Kinderpneumologische Aspekte bei der Betreuung von Kindern mit Down-Syndrom

Zusammenfassung

Pneumologische Probleme sind bei Kindern mit Down-Syndrom/Trisomie 21 neben anderen gesundheitlichen Aspekten häufig, aber zu wenig beachtet. Das Ziel dieses Reviews ist es, diese Aspekte für den Kinderpneumologen zusammenzufassen. Enge Nasengänge, ein schmaler Pharynx und Larynx bedingen zusammen mit der relativen Makroglossie und anderen Fehlbildungen der Atemwege sowie der generalisierten muskulären Hypotonie eine Glossoptose, die bereits bei sehr kleinen Säuglingen ein obstruktives Schlafapnoe-Syndrom hervorrufen kann, welches unbehandelt mit schlechter kognitiver Entwicklung assoziiert ist. Die Kinder leiden weiterhin häufig an einer chronischen Rhinitis. Zusammen mit stillen Aspirationen im Rahmen der typischen Dysphagie von Kindern mit Trisomie 21 und einer Immundysregulation sind untere Atemwegsinfektionen häufig und verlaufen oft schwer. Virusinfektionen (z. B. durch RSV, Influenzaviren und SARS-CoV-2) verlaufen schwerer, führen häufiger zu Hospitalisierungen und haben eine höhere Mortalität als bei gesunden Kindern. Kinder mit Down-Syndrom entwickeln häufiger rezidivierende obstruktive Bronchitiden. Eine pulmonale Hypertension kann bei diesen Kindern selten auch ohne assoziiertes Vitium cordis auftreten. In diesem Beitrag werden für den Kinderpneumologen die Aufgaben in Diagnostik und Therapie von pneumologischen Problemen von Kindern mit Down-Syndrom im Zusammenspiel mit anderen Fachdisziplinen zusammengefasst.

Abstract

Pulmonary problems are common in children with Downsyndrome/trisomy 21, alongside other health issues, but are often given too little attention. The aim of this review is to summarize these aspects for pediatric pulmonologists. Narrow nasal passages, a small pharynx and larynx, in combination with relative macroglossia, other airway malformations, and generalized muscular hypotonia, lead to glossoptosis, which in very young infants frequently causes obstructive sleep apnea syndrome. If left untreated, this is associated with impaired cognitive development. The children also suffer from chronic rhinitis. Together with recurrent silent aspirations resulting from the typical dysphagia of children with Trisomie 21 and immune dysregulation, lower respiratory tract infections are common and often severe. Viral infections caused by RSV, influenza, and SARS-CoV-2 more frequently lead to hospitalizations and have a much higher mortality rate than in healthy children. Children with Down syndrome are also more likely to develop chronic wheezing. The development of pulmonary hypertension may rarely occur even without an associated heart defect. This article summarizes the diagnostic and therapeutic tasks related to pulmonary problems in children with Down syndrome for the pediatric pulmonologist.

Schlüsselwörter

Down-Syndrom - Trisomie 21 - Heimbeatmung - außerklinische Beatmung - OSAS - Tonsillektomie

Keywords

Down syndrome - Trisomy 21 - home mechanical ventilation - obstructive sleep apnea - home ventilation - tonsillectomy

