Advertisement

Anästhesiologische Besonderheiten der Trisomie 21 (Down-Syndrom)

  • K. Ihringer
  • N. Russ
  • A. Walther
  • J.-H. Schiff

Zusammenfassung

Die Trisomie 21, auch als Down-Syndrom bezeichnet, gehört mit einer Prävalenz von etwa l:800 Schwangerschaften zu den häufigsten angeborenen chromosomalen Veränderungen. Die meisten der resultierenden chronischen Behinderungen gelten als nichtheilbar und betreffen Menschen verschiedenen Alters, Bildungsstands und verschiedener Volkszugehörigkeit. Die Lebenserwartung dieser Patienten steigt – wie auch bei dem Rest der Bevölkerung – mit zunehmendem medizinischem Fortschritt. Aufgabe der Gesundheitsdienstleister ist es, Familien und Betroffenen zu helfen, die Folgen dieser Behinderungen zu mildern sowie mit den Einschränkungen möglichst gut zurechtzukommen. Symptom Variabilität und Expressivität des Down-Syndroms erscheinen äußerst vielfältig, basierend auf dem typischen Phänotyp mit der häufigen Trias aus mentaler Retardierung, Handanomalien und angeborenen Herzfehlern. Auch andere Veränderungen sind mitunter wichtig für die anästhesiologische Versorgung, wie eine atlantoaxiale Instabilität (AAI), Trachealstenose, Neigung zu respiratorischen Infektionen, Hypothyreoidismus, Mikrogenie und relative Makroglossie. Weiterhin haben Patienten bzw. Familien mit Kindern mit Down-Syndrom spezifische Erwartungen an die medizinische und anästhesiologische Versorgung.

Schlüsselwörter

Atlantoaxialgelenk Gelenkinstabilität Herzkrankheiten Respirationsstörungen Trachealstenose 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literature

