Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Journal of Neurodevelopmental Disorders
Published in: Journal of Neurodevelopmental Disorders 1/2018

Open Access 01-12-2018 | Research

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

Authors: J. Trickett, M. Heald, C. Oliver, C. Richards

Published in: Journal of Neurodevelopmental Disorders | Issue 1/2018

Login to get access

Abstract

Background

Sleep 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.

Methods

The 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.

Results

Children 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.

Conclusions

These 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.
Appendix
Available only for authorised users
Literature
1.
Tietze AL, Blankenburg M, Hechler T, Michel E, Koh M, Schluter B, Zernikow B. Sleep disturbances in children with multiple disabilities. Sleep Med Rev. 2012;16:117–27.CrossRefPubMed
2.
Didden R, Korzilius H, van Aperlo B, van Overloop C, de Vries M. Sleep problems and daytime problem behaviours in children with intellectual disability. J Intellect Disabil Res. 2002;46:537–47.CrossRefPubMed
3.
Rzepecka H, McKenzie K, McClure I, Murphy S. Sleep, anxiety and challenging behaviour in children with intellectual disability and/or autism spectrum disorder. Res Dev Disabil. 2011;32:2758–66.CrossRefPubMed
4.
Miano S, Giannotti F, Cortesi F. Sleep disorders and autism spectrum disorder. In: Mazzone L, Vitiello B, editors. Psychiatric symptoms and comorbidities in autism spectrum disorder. Switzerland: Springer International Publishing; 2016. p. 111–28.CrossRef
5.
Hunt A, Stores G. Sleep Disorder and epilepsy in children with tuberous sclerosis: a questionnaire-based study. Dev Med Child Neurol. 1994;36:108–15.CrossRefPubMed
6.
Hodapp RM. Direct and indirect behavioral effects of different genetic disorders of mental retardation. Am J Ment Retard. 1997;102:67–79.CrossRefPubMed
7.
8.
Hodapp RM, Dykens EM. Strengthening behavioral research on genetic mental retardation syndromes. Am J Ment Retard. 2001;106:4–15.CrossRefPubMed
9.
Stores G. Sleep and its disorders in children and adolescents with a neurodevelopmental disorder: a review and clinical guide: Cambridge University Press; 2014.
10.
De Leersnyder H, de Blois M-C, Claustrat B, Romana S, Albrecht U, von Kleist-Retzow J-C, Delobel B, Viot G, Lyonnet S, Vekemans M, Munnich A. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr. 2001;139:111–6.CrossRefPubMed
11.
Bruni O, Ferri R, Agostino G, Miano S, Roccella M, Elia M. Sleep disturbances in Angelman syndrome: a questionnaire study. Brain Dev. 2004;26:233–40.CrossRefPubMed
12.
Simonds JF, Parraga H. Prevalence of sleep disorders and sleep behaviors in children and adolescents. J Am Acad Child Adolesc Psychiatry. 1982;21:383–8.CrossRef
13.
Bruni O, Cortesi F, Fau GF, Curatolo P, Curatolo P. Sleep disorders in tuberous sclerosis: a polysomnographic study. Brain Dev. 1995;17(1):52–6.CrossRefPubMed
14.
Hodge D, Carollo TM, Lewin M, Hoffman CD, Sweeney DP. Sleep patterns in children with and without autism spectrum disorders: developmental comparisons. Res Dev Disabil. 2014;35:1631–8.CrossRefPubMed
15.
Batista BHB, Nunes ML. Evaluation of sleep habits in children with epilepsy. Epilepsy Behav. 2007;11:60–4.CrossRefPubMed
16.
Noronha AC, de Bruin VMS, e Souza MÂN, de Freitas MR, de Paula Araújo R, Mota RMS, de Bruin PFC. Gastroesophageal reflux and obstructive sleep apnea in childhood. Int J Pediatr Otorhinolaryngol 2009; 73:383-389.
17.
18.
Conant KD, Thibert R, Fau-Thiele EA, Thiele EA. Epilepsy and the sleep-wake patterns found in Angelman syndrome. Epilepsia. 2009;50:2497–500.CrossRefPubMed
19.
Thibert RL, Conant KD, Braun EK, Bruno P, Said RR, Nespeca MP, Thiele EA. Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. Epilepsia. 2009;50:2369–76.CrossRefPubMed
20.
Walz NC, Beebe D, Byars K. Sleep in individuals with Angelman syndrome: parent perceptions of patterns and problems. American Journal Ment Retard. 2005;110:243–52.CrossRef
21.
Didden R, Korzilius H, Smits MG, LMG C. Sleep problems in individuals with Angelman syndrome. Am J Ment Retard. 2004;109:275–84.CrossRefPubMed
22.