Publikationsverlauf

Eingereicht: 29. August 2025

Angenommen nach Revision: 14. November 2025

Artikel online veröffentlicht:
11. Dezember 2025

• Literatur

• 1 Hoppen T. Bestandsaufnahme gut 150 Jahre nach der Erstbeschreibung. Pädiatrie 2021; 33: 40-45
• 2 De Lausnay M, Ides K, Wojciechowski M. et al. Pulmonary complications in children with Down syndrome: A scoping review. Paediatr Respir Rev 2021; 40: 65-72
• 3 Bertrand P, Navarro H, Caussade S. et al. Airway anomalies in children with Down syndrome: endoscopic findings. Pediatr Pulmonol 2003; 36: 137-141
• 4 Fockens MM, Hölscher M, Limpens J. et al. Tracheal anomalies associated with Down syndrome: A systematic review. Pediatr Pulmonol 2021; 56: 814-822
• 5 Craven VE, Daw WJ, Wan JWY. et al. Respiratory and airway disorders in children with Down Syndrome: a review of the clinical challenges and management. Front Pediatr 2025; 13: 1553984
• 6 Hamilton J, Yaneza MMC, Clement WA. et al. The prevalence of airway problems in children with Down’s syndrome. Int J Pediatr Otorhinolaryngol 2016; 81: 1-4
• 7 Lee SL, Cheung YF, Leung MP. et al. Airway obstruction in children with congenital heart disease: assessment by flexible bronchoscopy. Pediatr Pulmonol 2002; 34: 304-311
• 8 Goussard P, Eber E, Venkatakrishna S. et al. Bronchoscopy findings in children with congenital lung and lower airway abnormalities. Paediatr Respir Rev 2024; 49: 43-61
• 9 De Lausnay M, Verhulst S, Boel L. et al. The prevalence of lower airway anomalies in children with Down syndrome compared to controls. Pediatr Pulmonol 2020; 55: 1259-1263
• 10 Borenstein M, Minekawa R, Zidere V. et al. Aberrant right subclavian artery at 16 to 23+6 weeks of gestation: a marker for chromosomal abnormality. Ultrasound Obstet Gynecol 2010; 36: 548-552
• 11 Rosen D. Management of obstructive sleep apnea associated with Down syndrome and other craniofacial dysmorphologies. Curr Opin Pulm Med 2011; 17: 431-436
• 12 Bull MJ, Trotter T, Santoro SL. et al. Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics 2022; 149: e2022057010
• 13 Donnelly LF, Shott SR, LaRose CR. et al. Causes of persistent obstructive sleep apnea despite previous tonsillectomy and adenoidectomy in children with down syndrome as depicted on static and dynamic cine MRI. AJR Am J Roentgenol 2004; 183: 175-181
• 14 Shott SR, Donnelly LF. Cine magnetic resonance imaging: evaluation of persistent airway obstruction after tonsil and adenoidectomy in children with Down syndrome. The Laryngoscope 2004; 114: 1724-1729
• 15 Uong EC, McDonough JM, Tayag-Kier CE. et al. Magnetic resonance imaging of the upper airway in children with Down syndrome. Am J Respir Crit Care Med 2001; 163: 731-736
• 16 Mitchell RB, Call E, Kelly J. Diagnosis and therapy for airway obstruction in children with Down syndrome. Arch Otolaryngol Head Neck Surg 2003; 129: 642-645
• 17 Fricke BL, Donnelly LF, Shott SR. et al. Comparison of lingual tonsil size as depicted on MR imaging between children with obstructive sleep apnea despite previous tonsillectomy and adenoidectomy and normal controls. Pediatr Radiol 2006; 36: 518-523
• 18 Hilgenkamp TIM, Davidson E, Diaz KM. et al. Weight-loss interventions for adolescents with Down syndrome: a systematic review. Obes Silver Spring Md 2025; 33: 632-658
• 19 Bertapelli F, Pitetti K, Agiovlasitis S. et al. Overweight and obesity in children and adolescents with Down syndrome-prevalence, determinants, consequences, and interventions: A literature review. Res Dev Disabil 2016; 57: 181-192