  1. 1.
    Yang Q, Rasmussen SA, Friedman JM (2002) Mortality associated with Down’s Syndrome in the USA from 1983 to 1997: a population-based study. Lancet 359:1019–1025PubMedGoogle Scholar
  2. 2.
    DownJL (1866) Observationsonan ethnic Classification of idiots. Clin Lect Rep Lond Hosp 3:259–262Google Scholar
  3. 3.
    Meitzner MC, Skurnowicz JA (2005) Anesthetic considerations for patients with Down Syndrome. AANA J 73:103–107PubMedGoogle Scholar
  4. 4.
    Weijerman ME, Winter JP de (2010) Clinical practice.Thecareofchildren with Down Syndrome. Eur J Pediatr 169:1445–1452PubMedPubMedCentralGoogle Scholar
  5. 5.
    Wilken E (2003) Pränatale Diagnostik und Häufigkeit des Down-Syndroms. Leben Down-Syndr43:6ff.Google Scholar
  6. 6.
    Schiff JH, Russ N, Ihringer K et al (2012) Pediatric patients with disabilities assessment of satisfaction with anesthesia. Paediatr Anaesth 22:1117–1123Google Scholar
  7. 7.
    Speicher M, AntonarakisS, Motulsky A (2010) Vogel and Motulsky’s human genetics. Springer, Berlin Heidelberg New York Tokio, S 101 ff., 681 ff.CrossRefGoogle Scholar
  8. 8.
    Rex AP, Preus M (1982) A diagnostic index for Down Syndrome. J Pediatr 100:903–906PubMedGoogle Scholar
  9. 9.
    Borland LM, Colligan J, Brandom BW (2004) Frequency of anesthesia-related complications in children with Down Syndrome under general anesthesia for noncardiac procedures. Paediatr Anaesth 14:733–738PubMedGoogle Scholar
  10. 10.
    Pueschei SM, FindleyTW, Furia J et al (1987) Atlantoaxial instability in Down Syndrome: roentgenographic, neurologic, and somatosensory evoked potential studies. J Pediatr 110:515–521Google Scholar
  11. 11.
    Cohen W (1998) Atlantoaxial instability. What’s next? Arch Pediatr Adolesc Med 152:119–122PubMedGoogle Scholar
  12. 12.
    Kobel M, Creighton RE, Steward DJ (1982) Anaesthetic considerations in Down’s Syndrome: experience with 100 patients and a review ofthe literature. Can Anaesth SocJ 29:593–599Google Scholar
  13. 13.
    Morton RE, Khan MA, Murray-Leslie C et al (1995) Atlantoaxial instability in Down’s Syndrome: a five year follow up study. Arch Dis Child 72:115–118PubMedGoogle Scholar
  14. 14.
    Powell JF, WoodcockT, Luscombe FE (1990) Atlanto-axial Subluxation in Down’s Syndrome. Anaesthesia 45:1049–1051PubMedGoogle Scholar
  15. 15.
    Smith DS (2001) Health care management of adults with Down Syndrome. Am Fam Physician 64:1031103–8Google Scholar
  16. 16.
    Asano N, Ishiguro S, Sudo A (2012) Head positioning for reduction and stabilization of the cervical spine during anesthetic induction in a patient with subaxial Subluxation. J Neurosurg Anesthesiol 24:164–165Google Scholar
  17. 17.
    Maruyama K, Hirabayashi Y, Fujita A et al (2007) Cervical spine movement during laryngoscopy using the Airway Scope compared with the Macintosh laryngoscope. Anaesthesia 62:1050–1055Google Scholar
  18. 18.
    Prasarn ML, Conrad B, Rubery PT et al (2012) Comparison of4 airway devices on cervical spine alignment in a cadaver model with global ligamentous instability at C5-C6. Spine 37:476–481PubMedGoogle Scholar
  19. 19.
    Cooley WC, Graham JM Jr (1991) Down Syndrome an update and reviewforthe primary pediatrician. Clin Pediatr 30:233–253Google Scholar
  20. 20.
    Santamaria LB, Di Paola C, Mafrica F, Fodale V (2007) Preanesthetic evaluation and assessment ofchildren with Down’s Syndrome. Sei World J 7:242–251Google Scholar
  21. 21.
    Shapiro NL, Huang RY, Sangwan S et al (2000) Tracheal stenosis and congenital heart disease in patients with Down Syndrome: diagnostic approach and surgical options. Int J Pediatr Otorhinolaryngol 54:137–142PubMedGoogle Scholar
  22. 22.
    Rubens Figueroa J de, Pozzo Magana B del, Pablos Hach JL et al (2003) Heart malformations in children with Down Syndrome. Rev Esp Cardiol 56:894–899Google Scholar
  23. 23.
    FinesilverC (2002) A newage for childhood diseases. Down Syndrome. RN 65:43–48Google Scholar
  24. 24.
    <http://www.awmf.org/uploads/tx_>szleitlinien/019-012_S1_Prophyla-xe_der_infektioesen_Endokarditis_11-2007_11-2012.pdfGoogle Scholar
  25. 25.
    Bai W, Voepel-Lewis T, Malviya S (2010) Hemodynamic changes in children with Down Syndrome during and following inhalation induction of anesthesia with sevoflurane. J Clin Anesth 22:592–597PubMedGoogle Scholar
  26. 26.
    Kraemer FW, Stricker PA, Gurnaney HG et al (2010) Bradycardia during induction of anesthesia with sevoflurane in children with Down Syndrome. Anesth Anaig 111:1259–1263Google Scholar
  27. 27.
    Velik-Salchner C, Margreiter J, Wenzel V et al (2006) Anaesthesia for cardiac catheterization in children. Anaesthesist 55:1291–1298Google Scholar
  28. 28.
    Shott SR (2000) Down Syndrome: analysis of airway size and a guide for appropriate intubation. Laryngoscope 110:585–592PubMedGoogle Scholar
  29. 29.
    Bhattarai B, Kulkarni AH, Rao ST et al (2008) Anesthetic consideration in downs Syndrome a review. Nepal Med Coli J 10:199–203Google Scholar
  30. 30.
    Jong AL de, Sulek M, Nihill M et al (1997) Tenuous airway in children with trisomy 21. Laryngoscope 107:345–350PubMedGoogle Scholar
  31. 31.
    Guimaraes CV, Donnelly LF, Shott SR et al (2008) Relative rather than absolute macroglossia in patients with Down Syndrome: implications for treatment of obstructive sleep apnea. Pediatr Radiol 38:1062–1067PubMedGoogle Scholar
