Successful upper airway stimulation therapy in an adult Down syndrome patient with severe obstructive sleep apnea

  • Eli Van de Perck
  • Jolien Beyers
  • Marijke Dieltjens
  • Sara Op de Beeck
  • Johan Verbraecken
  • Paul Van de Heyning
  • An Boudewyns
  • Olivier M. VandervekenEmail author
Sleep Breathing Physiology and Disorders • Short Communication



The aim of this study was to report on the successful application of upper airway stimulation (UAS) therapy in an adult Down syndrome (DS) patient with severe obstructive sleep apnea (OSA) and continuous positive airway pressure (CPAP) intolerance.


Baseline polysomnography (PSG) in a 23-year-old male OSA patient (body mass index (BMI) 24.4 kg/m2) revealed an apnea/hypopnea index (AHI) of 61.5 events/h and oxygen desaturation index (ODI) of 39.7 events/h. Based on the clinical examination, PSG and drug-induced sleep endoscopy, the patient fulfilled the formal inclusion criteria for UAS therapy: AHI between 15 and 65 events/h, BMI < 32 kg/m2, and no complete concentric collapse at the level of the velopharynx.


Implantation of the hypoglossal nerve stimulator in the adult patient with DS resulted in a substantial subjective as well as objective improvement of OSA (63 to 81% decrease in AHI and 77% decrease in ODI), translating into an overall satisfactory outcome.


Research on the long-term effectiveness of UAS therapy in a larger group of patients with DS is needed. However, based on the available literature and our presented case, respiration-synchronized electrostimulation of the hypoglossal nerve using UAS therapy may have a potential value in well-selected OSA patients with DS who are non-compliant to CPAP therapy.


Sleep-disordered breathing Hypoglossal nerve stimulation Treatment Surgery Down syndrome 



Olivier Vanderveken holds a Senior Clinical Investigator Fellowship from the Research Foundation—Flanders (FWO)—2016–2021. Marijke Dieltjens holds a Postdoctoral fellowship at Research Foundation—Flanders (FWO)—12H4516N.

Compliance with ethical standards

Conflict of interest

Olivier Vanderveken has the following potential conflicts of interest: research support and lecture fees from Inspire Medical Systems, research grant from and consultancy for Philips Respironics, research grant and lecture fees from Somnomed, consultancy for Nyxoah, consultancy for Galvani, research support from ReVent, research support from Nightbalance. The other authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Ethical approval

All procedures performed were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Patient consent statement

The patient guardian has consented to the submission of the paper for submission to the journal.