Joinson C, O'Callaghan FJ, Osborne JP, Martyn C, Harris T, Bolton PF. Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex. Psychol Med. 2003;33:335–44.CrossRefPubMed
23.
van Eeghen AM, Numis AI, Staley BA, Therrien SE, Thibert RL, Thiele EA. Characterizing sleep disorders of adults with tuberous sclerosis complex: a questionnaire-based study and review. Epilepsy Behav. 2011;20:68–74.CrossRefPubMed
24.
Goldman AM, Potocki L, Walz K, Lynch JK, Glaze DG, Lupski JR, Noebels JL. Epilepsy and chromosomal rearrangements in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. J Child Neurol. 2006;21:93–8.CrossRefPubMed
25.
26.
27.
28.
Northrup H, Krueger DA. International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol. 2013;49:243–54.CrossRefPubMedPubMedCentral
29.
Potocki L, Shaw CJ, Stankiewicz P, Lupski JR. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med. 2003;5:430–4.CrossRefPubMed
30.
Schieve LA, Gonzalez V, Boulet SL, Visser SN, Rice CE, Braun KVN, Boyle CA. Concurrent medical conditions and health care use and needs among children with learning and behavioral developmental disabilities, National Health Interview Survey, 2006–2010. Res Dev Disabil. 2012;33:467–76.CrossRefPubMed
31.
Breau LM, Camfield CS. Pain disrupts sleep in children and youth with intellectual and developmental disabilities. Res Dev Disabil. 2011;32:2829–40.CrossRefPubMed
32.
Aldinger KA, Lane CJ, Veenstra-Vander Weele J, Levitt P. Patterns of risk for multiple co-occurring medical conditions replicate across distinct cohorts of children with autism spectrum disorder. Autism Res. 2015;8:771–81.CrossRefPubMedPubMedCentral
33.
Tudor ME, Walsh CE, Mulder EC, Lerner MD. Pain as a predictor of sleep problems in youth with autism spectrum disorders. Autism. 2015;19(3):292–300.CrossRefPubMed
34.
Marcus CL, Brooks LJ, Ward SD, Draper KA, Gozal D, Halbower AC, Jones J, Lehmann C, Schechter MS, Sheldon S. Diagnosis and management of childhood obstructive sleep apnea syndrome. Pediatrics. 2012;130:e714–55.CrossRefPubMed
35.
Blackmer AB, Feinstein JA. Management of sleep disorders in children with neurodevelopmental disorders: a review. Pharmacotherapy. 2016;36:84–98.CrossRefPubMed
36.
Welham A, Lau JKL, Moss J, Cullen J, Higgs S, Warren G, Wilde L, Marr A, Cook F, Oliver C. Are Angelman and Prader-Willi syndromes more similar than we thought? Food-related behavior problems in Angelman, Cornelia de Lange, fragile X, Prader-Willi and 1p36 deletion syndromes. Am J Med Genet Part A. 2015;167:572–8.CrossRef
37.
Gozal D, Kheirandish-Gozal L. Obesity and excessive daytime sleepiness in prepubertal children with obstructive sleep apnea. Pediatrics. 2009;123:13–8.CrossRefPubMed
38.
Chervin RD, Archbold KH, Dillon JE, Panahi P, Pituch KJ, Dahl RE, Guilleminault C. Inattention, hyperactivity, and symptoms of sleep-disordered breathing. Pediatrics. 2002;109:449–56.CrossRefPubMed
39.
Golan N, Shahar E, Ravid S, Pillar G. Sleep disorders and daytime sleepiness in children with attention-deficit/hyperactive disorder. Sleep. 2004;27:261–6.CrossRefPubMed
40.
Melendres CS, Lutz JM, Rubin ED, Marcus CL. Daytime sleepiness and hyperactivity in children with suspected sleep-disordered breathing. Pediatrics. 2004;114:768.CrossRefPubMed
41.
Kopp CMC, Muzykewicz DA, Staley BA, Thiele EA, Pulsifer MB. Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav. 2008;13:505–10.CrossRefPubMed
42.
Spruyt K, O'brien LM, Cluydts R, Verleye GB, Ferri R. Odds, prevalence and predictors of sleep problems in school-age normal children. J Sleep Res. 2005;14:163–76.CrossRefPubMed
43.
Pollock JI. Night-waking at five years of age: predictors and prognosis. J Child Psychol Psychiatry. 1994;35:699–708.CrossRefPubMed
44.
Clayton-Smith J. Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Am J Med Genet. 1993;46:12–5.CrossRefPubMed
45.
Smith A, Wiles C Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ. Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. J Med Genet 1996; 33,2:107-112.
46.
Smith AC, Dykens E, Greenberg F. Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). Am J Med Genet. 1998;81:186–91.CrossRefPubMed
47.
Humphreys JS, Gringras P, Blair PS, Scott N, Henderson J, Fleming PJ, Sleep EAM. Patterns in children with autistic spectrum disorders: a prospective cohort study. Arch Dis Child. 2014;99:114–8.CrossRefPubMed
