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DOI: 10.1590/0004-282X-ANP-2021-0242
Sleep disorders in Down syndrome: a systematic review
Distúrbios do sono na síndrome de Down: revisão sistemática
ABSTRACT
Background: Sleep disorders are commonly observed in children with Down syndrome (DS) and can lead to significant behavioral and cognitive morbidities in these individuals. Objective: To perform a systematic review evaluating sleep disorders in individuals with DS. Methods: Search strategies were based on combinations of keywords: “Down syndrome”; “trisomy 21”; “sleep disorders”; “dyssomnias”; “sleep apnea”; “obstructive”; “sleeplessness”; “insomnia”; “parasomnias”; and “excessive daytime sleepiness”. PubMed and Science Direct were used. Only original studies and retrospective reviews in English published between January 2011 and March 2021 were included. Results: 52 articles were included, most of them involving children and adolescents under 18 years of age. The main sleep disorder associated with DS was obstructive sleep apnea (OSA). Some studies reported the presence of cognitive dysfunction in patients with DS and sleep-disordered breathing, and few have been found about parasomnia, insomnia, and daytime sleepiness in these patients. Movement disorders and unusual postures during sleep may be related to disordered sleep breathing in DS. The main treatment options for OSA are continuous positive airway pressure therapy (CPAP), surgery, and weight control. Computational modeling associated with MRI has been used to plan surgical interventions in these patients. Conclusions: Individuals with DS are at high risk of developing sleep-related breathing disorders. The main sleep disorder associated with DS was OSA. The presence of sleep-disordered breathing contributes to a worsening of cognitive function in patients with DS.
RESUMO
Antecedentes: Os distúrbios do sono são comumente observados em crianças com síndrome de Down (SD) e podem levar a morbidades comportamentais e cognitivas significativas nesses indivíduos. Objetivo: Realizar uma revisão sistemática para avaliar os distúrbios do sono em indivíduos com SD. Métodos: As estratégias de busca foram baseadas em combinações de palavras-chave: “Síndrome de Down”; “trissomia 21”; “distúrbios do sono”; “dissonias”; “apneia do sono”; “obstrutivo”; “insônia”; “insônia”; “parassonias” e “sonolência diurna excessiva”. PubMed e Science Direct foram usados. Apenas estudos originais e revisão retrospectiva de prontuários escritos em inglês e publicados de janeiro de 2011 a março de 2021 foram incluídos. Resultados: Foram selecionados 52 artigos, a maioria com crianças e adolescentes menores de 18 anos. O principal distúrbio do sono associado à SD foi a apneia obstrutiva do sono (AOS). Alguns estudos relatam a presença de disfunção cognitiva em pacientes com SD e distúrbios respiratórios do sono, e poucos foram encontrados sobre parassonia, insônia e sonolência diurna nesses pacientes. Distúrbios do movimento e posturas incomuns durante o sono podem estar relacionados ao distúrbio respiratório do sono na SD. As principais opções de tratamento para AOS são pressão positiva contínua nas vias aéreas (CPAP), abordagem cirúrgica e controle de peso. A modelagem computacional associada à ressonância magnética tem sido usada para planejar intervenções cirúrgicas nesses pacientes. Conclusões: Indivíduos com SD apresentam alto risco de desenvolver distúrbios respiratórios relacionados ao sono. O principal distúrbio do sono associado à SD foi a AOS. A presença de distúrbios respiratórios do sono contribui para a piora das funções cognitivas em pacientes com SD.
Authors’ contributions:
RAS, LHC, RCL: served as scientific advisors, collected data, and participated in the writing or technical editing of the manuscript; MPH: served as scientific advisor and critically reviewed the study proposal; FMSC, GPO: served as scientific advisors, critically reviewed the study proposal, and participated in the writing or technical editing of the manuscript.