  1. 1.
    Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, Correa A, N National Birth Defects Prevention (2010) Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol 88(12):1008–1016. CrossRefPubMedGoogle Scholar
  2. 2.
    Maris M, Verhulst S, Wojciechowski M, Van de Heyning P, Boudewyns A (2016) Prevalence of obstructive sleep apnea in children with Down syndrome. Sleep 39(3):699–704. CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Trois MS, Capone GT, Lutz JA, Melendres MC, Schwartz AR, Collop NA, Marcus CL (2009) Obstructive sleep apnea in adults with Down syndrome. J Clin Sleep Med 5(4):317–323PubMedPubMedCentralGoogle Scholar
  4. 4.
    Lott IT, Dierssen M (2010) Cognitive deficits and associated neurological complications in individuals with Down’s syndrome. Lancet Neurol 9(6):623–633. CrossRefPubMedGoogle Scholar
  5. 5.
    Lal C, White DR, Joseph JE, van Bakergem K, LaRosa A (2015) Sleep-disordered breathing in Down syndrome. Chest 147(2):570–579. CrossRefPubMedGoogle Scholar
  6. 6.
    Epstein LJ, Kristo D, Strollo PJ Jr, Friedman N, Malhotra A, Patil SP, Ramar K, Rogers R, Schwab RJ, Weaver EM, Weinstein MD, M Adult Obstructive Sleep Apnea Task Force of the American Academy of Sleep (2009) Clinical guideline for the evaluation, management and long-term care of obstructive sleep apnea in adults. J Clin Sleep Med 5(3):263–276PubMedGoogle Scholar
  7. 7.
    Yoshida K (1999) Elastic retracted oral appliance to treat sleep apnea in mentally impaired patients and patients with neuromuscular disabilities. J Prosthet Dent 81(2):196–201CrossRefGoogle Scholar
  8. 8.
    Strollo PJ Jr, Soose RJ, Maurer JT, de Vries N, Cornelius J, Froymovich O, Hanson RD, Padhya TA, Steward DL, Gillespie MB, Woodson BT, Van de Heyning PH, Goetting MG, Vanderveken OM, Feldman N, Knaack L, Strohl KP, ST Group (2014) Upper-airway stimulation for obstructive sleep apnea. N Engl J Med 370(2):139–149. CrossRefPubMedGoogle Scholar
  9. 9.
    Safiruddin F, Vanderveken OM, de Vries N, Maurer JT, Lee K, Ni Q, Strohl KP (2015) Effect of upper-airway stimulation for obstructive sleep apnoea on airway dimensions. Eur Respir J 45(1):129–138. CrossRefPubMedGoogle Scholar
  10. 10.
    Van de Heyning PH, Badr MS, Baskin JZ, Cramer Bornemann MA, De Backer WA, Dotan Y, Hohenhorst W, Knaack L, Lin HS, Maurer JT, Netzer A, Odland RM, Oliven A, Strohl KP, Vanderveken OM, Verbraecken J, Woodson BT (2012) Implanted upper airway stimulation device for obstructive sleep apnea. Laryngoscope 122(7):1626–1633. CrossRefPubMedGoogle Scholar
  11. 11.
    Diercks GR, Keamy D, Kinane TB, Skotko B, Schwartz A, Grealish E, Dobrowski J, Soose R, Hartnick CJ (2016) Hypoglossal nerve stimulator implantation in an adolescent with Down syndrome and sleep apnea. Pediatrics 137(5):e20153663. CrossRefPubMedGoogle Scholar
  12. 12.
    Diercks GR, Wentland C, Keamy D, Kinane TB, Skotko B, de Guzman V, Grealish E, Dobrowski J, Soose R, Hartnick CJ (2017) Hypoglossal nerve stimulation in adolescents with Down syndrome and obstructive sleep apnea. JAMA Otolaryngol Head Neck Surg.
  13. 13.
    Bowe SN, Diercks GR, Hartnick CJ (2017) Modified surgical approach to hypoglossal nerve stimulator implantation in the pediatric population. Laryngoscope 128:1490–1492. CrossRefPubMedGoogle Scholar
  14. 14.
    van Maanen JP, Meester KA, Dun LN, Koutsourelakis I, Witte BI, Laman DM, Hilgevoord AA, de Vries N (2013) The sleep position trainer: a new treatment for positional obstructive sleep apnoea. Sleep Breath 17(2):771–779. CrossRefPubMedGoogle Scholar
  15. 15.