• 20 Fitzgerald DA, Paul A, Richmond C. Severity of obstructive apnoea in children with Down syndrome who snore. Arch Dis Child 2007; 92: 423-425
• 21 Shott SR, Amin R, Chini B. et al. Obstructive sleep apnea: Should all children with Down syndrome be tested?. Arch Otolaryngol Head Neck Surg 2006; 132: 432-436
• 22 Ng DK, Chan C, Cheung JM. Children with Down syndrome and OSA do not necessarily snore. Arch Dis Child 2007; 92: 1047-1048
• 23 Rohrer T, Jung A-M, Muche-Borowski C. et al. AWMF Online Down-Syndrom im Kindes- und Jugendalter. Konsensbasierte Leitlinie (S2k) der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ) und der beteiligten Fachgesellschaften, Berufsverbände und weiterer Organisationen WwwawmforgleitlininiendetailII027-051html AWMF Online 2016
• 24 Urschitz MS, Poets CF, Stuck BA. et al. [Snoring in children. Algorithm for diagnostic approach]. HNO 2014; 62: 586-589
• 25 Farhood Z, Isley JW, Ong AA. et al. Adenotonsillectomy outcomes in patients with Down syndrome and obstructive sleep apnea. The Laryngoscope 2017; 127: 1465-1470
• 26 MacDonagh L, Farrell L, O’Reilly R. et al. Efficacy and adherence of noninvasive ventilation treatment in children with Down syndrome. Pediatr Pulmonol 2021; 56: 1704-1715
• 27 Svensson M, Ekström M, Sundh J. et al. Adherence to CPAP therapy in Down syndrome: the population-based DISCOVERY study. J Clin Sleep Med. 2023; 19: 453-458
• 28 Amaddeo A, Khirani S, Frapin A. et al. High-flow nasal cannula for children not compliant with continuous positive airway pressure. Sleep Med 2019; 63: 24-28
• 29 Hawkins S, Huston S, Campbell K. et al. High-Flow, Heated, Humidified Air Via Nasal Cannula Treats CPAP-Intolerant Children With Obstructive Sleep Apnea. J Clin Sleep Med. 2017; 13: 981-989
• 30 Overbergh C, Installe S, Boudewyns A. et al. The Optiflow^TM interface for chronic CPAP use in children. Sleep Med 2018; 44: 1-3
• 31 Konstantinopoulou S, Tapia IE, Kim JY. et al. Relationship between obstructive sleep apnea cardiac complications and sleepiness in children with Down syndrome. Sleep Med 2016; 17: 18-24
• 32 Marcus CL, Radcliffe J, Konstantinopoulou S. et al. Effects of positive airway pressure therapy on neurobehavioral outcomes in children with obstructive sleep apnea. Am J Respir Crit Care Med 2012; 185: 998-1003
• 33 Brooks LJ, Olsen MN, Bacevice AM. et al. Relationship between sleep, sleep apnea, and neuropsychological function in children with Down syndrome. Sleep Breath 2015; 19: 197-204
• 34 Ioan I, Weick D, Sevin F. et al. Neurocognitive evaluation of children with down syndrome and obstructive sleep apnea syndrome. Sleep Med 2022; 100: 542-549
• 35 Fauroux B, Sacco S, Couloigner V. et al. Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study. Lancet Reg Health Eur 2024; 45: 101035
• 36 Manikam L, Schilder AGM, Lakhanpaul M. et al. Respiratory tract infection-related healthcare utilisation in children with Down’s syndrome. Infection 2020; 48: 403-410
• 37 Blake JM, Estrada Gomez D, Skotko BG. et al. Pneumonia and respiratory infection in Down syndrome: A 10-year cohort analysis of inpatient and outpatient encounters across the lifespan. Am J Med Genet A 2021; 185: 2878-2887
• 38 Santoro SL, Chicoine B, Jasien JM. et al. Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature. Am J Med Genet A 2021; 185: 286-299
• 39 Zhang Q, Guo Z, Bai Z. et al. A 4 year prospective study to determine risk factors for severe community acquired pneumonia in children in southern China. Pediatr Pulmonol 2013; 48: 390-397