Publication History
Received: 22 June 2021
Accepted: 05 August 2021
Article published online:
06 February 2023
© 2022. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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References
- 1 Down JL. Observations on an ethnic classification of idiots. 1866. Ment Retard 1995; Feb; 33 (01) 54-56
- 2 Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE. et al. Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol 2010; Dec; 88 (12) 1008-1016 https://doi.org/10.1002/bdra.20735
- 3 Presson AP, Partyka G, Jensen KM, Devine OJ, Rasmussen SA, McCabe LL. et al. Current estimate of Down Syndrome population prevalence in the United States. J Pediatr 2013; Oct; 163 (04) 1163-1168 https://doi.org/10.1016/j.jpeds.2013.06.013
- 4 Roizen NJ, Patterson D. Down's syndrome. Lancet (London, England) 2003; Jul;361(9365) 1281-1289 https://doi.org/10.1016/S0140-6736(03)13825-1
- 5 Schieve LA, Boulet SL, Boyle C, Rasmussen SA, Schendel D. Health of children 3 to 17 years of age with Down syndrome in the 1997-2005 national health interview survey. Pediatrics 2009; Feb; 123 (02) e253-e260 https://doi.org/10.1542/peds.2008-1440
- 6 Bull MJ. Health supervision for children with Down syndrome. Pediatrics 2011; Aug; 128 (02) 393-406 https://doi.org/10.1542/peds.2011
- 7 Shott SR. Down syndrome: Common otolaryngologic manifestations. Am J Med Genet Part C Semin Med Genet 2006; Aug; 142C (03) 131-140 https://doi.org/10.1002/ajmg.c.30095
- 8 Amihăesei IC, Mungiu OC. Main neuroendocrine features and therapy in primary sleep troubles. Rev Med Chir Soc Med Nat Iasi. 2012 116. 03
- 9 Carter JC, Wrede JE. Overview of sleep and sleep disorders in infancy and childhood. Pediatr Ann 2017; Apr; 46 (04) e133-e138 https://doi.org/10.3928/19382359-20170316-02
- 10 American Academy of Pediatrics. Clinical practice guideline: diagnosis and management of childhood obstructive sleep apnea syndrome. Pediatrics 2002; Apr; 109 (04) 704-712 https://doi.org/10.1542/peds.109.4.704
- 11 Fallone G, Owens JA, Deane J. Sleepiness in children and adolescents: clinical implications. Sleep Med Rev 2002; Aug; 6 (04) 287-306 https://doi.org/10.1053/smrv.2001.0192
- 12 Wiggs L SG. Sleep Disturbance in Children and Adolescents with Disorders of Development: Its Significance and Management. Oxford: Cambridge University Press; 2001
- 13 Lee CF, Lee CH, Hsueh WY, Lin MT, Kang KT. Prevalence of Obstructive Sleep apnea in children with down syndrome: a meta-analysis. J Clin Sleep Med. 2018 May;14(5) https://doi.org/10.5664/jcsm.7126
- 14 Brockmann PE, Damiani F, Nuñez F, Moya A, Pincheira E, Paul MA. et al. Sleep-disordered breathing in children with Down syndrome: usefulness of home polysomnography. Int J Pediatr Otorhinolaryngol 2016; Apr; 83: 47-50 https://doi.org/10.1016/j.ijporl.2016.01.030
- 15 Coverstone AM, Bird M, Sicard M, Tao Y, Grange DK, Cleveland C. et al. Overnight pulse oximetry for evaluation of sleep apnea among children with trisomy 21. J Clin Sleep Med 2014; Dec; 10 (12) 1309-1315 https://doi.org/10.5664/jcsm.4286
- 16 Giménez S, Videla L, Romero S, Benejam B, Clos S, Fernández S. et al. Prevalence of sleep disorders in adults with down syndrome: a comparative study of self-reported, actigraphic, and polysomnographic findings. J Clin Sleep Med 2018; Oct; 14 (10) 1725-1733 https://doi.org/10.5664/jcsm.7382
- 17 Hill CM, Evans HJ, Elphick H, Farquhar M, Pickering RM, Kingshott R. et al. Prevalence and predictors of obstructive sleep apnoea in young children with Down syndrome. Sleep Med 2016; Nov-Dec 27-28: 99-106 https://doi.org/10.1016/j.sleep.2016.10.001
- 18 Lee NC, Hsu WC, Chang LM, Chen YC, Huang PT, Chien CC. et al. REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample. J Formos Med Assoc 2020; Jan;119(1 Pt 3) 516-523 https://doi.org/10.1016/j.jfma.2019.07.015
