Atemwegs- und Lungenerkrankungen beim Down-Syndrom

Bernd Schönhofer; Tanja Sappok

doi:10.1055/a-2733-3375

Pneumologie, Table of Contents

Pneumologie
DOI: 10.1055/a-2733-3375

Originalarbeit

Atemwegs- und Lungenerkrankungen beim Down-Syndrom

Respiratory and lung diseases in patients with Down Syndrome

Authors

Bernd Schönhofer

¹Klinik für Pneumologie und Infektiologie der Medizinischen Hochschule Hannover, Hannover, Deutschland (Ringgold ID: RIN39718)
Tanja Sappok

²Universität Bielefeld, Medizinische Fakultät und Universitätsklinikum OWL, Krankenhaus Mara, Universitätsklinik für Inklusive Medizin, Bielefeld, Deutschland (Ringgold ID: RIN575404)

Abstract

Widmung

Wir danken Markus Schönhofer und allen anderen Menschen mit Down-Syndrom, denen wir begegnet sind und die auch unser Leben reicher gemacht haben. Auch sprechen wir Frau Andrea Schäfer unseren herzlich Dank dafür aus, dass sie den Artikel mit dem ansprechenden Cartoon zu den häufigsten Atemwegs- und Lungenerkrankungen beim Down-Syndrom illustriert hat.

Zusammenfassung

Zu den Lungenproblemen, die bei Kindern mit Down-Syndrom und in deren weiteren Leben häufig auftreten, gehören wiederkehrende und schwerer Atemwegsinfektionen, Atemwegsanomalien, Lungengefäßerkrankungen, zystische Lungenerkrankungen und obstruktive Schlafapnoe. Mit dem Down-Syndrom verbundene Erkrankungen wie Hypotonie, Dysphagie und Immunstörungen können die wiederkehrenden Atemwegsproblemen aggravieren. Daher sollten bei Kindern und Erwachsenen mit Down-Syndrom und rezidivierenden bronchopulmonalen Symptomen diese Krankheitsbilder berücksichtigt und adäquat behandelt werden. Das mit diesen bronchopulmonalen Erkrankungen einhergehende, erhöhte Morbiditäts- und Mortalitätsrisiko wird durch weitere Komorbiditäten, wie z.B. Adipositas, koronare Herzkrankheit, Magen-Darm-Erkrankungen oder perioperative Komplikationen, zusätzlich erhöht. Die hohe Rate an Aspirationspneumonien macht es dringend erforderlich, bei allen Menschen mit Down-Syndrom konsequent eine ggfs. vorliegende Dysphagie abzuklären und ggf. präventive Maßnahmen (wie z.B. Mundpflege und Schlucktraining) anzuwenden.
Angesichts der Komplexität mancher pulmonalen Krankheiten beim Down-Syndrom, wie z.B. der pulmonalen Hypertonie, empfiehlt sich die Therapie in spezialisierten Zentren.
Die Entwicklung spezifischer medizinischer Versorgungsprogramme für die Diagnostik und Therapie der Lungen- und Atemwegserkrankungen bei Personen mit Down-Syndrom ist von zentraler Bedeutung.

Abstract

Among the pulmonary issues frequently observed in children with Down syndrome and in the further course of their lives are recurrent and severe respiratory infections, airway anomalies, pulmonary vascular diseases, cystic lung diseases, and obstructive sleep apnea.
Common conditions associated with Down syndrome, such as hypotonia, dysphagia, and immune system disorders, can contribute to recurrent respiratory problems. Therefore, children and adults with Down syndrome and persistent or unexplained respiratory symptoms should have these underlying health conditions considered and be treated appropriately. In addition to these respiratory complications, increased morbidity and mortality are often due to further comorbidities, such as obesity, congenital heart defects, gastroesophageal reflux, other gastrointestinal disorders and perioperative complications.
It is crucial to recognize that aspiration pneumonia is a significant risk factor; thus, all individuals with Down syndrome should be systematically evaluated for dysphagia, and preventive measures (such as oral hygiene and swallowing training) should be implemented as needed.
Given the complexity of certain pulmonary conditions, such as pulmonary hypertension, treatment in specialized centers is recommended.
The development of specialized medical care programs for the diagnosis and treatment of respiratory diseases in individuals with Down syndrome is of central importance.