• 40 Joffre C, Lesage F, Bustarret O. et al. Children with Down syndrome: Clinical course and mortality-associated factors in a French medical paediatric intensive care unit. J Paediatr Child Health 2016; 52: 595-599
• 41 Bloemers BLP, van Furth AM, Weijerman ME. et al. Down syndrome: a novel risk factor for respiratory syncytial virus bronchiolitis--a prospective birth-cohort study. Pediatrics 2007; 120: e1076-e1081
• 42 Beckhaus AA, Castro-Rodriguez JA. Down Syndrome and the Risk of Severe RSV Infection: A Meta-analysis. Pediatrics 2018; 142: e20180225
• 43 Illouz T, Biragyn A, Iulita MF. et al. Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome. Front Immunol 2021; 12: 621440
• 44 Pérez-Padilla R, Fernández R, García-Sancho C. et al. Pandemic (H1N1) 2009 virus and Down syndrome patients. Emerg Infect Dis 2010; 16: 1312-1314
• 45 Narawane A, Eng J, Rappazzo C. et al. Airway protection & patterns of dysphagia in infants with down syndrome: Videofluoroscopic swallow study findings & correlations. Int J Pediatr Otorhinolaryngol 2020; 132: 109908
• 46 Jackson A, Maybee J, Moran MK. et al. Clinical Characteristics of Dysphagia in Children with Down Syndrome. Dysphagia 2016; 31: 663-671
• 47 Jackson A, Maybee J, Wolter-Warmerdam K. et al. Associations between age, respiratory comorbidities, and dysphagia in infants with down syndrome. Pediatr Pulmonol 2019; 54: 1853-1859
• 48 Zalzal HG, Lawlor CM. Down Syndrome for the Otolaryngologist: A Review. JAMA Otolaryngol-Head Neck Surg 2023; 149: 360-367
• 49 Foley C, Killeen OG. Musculoskeletal anomalies in children with Down syndrome: an observational study. Arch Dis Child 2019; 104: 482-487
• 50 Dieudonné Y, Uring-Lambert B, Jeljeli MM. et al. Immune Defect in Adults With Down Syndrome: Insights Into a Complex Issue. Front Immunol 2020; 11: 840
• 51 Ramba M, Bogunovic D. The immune system in Down Syndrome: Autoimmunity and severe infections. Immunol Rev 2024; 322: 300-310
• 52 Ram G, Chinen J. Infections and immunodeficiency in Down syndrome. Clin Exp Immunol 2011; 164: 9-16
• 53 Weijerman ME, Brand PLP, van Furth MA. et al. Recurrent wheeze in children with Down syndrome: is it asthma?. Acta Paediatr Oslo Nor 1992 2011; 100: e194-e197
• 54 Eijsvoogel NB, Verstegen RHJ, van Well GTJ. et al. Increased rate of respiratory symptoms in children with Down syndrome: a 2-year web-based parent-reported prospective study. Eur J Pediatr 2022; 181: 4079-4089
• 55 Bush D, Galambos C, Ivy DD. et al. Clinical Characteristics and Risk Factors for Developing Pulmonary Hypertension in Children with Down Syndrome. J Pediatr 2018; 202: 212-219.e2
• 56 Shah PS, Hellmann J, Adatia I. Clinical characteristics and follow up of Down syndrome infants without congenital heart disease who presented with persistent pulmonary hypertension of newborn. J Perinat Med 2004; 32: 168-170
• 57 Bloch K, Witztum A, Wieser HG. et al. [Obstructive sleep apnea syndrome in a child with trisomy 21]. Monatsschr Kinderheilkd 1990; 138: 817-822
• 58 Biko DM, Schwartz M, Anupindi SA. et al. Subpleural lung cysts in Down syndrome: prevalence and association with coexisting diagnoses. Pediatr Radiol 2008; 38: 280-284
• 59 Bush D, Abman SH, Galambos C. Prominent Intrapulmonary Bronchopulmonary Anastomoses and Abnormal Lung Development in Infants and Children with Down Syndrome. J Pediatr 2017; 180: 156-162.e1
• 60 Deutsch GH, Young LR, Deterding RR. et al. Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med 2007; 176: 1120-1128
• 61 Alimi A, Taytard J, Abou Taam R. et al. Pulmonary hemosiderosis in children with Down syndrome: a national experience. Orphanet J Rare Dis 2018; 13: 60