- 19 Lin SC, Davey MJ, Horne RS, Nixon GM. Screening for obstructive sleep apnea in children with Down syndrome. J Pediatr 2014; Jul; 165 (01) 117-122 https://doi.org/10.1016/j.jpeds.2014.02.032
- 20 Maris M, Verhulst S, Wojciechowski M, Van de Heyning P, Boudewyns A. Sleep problems and obstructive sleep apnea in children with down syndrome, an overview. Int J Pediatr Otorhinolaryngol 2016; Mar; 82: 12-15 https://doi.org/10.1016/j.ijporl.2015.12.014
- 21 Nerfeldt P, Sundelin A. Obstructive sleep apnea in children with down syndrome prevalence and evaluation of surgical treatment. Int. J. Pediatr. Otorhinolaryngol 2020; Jun; 133: 109968-109968 https://doi.org/10.1016/j.ijporl.2020.109968
- 22 Waters KA, Castro C, Chawla J. The spectrum of obstructive sleep apnea in infants and children with Down syndrome. Int. J. Pediatr. Otorhinolaryngol 2020; Feb; 129: 109763-109763 https://doi.org/10.1016/j.ijporl.2019.109763
- 23 Hoffmire CA, Magyar CI, Connolly HV, Fernandez ID, van Wijngaarden E. High prevalence of sleep disorders and associated comorbidities in a community sample of children with Down syndrome. J Clin Sleep Med 2014; Apr; 10 (04) 411-419 https://doi.org/10.5664/jcsm.3618
- 24 Chawla JK, Howard A, Burgess S, Heussler H. Sleep problems in Australian children with Down syndrome: the need for greater awareness. Sleep Med 2021; Feb; 78: 81-87 https://doi.org/10.1016/j.sleep.2020.12.022
- 25 Gomes MF, Giannasi LC, Fillietaz-Bacigalupo E, de Mancilha GP, de Carvalho Silva GR, Soviero LD. et al. Evaluation of the masticatory biomechanical function in Down syndrome and its Influence on sleep disorders, body adiposity and salivary parameters. J Oral Rehabil 2020; Aug; 47 (08) 1007-1022 https://doi.org/10.1111/joor.13023
- 26 Brooks LJ, Olsen MN, Bacevice AM, Beebe A, Konstantinopoulou S, Taylor HG. Relationship between sleep, sleep apnea, and neuropsychological function in children with Down syndrome. Sleep Breath. 2015 19(1) https://doi.org/10.1007/s11325-014-0992-y
- 27 Breslin J, Spanò G, Bootzin R, Anand P, Nadel L, Edgin J. Obstructive sleep apnea syndrome and cognition in Down syndrome. Dev Med Child Neurol 2014; Jul; 56 (07) 657-664 https://doi.org/10.1111/dmcn.12376
- 28 Joyce A, Elphick H, Farquhar M, Gringras P, Evans H, Bucks RS. et al. Obstructive sleep apnoea contributes to executive function impairment in young children with Down syndrome. Behav Sleep Med 2020; Sep-Oct 18 (05) 611-621 https://doi.org/10.1080/15402002.2019.1641501
- 29 Shaw D, Bar S, Champion JD. The Impact of developmental behavioral pediatrics in a population of children with Down syndrome. J Pediatr Nurs 2021; Mar-Apr 57: 38-42 https://doi.org/10.1016/j.pedn.2020.10.019
- 30 Anand V, Shukla G, Gupta N, Gupta A, Sapra S, Gulati S. et al. Association of sleep apnea with development and behavior in Down syndrome: a prospective clinical and polysomnographic study. Pediatr Neurol 2021; Mar; 116: 7-13 https://doi.org/10.1016/j.pediatrneurol.2020.10.007
- 31 Bassam A, Thacker J, Walter LM, Davey MJ, Nixon GM, Horne RS. Nocturnal dipping of heart rate is impaired in children with Down syndrome and sleep disordered breathing. Sleep Med 2021; May; 81: 466-473 https://doi.org/10.1016/j.sleep.2021.03.020
- 32 Siriwardhana LS, Nixon GM, Davey MJ, Mann DL, Landry SA, Edwards BA. et al. Children with down syndrome and sleep disordered breathing display impairments in ventilatory control. Sleep Med 2021; Oct; 77: 161-169 https://doi.org/10.1016/j.sleep.2020.12.005
- 33 Ono J, Chishaki A, Ohkusa T, Sawatari H, Nishizaka M, Ando S. Obstructive sleep apnea-related symptoms in Japanese people with Down syndrome. Nurs Health Sci 2015; Dec; 17 (04) 420-425 https://doi.org/10.1111/nhs.12206
- 34 Santoro JD, Del Rosario J, Osterbauer B, Gillett ES, Don DM. Sleep positions in children with Down syndrome and obstructive sleep apnea. Sleep Med 2021; May; 81: 463-465 https://doi.org/10.1016/j.sleep.2021.03.018
