1
Researcher	4	3
Physical therapist	2	1
Quality of support
Suitable or extensive/regular support	28	20
Little or occasional support	82	59
No support	22	14
Professional advice reported
Feature of AS	61	44
Use medication	27	19
Treatment required	7	5
Children can learn to improve sleep	7	5
Sleep problem will respond to environmental modifications	3	2
Sleep problem likely to resolve without treatment	3	2
Other parent-initiated resources	68	49
Web-based supports	35	25
Other parents	30	22
Books	17	5
Other	18	13

Only a minority of respondents felt that they had received “suitable or extensive/regular levels of support”, over half indicated that they had received “little or occasional support” and the rest reported receiving “no support”.

Most parents sourced support from professionals, particularly medical professionals. Eight percent or fewer parents reported receiving support from other professionals or professional sources, such as an occupational therapist or psychologist. Advice reported from professionals largely focussed on sleep problems being an unavoidable feature of AS and advocating the use of medication. Few parents received advice relating to learning and environmental change, which are the key features of empirically supported behavioral treatments.

About half of respondents had accessed web-based sources or other parents for help. A minority of parents reported receiving support from other unspecified sources. A total of 14% of respondents reported that they had received no professional support for their child’s sleep problem

Interventions for sleep problems

The majority of respondents reported receiving help for their child’s sleep problem and over two-thirds received medication (see Table 2). The 139 respondents had tried an average of nine different treatments. The most commonly tried supported treatment was prescription medication. This included melatonin (n = 60, 43%) and clonidine (n = 18, 13%). All other medications were used by less than 6% of respondents (e.g., trazadone, risperidol, phenergan). Other supported treatments reported by over half of parents included systematic ignoring, changing the bedroom environment, modified systematic ignoring, and weighted blankets. Just over one quarter of parents reported trying scheduled awakenings. Another treatment reported by a small number of parents was Continuous Positive Airway Pressure (CPAP), however this is not a treatment primarily for behavioral sleep problems and instead is an intervention employed only when medically necessary. Popular treatments with some empirical support were white noise, and social stories, while fewer had tried video modeling. Almost half of parents reported trying unsupported treatments specifically, homeopathy, massage, exercise, and co-sleeping/bed-sharing. Few children had undergone surgical procedures (e.g., tonsillectomy).

There was little relationship between parent-reported effectiveness and level of empirical support. Thirty-seven percent of users rated supported treatments effective or resolving of the problem compared with 29% of treatments with some support and 47% of unsupported treatments. The treatment approaches that were rated as most effective included co-sleeping, prescription medication, exercise, and modifications to the child’s bed (see Table 2).

Discussion

Despite the high prevalence of sleep disturbance in children with AS, remarkably little is known about the characteristics, impact, and treatment of these problems. This comprehensive, multi-country study examined the type, topography, severity and impact of sleep problems in children with AS, parents’ help-seeking practices, treatments tried, and perceptions of effectiveness, as well as sources of support and advice received.

Parents of children with AS reported a large number and range of sleep problems, particularly insomnias and circadian rhythm disturbances. A number of parents reported medical/physical problems affecting their child’s sleep, but few reported daytime sleepiness, providing some support for the belief that children with AS may have a diminished need for sleep (Pelc et al., 2008). These data highlight the prevalence and complexity of sleep problems in children with AS.

Sleep problems had adverse secondary effects on both the child and their family. This is well established in autism (Abel et al., 2018; Hodge et al., 2013; Hunter et al., 2020; Mazurek & Petroski, 2015; Mazurek & Sohl, 2016) but this is the only known study that has examined the sequelae of sleep problems among children with AS and their parents, and is one of few studies generally to have identified the collateral impact of sleep problems on siblings. The stress of caring for a child with developmental and medical complexities, along with other features of AS, such as high rates of enuresis and behavioral challenges is highly likely to negatively affect parents’ sleep and wellbeing.

The majority of parents reported both high levels of concern about their child’s sleep problem, and a belief that it was important to treat such problems, but only one in five parents felt that they had either received suitable or regular support. Support was mostly from medical professionals, and almost half of parents drew upon informal or unregulated sources. This meant parents scarcely received any support from those professionals, such as psychologists and other experts in behavioral treatments, best positioned to help change behavioral sleep problems. Furthermore, few parents were advised that the sleep problem could be treated through the learning and environmental modifications characteristic of empirically supported behavioral treatments. This is in spite of the fact that behavioral interventions, such as sleep hygiene modifications are widely recommended as the first line of treatment for childhood sleep problems (Malow et al., 2012).