    Beyers J, Dieltjens M, Kastoer C, Opdebeeck L, Boudewyns AN, De Volder I, Van Gastel A, Verbraecken JA, De Backer WA, Braem MJ, Van de Heyning PH, Vanderveken OM (2018) Evaluation of a trial period with a sleep position trainer in patients with positional sleep apnea. J Clin Sleep Med 14:575–583CrossRefGoogle Scholar
  16. 16.
    De Vito A, Carrasco Llatas M, Vanni A, Bosi M, Braghiroli A, Campanini A, de Vries N, Hamans E, Hohenhorst W, Kotecha BT, Maurer J, Montevecchi F, Piccin O, Sorrenti G, Vanderveken OM, Vicini C (2014) European position paper on drug-induced sedation endoscopy (DISE). Sleep Breath 18(3):453–465. CrossRefPubMedGoogle Scholar
  17. 17.
    Heiser C, Thaler E, Boon M, Soose RJ, Woodson BT (2016) Updates of operative techniques for upper airway stimulation. Laryngoscope 126:S12–S16. CrossRefPubMedGoogle Scholar
  18. 18.
    Vanderveken OM, Beyers J, Op de Beeck S, Dieltjens M, Willemen M, Verbraecken JA, De Backer WA, Van de Heyning PH (2017) Development of a clinical pathway and technical aspects of upper airway stimulation therapy for obstructive sleep apnea. Front Neurosci 11:523. CrossRefPubMedPubMedCentralGoogle Scholar
  19. 19.
    Maris M, Verhulst S, Saldien V, Van de Heyning P, Wojciechowski M, Boudewyns A (2016) Drug-induced sedation endoscopy in surgically naive children with Down syndrome and obstructive sleep apnea. Sleep Med 24:63–70. CrossRefGoogle Scholar
  20. 20.
    Oliven A, O'Hearn DJ, Boudewyns A, Odeh M, De Backer W, van de Heyning P, Smith PL, Eisele DW, Allan L, Schneider H, Testerman R, Schwartz AR (2003) Upper airway response to electrical stimulation of the genioglossus in obstructive sleep apnea. J Appl Physiol 95(5):2023–2029. CrossRefPubMedGoogle Scholar
  21. 21.
    Woodson BT, Strohl KP, Soose RJ, Gillespie MB, Maurer JT, de Vries N, Padhya TA, Badr MS, Lin HS, Vanderveken OM, Mickelson S, Strollo PJ Jr (2018) Upper airway stimulation for obstructive sleep apnea: 5-year outcomes. Otolaryngol Head Neck Surg 194599818762383:194–202. CrossRefGoogle Scholar
  22. 22.
    Vanderveken OM, Maurer JT, Hohenhorst W, Hamans E, Lin HS, Vroegop AV, Anders C, de Vries N, Van de Heyning PH (2013) Evaluation of drug-induced sleep endoscopy as a patient selection tool for implanted upper airway stimulation for obstructive sleep apnea. J Clin Sleep Med 9(5):433–438. CrossRefPubMedPubMedCentralGoogle Scholar
  23. 23.
    Beyers J, Dieltjens M, Vonk PE, Ravesloot MJ, Willemen M, Verbraecken JA, Van de Heyning PH, de Vries N, Vanderveken OM (2018) Prevalence and clinical significance of positional obstructive sleep apnea in patients treated with upper airway stimulation therapy. Sleep Breath. abstract International Sleep Surgery Society Meeting, Munich, Germany, April 5-7, 2018Google Scholar

Copyright information

© Springer Nature Switzerland AG 2018

Authors and Affiliations

  • Eli Van de Perck
    • 1
    • 2
  • Jolien Beyers
    • 1
    • 2
  • Marijke Dieltjens
    • 1
    • 2
  • Sara Op de Beeck
    • 1
    • 2
  • Johan Verbraecken
    • 3
    • 4
  • Paul Van de Heyning
    • 1
    • 2
  • An Boudewyns
    • 1
    • 2
  • Olivier M. Vanderveken
    • 1
    • 2
    • 3
    • 5
    Email author return OK on get
  1. 1.Faculty of Medicine and Health SciencesUniversity of AntwerpWilrijkBelgium
  2. 2.Department of Otorhinolaryngology, Head and Neck SurgeryAntwerp University HospitalEdegemBelgium
  3. 3.Multidisciplinary Sleep Disorders CentreAntwerp University HospitalEdegemBelgium
  4. 4.Department of PulmonologyAntwerp University HospitalEdegemBelgium
  5. 5.Department of ENT, Head and Neck Surgery, Faculty of Medicine and Health SciencesUniversity of Antwerp, Antwerp University HospitalEdegemBelgium

Personalised recommendations