Schlüsselwörter

Down-Syndrom - Atemwegs- und Lungenerkrankungen - obstruktive Schlafapnoe - Aspiration - Morbiditäts- und Mortalitätsrisiko

Keywords

Down Syndrome - airways and lung diseases - obstructive sleep apnea - aspiration - risk of morbidity and mortality

Full Text

References

Literatur
1 Glasson EJ, Sullivan SG, Hussain R. et al. The changing survival proﬁle of people with Down’s syndrome: Implications for genetic counselling. Clinical Genetics 2002; 62: 390-393
2 Iulita MF, Garzón Chavez D, Klitgaard Christensen M. et al. Association of Alzheimer Disease With Life Expectancy in People With Down Syndrome. JAMA network open 2022; 5: e2212910
3 de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in Europe. Eur J Hum Genet 2021; 29: 402-410
4 Davidson MA. Primary care for children and adolescents with Down syndrome. Pediatr Clin North Am 2008; 55: 1099-1111
5 Bittles AH, Bower C, Hussain R. et al. The four ages of Down syndrome. Eur J Public Health 2007; 17: 221-225
6 Shott SR. Down syndrome: common otolaryngologic manifestations. Am J Med Genet C Semin Med Genet 2006; 142C: 131-140
7 Bertrand P, Navarro H, Caussade S. et al. Airway anomalies in children with Down syndrome: endoscopic findings. Pediatr Pulmonol 2003; 36: 137-141
8 Fitzgerald DA, Paul A, Richmond C. Severity of obstructive apnoea in children with Down syndrome who snore. Arch Dis Child 2007; 92: 423-425
9 Guimaraes CV, Donnelly LF, Shott SR. et al. Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea. Pediatr Radiol 2008; 38: 1062-1067
10 Schönhofer B. Promotion: Oro-faziale Verhältnisse beim Down Syndrom. Aachen: Abteilung für Zahn,- Mund- und Kieferchirurgie, RWTH Aachen; 1987
11 Chowdary YC, Patel JP. Recurrent pulmonary edema: an uncommon presenting feature of childhood obstructive sleep apnea hypoventilation syndrome in an otherwise healthy child. Clin Pediatr (Phila) 2001; 40: 287-290
12 Hill EA, Williams LJ, Cooper SA. et al. Objective and Subjective Prevalence of Obstructive Sleep Apnoea/Hypopnoea Syndrome in UK Adults with Down Syndrome: A Strong Marker for Diurnal Behavioural Disturbances. Brain Sci 2021; 11: 1160
13 Hill EA, Fairley DM, Williams LJ. et al. Prospective Trial of CPAP in Community-Dwelling Adults with Down Syndrome and Obstructive Sleep Apnea Syndrome. Brain Sci 2020; 10: 844
14 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
15 Gonzalez OR, Gomez IG, Recalde AL. et al. Postnatal development of the cystic lung lesion of Down syndrome: suggestion that the cause is reduced formation of peripheral air spaces. Pediatr Pathol 1991; 11: 623-633
16 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
17 Cua CL, Blankenship A, North AL. et al. Increased incidence of idiopathic persistent pulmonary hypertension in Down syndrome neonate. Pediatr Cardiol 2007; 28: 250-254
18 Alimi A, Taytard J, Abou Taam R. et al. French RespiRare group. Pulmonary hemosiderosis in children with Down syndrome: a national experience. Orphanet J Rare Dis 2018; 13: 60
19 Galati DF, Sullivan KD, Pham AT. et al. Trisomy 21 represses cilia formation and function. Dev Cell 2018; 46: 641-650.e6
20 Bloemers BL, van Bleek GM, Kimpen JL. et al. Distinct abnormalities in the innate immune system of children with Down syndrome. J Pediatr 2010; 156: 804-809