  32. 32.
    Asai T, Hirose T, Shingu K (2000) Failed tracheal intubation using a laryngoscope and intubating laryngeal mask. Can J Anaesth 47:325–328Google Scholar
  33. 33.
    McLean L, MacCormick J, Robb I et al (2003) Cilia ultrastructure in children with Down Syndrome. J Otolaryngol 32:379–383PubMedGoogle Scholar
  34. 34.
    Piatti G, Allegra L, Ambrosetti U et al (2001) Nasal eiliary funetion and ultrastructure in Down Syndrome. Laryngoscope 111:1227–1230PubMedGoogle Scholar
  35. 35.
    Cohen W (1996) Health care guidelines for individuals with Down Syndrome. Down Syndr Q 1:1 –11Google Scholar
  36. 36.
    Donnelly LF, Shott SR, LaRose CR et al (2004) Causes of persistent obstructive sleep apnea despite previous tonsillectomy and adenoidectomy in children with Down Syndrome as depicted on static and dynamic eine MRI. AJR Am J Roentgenol 183:17518–1Google Scholar
  37. 37.
    Marcus CL, KeensTG, Bautista DB et al (1991) Obstructive sleep apnea in children with Down Syndrome. Pediatrics 88:132–139Google Scholar
  38. 38.
    Southall DP, Stebbens VA, Mirza R et al (1987) Upper airway obstruetion with hypoxaemia and sleep disruption in Down Syndrome. Dev Med Child Neural 29:734–742Google Scholar
  39. 39.
    Uong EC, McDonough JM, Tayag-Kier CE et al (2001) Magnetic resonance imaging of the upper airway in children with Down Syndrome. Am J RespirCrit Care Med 163:731–736Google Scholar
  40. 40.
    Brouilette R, Hanson D, David R et al (1984) A diagnostic approach to suspected obstructive sleep apnea in children. J Pediatr 105:10–14PubMedGoogle Scholar
  41. 41.
    Li AM, Cheung A, Chan D et al (2006) Validation of a questionnaire Instrument for prediction of obstructive sleep apnea in Hong Kong Chinese children. Pediatr Pulmonol 41:1153116–0Google Scholar
  42. 42.
    McNamara F, Sullivan CE (2000) Obstructive sleep apnea in infants: relation to family history of sudden infant death Syndrome, apparent life-threatening events, and obstructive sleep apnea. J Pediatr 136:31832–3Google Scholar
  43. 43.
    Messner AH (2003) Treating pediatric patients with obstructive sleep disorders: an update. Otolaryngol Clin North Am 36:519–530PubMedGoogle Scholar
  44. 44.
    Whiteford L, Fleming P, Henderson AJ (2004) Who should have a sleep study for sleep related breathing disorders? Arch Dis Child 89:851–855PubMedPubMedCentralGoogle Scholar
  45. 45.
    Arias MA, Garcia-Rio F, Alonso-Fernandez A et al (2006) Pulmonary hypertension in obstructive sleep apnoea: effects of continuous positive airway pressure: a randomized, controlled cross-over study. Eur Heart J 27:1106–1113PubMedGoogle Scholar
  46. 46.
    Marcus CL, Ward SL, Mallory GB et al (1995) Use of nasal continuous positive airway pressure as treatment of childhood obstructive sleep apnea. J Pediatr 127:88–94PubMedGoogle Scholar
  47. 47.
    Schwengel DA, Sterni LMJunkel DE et al (2009) Perioperative management of children with obstructive sleep apnea. Anesth Anaig 109:607–5Google Scholar
  48. 48.
    Rachel Homer J, ElwoodT, Peterson D, Rampersad S (2007) Riskfactors for adverse events in children with colds emerging from anesthesia: a logistic regression. Paediatr Anaesth 17:154–161Google Scholar
  49. 49.
    Nakazawa K, Ikeda D, Ishikawa S, Makita K (2003) A case of difficult airway due to lingual tonsillar hypertrophy in a patient with Down’s Syndrome. Anesth Anaig 97:704–705Google Scholar
  50. 50.
    Brown JC (2002) The management of croup. BrMed Bull 61:189–202Google Scholar
  51. 51.
    Motoyama EK (1992) Anesthesia and the upper airway in infants and children. Int Anesthesiol Clin 30:17–19PubMedGoogle Scholar
  52. 52.
    Abbag Fl (2006) Congenital heart diseases and other major anomalies in patients with Down Syndrome. Saudi Med J 27:219–222PubMedGoogle Scholar
  53. 53.
    Freeman SB, Torfs CP, Romitti PA et al (2009) Congenital gastrointestinal defects in Down Syndrome: a report from the Atlanta and National Down Syndrome Projects. Clin Genet 75:180–184PubMedGoogle Scholar
  54. 54.
    Rohen JW, Lütjen-Drecoll E (2004) Funktionelle Embroyologie die Entwicklung der Funktionssysteme des menschlichen Organismus, 2. Überarb. und erw. Aufl. Schattauer, Stuttgart, S 91 ff.Google Scholar
  55. 55.
    Arya R, Kabra M, Gulati S (2011) Epilepsy in children with Down Syndrome. Epileptic Disord 13:1–7PubMedGoogle Scholar
  56. 56.
    Lima FA, Moreira-Filho CA, Ramos PL et al (2011) Decreased AIRE expression and global thymic hypofunetion in Down Syndrome. J Immunol 187:3422–3430PubMedGoogle Scholar
  57. 57.
    Popova G, Paterson WF, Brown A et al (2008) Hashimoto’s thyroiditis in Down’s Syndrome: dinical presentation and evolution. Horm Res 70:278–284PubMedGoogle Scholar
  58. 58.
    Murdoch JC, Ratdiffe WA, McLarty DG et al (1977) Thyroid funetion in adults with Down’s Syndrome. J Clin Endocrinol Metab 44:453–458PubMedGoogle Scholar
  59. 59.
    Malaga S, Pardo R, Malaga I et al (2005) Renal involvement in Down Syndrome. Pediatr Nephral 20:61461–7Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • K. Ihringer
    • 1
  • N. Russ
    • 1
  • A. Walther
    • 1
  • J.-H. Schiff
    • 1
  1. 1.Klinik für Anästhesiologie u. operative Intensivmedizin, Klinikum StuttgartKatharinenhospital, StuttgartStuttgart

Personalised recommendations