The majority of respondents indicated that their child was receiving medication to treat the child’s sleep problem; most commonly, melatonin, which was used by almost half of respondents. While prior studies have reported that parents were most commonly provided with pharmacological treatments, the frequency in the current study is much higher than the 24%–35% reported by Didden, Korzilius, et al. (2004) and Walz et al. (2005). These differences may reflect a general international increase in melatonin use over the past decade (Efron et al., 2017; Kimland et al., 2020). Likewise, much higher rates of use of behavioral intervention were reported in our study (56–72%) compared to only 6% in Didden, Korzilius, et al. (2004). More rated these as effective in Didden, Korzilius, et al. (2004; 43%) compared to 20–25% who rated extinction and modified extinction as effective in this study. Given few psychologists and other behavioral experts were consulted in relation to sleep problems, the quality of these behavioral programs is difficult to ascertain. This may explain the low rating of effectiveness of behavioral strategies, such as systematic or modified systematic ignoring, which require expert support and guidance to implement correctly. Parents surveyed reported trying a large number of other treatments, ranging from those that are well-established to those with little to no empirical support, with almost equal frequency. Moreover, as in research with autistic children (McLay et al., 2020), ratings of effectiveness were not associated with levels of empirical support. It is noteworthy that, of the few parents who had used CPAP, only approximately one-quarter rated it as effective in treating their child’s sleep problems. This may reflect a persistence of behaviorally based sleep problems in spite of the management of sleep-related breathing problems, or may be the result of incorrect use or non-adherence to CPAP.

The findings of this study are comparable, in rates and types of sleep problems, and in the high number of treatment strategies tried, to Carnett et al. (2021) and McLay et al. (2020) which report on findings of a similar survey administered among parents of autistic children (n = 244). As with the parents of autistic children, parents had typically sought support from medical professionals. The most notable difference was that parents of autistic children were more likely to have also received support from a psychologist or advice from books. This may reflect the fact that, by virtue of the rarity of AS, psychologists may have less experience working with this group of children.

The medical complexity and genetic etiology of AS, may mean that these children have a biological propensity for poor sleep and/or that sleep problems among children with AS are less amenable to sleep intervention. Likewise, findings suggest that parents may not be adequately supported to implement empirically based interventions effectively, especially given the relative complexity of these procedures in addition to the complexity of AS. Study findings suggest that sleep problems in children with AS should be comprehensively assessed to determine possible factors contributing to sleep problems. This is largely consistent with the findings of Agar et al. (2021) which suggests that sleep-related breathing difficulties, insomnia, excessive daytime sleepiness, enuresis, and bruxism should be considered as part of either routine or priority assessment for children with AS.

Furthermore, given the high prevalence and variance in types of sleep problems, treatment formulation must consider both medical and behavioral interventions that directly target the sleep problem, as well as co-occurring medical conditions (e.g., gastrointestinal problems, seizure disorders, and sleep disordered breathing) that may be interfering with children’s sleep. In some cases, parents of children with AS may also benefit from psychoeducation about empirically supported alternatives or adjuncts to pharmacological interventions and potential sources of professional support, in addition to support provided by medical professionals. These findings also highlight the need to provide further training for professionals responsible for providing support for parents of children with AS.

This study is not without limitations. Considering the rarity of AS, the sample size is relatively robust. However, the use of snowball sampling does not allow the rate of response to be calculated. Furthermore, while this is an international survey, the respondents were largely demographically homogenous. These issues may mean that it is unlikely that the responses are generalizable to all parents of children with AS, particularly those of minority demographic groups. Another limitation of this study is that the sleep problems reported, associated collateral impacts, treatment integrity and effects, were not determined using standardized, validated, objective, or third-party sleep measures, and were based exclusively on parent report. Finally, the limited number of respondents per country did not allow for cross-country data comparison.

In light of the findings of this study, and its limitations, there are a number of avenues for future research. The key focus for such research is the gap between need for and availability of effective interventions delivered by appropriate professionals. The foundation for this is further research investigating the effectiveness and social acceptability of behavioral sleep interventions for children with AS. Research into the educational curricula and training needs of professionals would also align with this agenda. Future research should also focus on enhancing our understanding of parents’ decision-making practices; in particular, their reasons for treatment selection and how they may be helped to select treatments that are likely to be effective for their child and to implement these appropriately. Finally, and in light of the limitations of the current study, future investigations into sleep problems would benefit from the inclusion of objective sleep assessment.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

The work was supported by the The Angelman Network .