- 35 Senthilvel E, Krishna J. Body position and obstructive sleep apnea in children with Down syndrome. J Clin Sleep Med 2011; Apr; 7 (02) 158-162
- 36 Nisbet LC, Phillips NN, Hoban TF, O’Brien LM. Effect of body position and sleep state on obstructive sleep apnea severity in children with Down syndrome. J Clin Sleep Med 2014; Jan; 10 (01) 81-88 https://doi.org/10.5664/jcsm.3368
- 37 Maris M, Verhulst S, Saldien V, Van de Heyning P, Wojciechowski M, Boudewyns A. Drug-induced sedation endoscopy in surgically naive children with Down syndrome and obstructive sleep apnea. Sleep Med 2016; Aug; 24: 63-70 https://doi.org/10.1016/j.sleep.2016.06.018
- 38 Capone GT, Aidikoff JM, Taylor K, Rykiel N. Adolescents and young adults with Down syndrome presenting to a medical clinic with depression: co-morbid obstructive sleep apnea. Am J Med Genet A 2013; 161A (09) 2188-2196 https://doi.org/10.1002/ajmg.a.36052
- 39 Thottam PJ, Trivedi S, Siegel B, Williams K, Mehta D. Comparative outcomes of severe obstructive sleep apnea in pediatric patients with Trisomy 21. Int J Pediatr Otorhinolaryngol 2015; Jul; 79 (07) 1013-1016 https://doi.org/10.1016/j.ijporl.2015.04.015
- 40 Austeng ME, Øverland B, Kværner KJ, Andersson EM, Axelsson S, Abdelnoor M. et al. Obstructive sleep apnea in younger school children with Down syndrome. Int J Pediatr Otorhinolaryngol 2014; Jul; 78 (07) 1026-1029 https://doi.org/10.1016/j.ijporl.2014.03.030
- 41 Konstantinopoulou S, Tapia IE, Kim JY, Xanthopoulos MS, Radcliffe J, Cohen MS. et al. Relationship between obstructive sleep apnea cardiac complications and sleepiness in children with Down syndrome. Sleep Med 2016; Jan; 17: 18-24 https://doi.org/10.1016/j.sleep.2015.09.014
- 42 Richard N, Beydon N, Berdah L, Corvol H, Aubertin G, Taytard J. Nocturnal hypoventilation in Down syndrome children with or without sleep apnea. Pediatr Pulmonol 2020; May; 55 (05) 1246-1253 https://doi.org/10.1002/ppul.24703
- 43 Nehme J, LaBerge R, Pothos M, Barrowman N, Hoey L, Monsour A. et al. Predicting the presence of sleep-disordered breathing in children with Down syndrome. Sleep Med 2017; Aug; 36: 104-108 https://doi.org/10.1016/j.sleep.2017.03.032
- 44 Maris M, Verhulst S, Wojciechowski M, Van de Heyning P, Boudewyns A. Outcome of adenotonsillectomy in children with Down syndrome and obstructive sleep apnoea. Arch Dis Child. 2017 Mar;102(4) http://doi.org/10.1136/archdischild-2015-310351
- 45 Chamseddin BH, Johnson RF, Mitchell RB. Obstructive Sleep Apnea in Children with Down syndrome: demographic, clinical, and polysomnographic features. Otolaryngol Head Neck Surg. 2019 160(1) https://doi.org/10.1177/0194599818797308
- 46 Maris M, Verhulst S, Wojciechowski M, Van de Heyning P, Boudewyns A. Prevalence of obstructive sleep apnea in children with Down syndrome. Sleep 2016; Mar; 39 (03) 699-704 http://doi.org/10.5665/sleep.5554
- 47 Stores RJ, Stores G. The significance of aspects of screening for obstructive sleep apnoea in children with Down syndrome. J Intellect Disabil Res 2014; Apr; 58 (04) 381-392 http://doi.org/10.1111/jir.12033
- 48 Wijayaratne PR, Williams K, Davey MJ, Horne RSC, Nixon GM. Factors associated with referral for polysomnography in children with Down syndrome. Sleep Med 2021; Jun; 82: 29-36 http://doi.org/10.1016/j.sleep.2021.03.019
- 49 Carvalho AA, Amorim FF, Santana LA, de Almeida KJQ, Santana ANC, Neves FAR. STOP-Bang questionnaire should be used in all adults with Down syndrome to screen for moderate to severe obstructive sleep apnea. PLoS One 2020; May; 15 (05) e0232596 http://doi.org/10.1371/journal.pone.0232596
- 50 Hill CM, Elphick HE, Farquhar M, Gringras P, Pickering RM, Kingshott RN. et al. Home oximetry to screen for obstructive sleep apnoea in Down syndrome. Arch Dis Child 2018; Oct; 103 (10) 962-967 http://doi.org/10.1136/archdischild-2017-314409