48.
Quine L. Sleep problems in children with mental handicap. J Intellect Disabil Res. 1991;35:269–90.CrossRef
49.
Kushlick A, Blunden R, Cox G. A method of rating behaviour characteristics for use in large scale surveys of mental handicap. Psychol Med. 1973;3:466–78.CrossRefPubMed
50.
Hall SS, Arron K, Sloneem J, Oliver C. Health and sleep problems in Cornelia de Lange syndrome: a case control study. J Intellect Disabil Res. 2008;52:458–68.CrossRefPubMed
51.
Burbidge C, Oliver C: The activity questionnaire. Manual for administration and score interpretation. University of Birmingham, Birmingham 2008.
52.
Burbidge C, Oliver C, Moss J, Arron K, Berg K, Furniss F, Hill L, Trusler K, Woodcock K. The association between repetitive behaviours, impulsivity and hyperactivity in people with intellectual disability. J Intellect Disabil Res. 2010;54:1078–92.CrossRefPubMed
53.
Johnson CR, Turner KS, Foldes EL, Malow BA, Wiggs L. Comparison of sleep questionnaires in the assessment of sleep disturbances in children with autism spectrum disorders. Sleep Med. 2012;13:795–801.CrossRefPubMedPubMedCentral
54.
Wiggs L, Stores G. Behavioural treatment for sleep problems in children with severe learning disabilities and challenging daytime behaviour: effect on daytime behaviour. J Child Psychol Psychiatry. 1999;40:627–35.CrossRefPubMed
55.
Maas AP, Didden R, Korzilius H, Braam W, Collin P, Smits MG, Curfs LM. Psychometric properties of a sleep questionnaire for use in individuals with intellectual disabilities. Res Dev Disabil. 2011;32:2467–79.CrossRefPubMed
56.
Royal College of Paeditricians and Child Health. Childhood and Puberty Close Monitoring (CPCM) chart. 2013.
57.
Oliver C, Wilkie L. Gastro-oesophageal Distress Questionnaire. Birmingham: University of Birmingham; 2005.
58.
Cohen J, Statistical power analysis for the behavioral sciences (2nd ed.). Hillsdale, NJ: Lawrence Earlbaum Associates; 1988.
59.
Durlak JA. How to select, calculate, and interpret effect sizes. J Pedatr Psychol. 2009;34(9):917–28.CrossRef
60.
Miodrag N, Peters S. Parent stress across molecular subtypes of children with Angelman syndrome. J Intellect Disabil Res. 2015;59:816–26.CrossRefPubMed
61.
Varela MC, Kok F, Otto PA, Koiffmann CP. Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. Eur J Hum Genet. 2004;12:987.CrossRefPubMed
62.
Taylor MA, Schreck KA, Mulick JA. Sleep disruption as a correlate to cognitive and adaptive behavior problems in autism spectrum disorders. Res Dev Disabil. 2012;33:1408–17.CrossRefPubMed
63.
McCue LM, Flick LH, Twyman KA, Xian H. Gastrointestinal dysfunctions as a risk factor for sleep disorders in children with idiopathic autism spectrum disorder: a retrospective cohort study. Autism 2017:1362361316667061.
64.
Fujiwara Y, Arakawa T, Fass R. Gastroesophageal reflux disease and sleep disturbances. J Gastroenterol. 2012;47:760–9.CrossRefPubMed
65.
Oliver C, Wilde L, Eden K. Pain in children with severe intellectual disability: a guide for parents. 2015.
66.
Allanson JE, Greenberg F, Smith ACM. The face of Smith-Magenis syndrome: a subjective and objective study. Journal Med Genet. 1999;36:394–7.
67.
68.
Metadata
Title
A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex
Authors
J. Trickett
M. Heald
C. Oliver
C. Richards
Publication date
01-12-2018
Publisher
BioMed Central
Published in
Journal of Neurodevelopmental Disorders / Issue 1/2018
Print ISSN: 1866-1947
Electronic ISSN: 1866-1955
DOI
https://doi.org/10.1186/s11689-018-9226-0

Other articles of this Issue 1/2018

Journal of Neurodevelopmental Disorders 1/2018 Go to the issue

Review

Imaging episodic memory during development and childhood epilepsy

Research

Emotional prosodic change detection in autism Spectrum disorder: an electrophysiological investigation in children and adults

Research

Development of fine motor skills is associated with expressive language outcomes in infants at high and low risk for autism spectrum disorder

Research

Face processing in 22q11.2 deletion syndrome: atypical development and visual scanning alterations

Research

Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism

Research

Neurophysiological correlates of holistic face processing in adolescents with and without autism spectrum disorder