A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex

Abstract

BackgroundSleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies. In this study, a standardised questionnaire was administered across groups affording comparison of the prevalence and profile of sleep disturbance between groups and contrast to chronologically age-matched typically developing (TD) peers.MethodsThe modified version of Simonds and Parraga’s sleep questionnaire, adapted for use in children with intellectual disabilities, was employed to assess sleep disturbance profiles in children aged 2–15 years with SMS (n = 26), AS (n = 70), ASD (n = 30), TSC (n = 20) and a TD contrast group (n = 47). Associations between sleep disturbance and age, obesity, health conditions and overactivity/impulsivity were explored for each neurodevelopmental disorder group.ResultsChildren with SMS displayed severe night waking (81%) and early morning waking (73%). In contrast, children with ASD experienced difficulties with sleep onset (30%) and sleep maintenance (43%). Fewer children with ASD (43%) and AS (46%) experienced severe night waking compared to children with SMS (both p < .01). Higher sleep-disordered breathing scores were identified for children with SMS (p < .001) and AS (p < .001) compared to the TD group. Sleep disturbance in children with AS and TSC was associated with poorer health. Children experiencing symptoms indicative of gastro-oesophageal reflux had significantly higher sleep-disordered breathing scores in the AS, SMS and ASD groups (all p < .01). A number of associations between overactivity, impulsivity, gastro-oesophageal reflux, age and sleep disturbance were found for certain groups.ConclusionsThese data reveal syndrome-specific profiles of sleep disturbance. The divergent associations between sleep parameters and person characteristics, specifically symptoms of gastro-oesophageal reflux, overactivity and impulsivity and age, implicate aetiology-specific mechanisms underpinning sleep disturbance. The differences in prevalence, severity and mechanisms implicated in sleep disturbance between groups support a syndrome-sensitive approach to assessment and treatment of sleep disturbance in children with neurodevelopmental disorders.Electronic supplementary materialThe online version of this article (10.1186/s11689-018-9226-0) contains supplementary material, which is available to authorized users.

Sleep in children with neurodevelopmental difficulties

“…Anxiety disorder alone was not associated with these parameters in a recent paper in a peri-pubertal population. 11 This is consistent with clinical practice: children who are fearful often have more difficulty initiating sleep and can stay awake for long periods at night. 12 The assessment of trauma and fear in children with disabilities is challenging but may be necessary as children who have experienced domestic violence or abusive situations can find settling to sleep challenging.…”

“…A child's vigilance and attention to threat are also associated with longer sleep latency and reduced sleep maintenance. Anxiety disorder alone was not associated with these parameters in a recent paper in a peri‐pubertal population . This is consistent with clinical practice: children who are fearful often have more difficulty initiating sleep and can stay awake for long periods at night .…”

“…Sleep EEGs demonstrate less and shorter spindle formation and greater coherence across spectra . Sleep disturbance can be associated with poorer health, and management of sleep is the second parental priority for therapeutic interventions after control of epilepsy (D. Adams, in preparation, 2018). Sleep hygiene and behavioural interventions that acknowledge the AS phenotype of reward via facial response – that is, treating waking with ignoring unless distressed – is effective .…”

“…Sleep hygiene and behavioural interventions that acknowledge the AS phenotype of reward via facial responsethat is, treating waking with ignoring unless distressedis effective. 11 However, for many, medications such as promethazine or trimeprazine may be required. Melatonin is rarely effective for night waking.…”

A clinical update on tuberous sclerosis complex‐associated neuropsychiatric disorders (TAND)

“…The lower estimates in Table 2 are of specific topographies of sleep disorder (settling and early morning waking; rates of night waking were much higher at 45%), the higher rate is from a study that asked a broader question about sleep problems in general. Carer reports of night waking problems (Hunt & Stores, 1994;Trickett et al, 2018) are supported by direct polysomnography assessment in children with TSC, which found shorter total sleep duration (Bruni, Cortesi, Giannotti, & Curatolo, 1995). Other sleep behavior problems include daytime sleepiness, parasomnias, and increased rates of co-sleeping (Trickett et al, 2018).…”