- 51 Skotko BG, Macklin EA, Muselli M, Voelz L, McDonough ME, Davidson E. et al. A predictive model for obstructive sleep apnea and Down syndrome. Am J Med Genet A 2017; Apr; 173 (04) 889-896 http://doi.org/10.1002/ajmg.a.38137
- 52 Beppler EC, Dieffenderfer J, Songkakul T, Krystal A, Bozkurt A. An ultra-miniaturized near infrared spectroscopy system to assess sleep apnea in children with Down syndrome. Annu Int Conf IEEE Eng Med Biol Soc 2018; Jul; 2018: 2877-2880 http://doi.org/10.1109/EMBC.2018.8513038
- 53 Elsharkawi I, Gozal D, Macklin EA, Voelz L, Weintraub G, Skotko BG. Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome. Sleep Med 2017; Jun; 34: 84-89 http://doi.org/10.1016/j.sleep.2017.02.005
- 54 Jayaratne YSN, Elsharkawi I, Macklin EA, Voelz L, Weintraub G, Rosen D. et al. The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea. Am J Med Genet A 2017; Nov; 173 (11) 3013-3021 https://doi.org/10.1002/ajmg.a.38399
- 55 Dudoignon B, Amaddeo A, Frapin A, Thierry B, de Sanctis L, Arroyo JO. et al. Obstructive sleep apnea in Down syndrome: Benefits of surgery and noninvasive respiratory support. Am J Med Genet A 2017; Aug; 173 (08) 2074-2080 https://doi.org/10.1002/ajmg.a.38283
- 56 Ong AA, Atwood CM, Nguyen SA, Teufel RJ, Lal C, LaRosa AC. et al. Down syndrome and pediatric obstructive sleep apnea surgery: A national cohort. Laryngoscope 2018; Aug; 128 (08) 1963-1969 https://doi.org/10.1002/lary.27063
- 57 Prosser JD, Shott SR, Rodriguez O, Simakajornboon N, Meinzen-Derr J, Ishman SL. Polysomnographic outcomes following lingual tonsillectomy for persistent obstructive sleep apnea in down syndrome. Laryngoscope 2017; Feb; 127 (02) 520-524 https://doi.org/10.1002/lary.26202
- 58 von Lukowicz M, Herzog N, Ruthardt S, Quante M, Iven G, Poets CF. Effect of a 1-week intense myofunctional training on obstructive sleep apnoea in children with Down syndrome. Arch Dis Child 2019; Mar; 104 (03) 275-279 https://doi.org/10.1136/archdischild-2018-315064
- 59 Akkina SR, Ma CC, Kirkham EM, Horn DL, Chen ML, Parikh SR. Does drug induced sleep endoscopy-directed surgery improve polysomnography measures in children with Down Syndrome and obstructive sleep apnea?. Acta Otolaryngol 2018; Nov; 138 (11) 1009-1013 https://doi.org/10.1080/00016489.2018.1504169
- 60 Best J, Mutchnick S, Ida J, Billings KR. Trends in management of obstructive sleep apnea in pediatric patients with Down syndrome. Int J Pediatr Otorhinolaryngol 2018; Jul; 110: 1-5 https://doi.org/10.1016/j.ijporl.2018.04.008
- 61 Howard JJM, Sarber KM, Yu W, Smith DF, Tikhtman RO, Simakajornboon N. et al. Outcomes in children with down syndrome and mild obstructive sleep apnea treated non-surgically. Laryngoscope 2020; Jul; 130 (07) 1828-1835 https://doi.org/10.1002/lary.28325
- 62 Diercks GR, Keamy D, Kinane TB, Skotko B, Schwartz A, Grealish E. et al. Hypoglossal nerve stimulator implantation in an adolescent with Down syndrome and sleep apnea. Pediatrics 2016; May; 137 (05) e20153663 https://doi.org/10.1542/peds.2015-3663
- 63 Caloway CL, Diercks GR, Keamy D, de Guzman V, Soose R, Raol N. et al. Update on hypoglossal nerve stimulation in children with down syndrome and obstructive sleep apnea. Laryngoscope 2020; Apr; 130 (04) E263-E267 https://doi.org/10.1002/lary.28138
- 64 Mylavarapu G, Subramaniam D, Jonnagiri R, Gutmark EJ, Fleck RJ, Amin RS. et al. Computational modeling of airway obstruction in sleep apnea in down syndrome: a feasibility study. Otolaryngol Head Neck Surg 2016; Jul; 155 (01) 184-187 https://doi.org/10.1177/0194599816639544
- 65 Slaats M, Loterman Cedric van Holsbeke C, Vos W, Van Hoorenbeeck K. et al. The role of functional respiratory imaging in treatment selection of children with obstructive sleep apnea and Down syndrome. J Clin Sleep Med 2018; Apr; 14 (04) 651-659 https://doi.org/10.5664/jcsm.7064