21 Chan M, Park JJ, Shi T. et al. Respiratory Syncytial Virus Network (ReSViNET). The burden of respiratory syncytial virus (RSV) associated acute lower respiratory infections in children with Down syndrome: a systematic review and meta-analysis. J Glob Health 2017; 7: 020413
22 Janoff EN, Tseng HF, Nguyen JL. et al. Incidence and clinical outcomes of pneumonia in persons with down syndrome in the United States. Vaccine 2023; 41: 4571-4578
23 Weiner M, Stimson PM. Bronchopneumonia; mongolism. Arch Pediatr (N Y) 1948; 65: 331-334
24 Landes SD, Stevens JD, Turk MA. Cause of death in adults with Down syndrome in the United States. Disabil Health J 2020; 13: 100947
25 Motegi N, Morisaki N, Suto M. et al. Secular trends in longevity among people with Down syndrome in Japan. 1995–2016. Pediatr Int 2021; 63: 94-101
26 Ram G, Chinen J. Infections and immunodeficiency in Down syndrome. Clin Exp Immunol 2011; 164: 9-16
27 Hayes SA, Kutty S, Thomas J. et al. Affiliations Expand Cardiovascular and general health status of adults with Trisomy 21. Int J Cardiol 2017; 241: 173-176
28 Tenenbaum A, Chavkin M, Wexler ID. et al. Morbidity and hospitalizations of adults with Down syndrome. Res Dev Disabil 2012; 33: 435-441
29 Hilton JM, Fitzgerald DA, Cooper DM. Respiratory morbidity of hospitalized children with Trisomy 21. J Paediatr Child Health 1999; 35: 383-386
30 Köhler U, Degerli MA, Viniol C. et al. Dysphagie und obstruktive Schlafapnoe (OSA) – Was ist die pathophysiologische Brücke?. Pneumologie 2025; 79: 632-636
31 Chenbhanich J, Wu A, Phupitakphol T. et al. Hospitalisation of adults with Down syndrome: lesson from a 10-year experience from a community hospital. J Intellect Disabil Res 2019; 63: 266-276
32 Bruijn M, van der Aa LB, van Rijn RR. et al. High incidence of acute lung injury in children with Down syndrome. Intensive Care Med 2007; 33: 2179-2182
33 Velammal PNKP, Balasubramanian S, Ayoobkhan FS. et al. COVID-19 in patients with Down syndrome: A systematic review. Immun Inflamm Dis 2024; 12: e1219
34 Hüls A, Costa ACS, Dierssen M. et al. T21RS COVID-19 Initiative. Medical vulnerability of individuals with Down syndrome to severe COVID-19-data from the Trisomy 21 Research Society and the UK ISARIC4C survey. E Clinical Medicine 2021; 33: 100769
35 Clift AK, Coupland CAC, Keogh RH. et al. COVID-19 Mortality Risk in Down Syndrome: Results From a Cohort Study of 8 Million Adults. Ann Intern Med 2021; 174: 572-576
36 Espinosa JM. Down Syndrome and COVID-19: A Perfect Storm?. Cell Rep Med 2020; 1: 100019
37 Liese J. et al. S2k-Leitlinie zur Prophylaxe von schweren Erkrankungen durch Respiratory Syncytial Virus (RSV) bei Risikokindern. https://register.awmf.org/assets/guidelines/048-012l_S2k_Prophylaxe-von-schweren-Erkrankungen-durch-Respiratory-Syncytial-Virus-RSV-bei-Risikokindern_2024-10.pdf 2023
38 Kusters MA, Jol-Van Der Zijde EC, Gijsbers RH. et al. Decreased response after conjugated meningococcal serogroup C vaccination in children with Down syndrome. Pediatr Infect Dis J 2011; 30: 818-819
39 Kusters MA, Jol-van der Zijde CM, van Tol MJ. et al. Impaired avidity maturation after tetanus toxoid booster in children with Down syndrome. Pediatr Infect Dis J 2011; 30: 357-359
40 Kobert K, Kichner T, Schwarz B. et al. Die Patientenverfügung in einfacher Sprache, 8. aktualisierte Auflage. 2020 Accessed May 17, 2025 at: https://evkb.de/fileadmin/evkb-content/klinische-ethik/dokumente/klinische-ethik-patientenverfuegung-betreuungsverfuegung-einfache-sprache-202006.pdf