Skip to main content
SpringerLink
Log in

Prevalence of obstructive sleep apnea in patients with mucopolysaccharidosis types I, II, and VI in a reference center

  • Original Article
  • Published:
Sleep and Breathing Aims and scope Submit manuscript

Abstract

Purpose

Mucopolysaccharidosis (MPS) encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans in organs and tissues. Respiratory disorders occur in all MPS types. In these patients, the prevalence of obstructive sleep apnea syndrome (OSAS), which may confer additional morbidity, remains overlooked, and the results of the few existing studies are controversial. The present study aimed to characterize the prevalence of OSAS in patients with MPS types I, II, and VI in a reference center.

Methods

Forty-five patients with MPS (I, n = 17; II, n = 16; and VI; n = 12) in the Centro de Referência em Erros Inatos do Metabolismo, who underwent full-night polysomnography, were enrolled in a retrospective study. Demographic data and clinical history were collected from medical records of the first medical consultation.

Results

The prevalence of OSAS in patients with MPS was 69.8 %. MPS type I patients seemed to be more susceptible to OSA-induced hypoxemia, as indicated by reduced mean SpO2 levels during both NREM and rapid eye movement sleep as well as during SpO2 nadir.

Conclusions

Patients with MPS displayed a high prevalence of OSAS, often with moderate to high severity. Together, our results reinforce the need for OSAS screening in all patients with MPS.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Lakhotia S, Sharma A, Shrivastava G, Jain S (2004) Maroteaux-Lamy syndrome. Indian J Pediatr 71:933–935

    Article  PubMed  Google Scholar 

  2. Muenzer J (2004) The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 144:S27–S34

    Article  CAS  PubMed  Google Scholar 

  3. Neufeld EF, Muenzer J (2001) The mucopolysaccharidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3421–3452

    Google Scholar 

  4. Lin HY, Lin SP, Chuang CK et al (2009) Incidence of the mucopolysaccharidosis in Twain, 1984–2004. Am J Med Genet 149:960–964

    Article  Google Scholar 

  5. Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281:249–254

    Article  CAS  PubMed  Google Scholar 

  6. Poupetová H, Ledvinová J, Berná L, Dvoráková L, Kozich V, Elleder M (2010) The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 33:387–396

    Article  PubMed Central  PubMed  Google Scholar 

  7. John A, Fagondes S, Schwartz I et al (2011) Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI. Am J Med Genet 155A:1546–1551

    Article  PubMed  Google Scholar 

  8. Leighton SE, Papsin B, Vellodi A, Dinwiddie R, Lane R (2001) Disordered breathing during sleep in patients with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 58:127–138

    Article  CAS  PubMed  Google Scholar 

  9. Lin HY, Chen MR, Lin CC et al (2010) Polysomnographic characteristics in patients with mucopolysaccharidoses. Pediatr Pulmonol 45:1205–1212

    Article  PubMed  Google Scholar 

  10. Nashed A, Al-Saleh S, Gibbons J et al (2009) Sleep-related breathing in children with mucopolysaccharidosis. J Inherit Metab Dis 32:544–550

    Article  CAS  PubMed  Google Scholar 

  11. Santamaria F, Andreucci MV, Parenti G et al (2007) Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. J Inherit Metab Dis 30:743–749

    Article  CAS  PubMed  Google Scholar 

  12. Yeung AH, Cowan MJ, Horn B, Rosbe KW (2009) Airway management in children with mucopolysaccharidoses. Arch Otolaryngol Head Neck Surg 135:73–79

    Article  PubMed  Google Scholar 

  13. American Thoracic Society (1996) Standards and indications for cardiopulmonary sleep studies in children. Am J Respir Crit Care Med 153:866–878

    Article  Google Scholar 

  14. Amin RS, Kimball TR, Kalra M et al (2005) Left ventricular function in children with sleep-disordered breathing. Am J Cardiol 95:801–804

    Article  PubMed  Google Scholar 

  15. Li AM, Au CT, Sung RY et al (2008) Ambulatory blood pressure in children with obstructive sleep apnoea: a community based study. Thorax 63:803–809

    Article  CAS  PubMed  Google Scholar 

  16. Mitchell RB, Kelly J (2007) Behavioral changes in children with mild sleep-disordered breathing or obstructive sleep apnea after adenotonsillectomy. Laryngoscope 117:1685–1688

    Article  PubMed  Google Scholar 

  17. Muenzer J, Wraith JE, Clarke LA et al (2009) Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 123:19–29

    Article  PubMed  Google Scholar 

  18. Orliaguet O, Pépin JL, Veale D, Kelkel E, Pinel N, Lévy P (1999) Hunter’s syndrome and associated sleep apnoea cured by CPAP and surgery. Eur Respir J 13:1195–1197

    Article  CAS  PubMed  Google Scholar 

  19. Semenza GL, Pyeritz RE (1988) Respiratory complications of mucopolysaccharide storage disorders. Medicine (Baltimore) 67:209–219

    Article  CAS  Google Scholar 

  20. Rechtschtaffen A, Kales A (1968) Manual of standardized terminology, techniques and scoring system for sleep stages of human subjects. UCLA Brain Information Service/Brain Research Institute, Los Angeles

    Google Scholar 

  21. American Academy of Sleep Medicine (1999) Sleep-related breathing disorders in adults: recommendations for syndrome definition and measurement techniques in clinical research. American Academy of Sleep Medicine Task Force. SLEEP 22:667–689

    Google Scholar 

  22. American Sleep Disorders Association (ASDA) (1992) EEG arousals: scoring rules and examples: a preliminary report from the sleep disorders Atlas Task Force of the American Sleep Disorders Association. SLEEP 2:173–184

    Google Scholar 

  23. Iber C, Ancoli-Israel S, Cheeson A, Quan SF, for the American Academy of Sleep Medicine (2007) The AASM manual for scoring of sleep associated events: rules, terminology and technical specifications. American Academy of Sleep Medicine, Westchester

    Google Scholar 

  24. Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP (2005) Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 69:589–595

    Article  CAS  PubMed  Google Scholar 

  25. Martins AM, Dualibi AP, Norato D et al (2009) Guidelines for the management of mucopolysaccharidosis type I. J Pediatr 155:S32–S46

    Article  PubMed  Google Scholar 

  26. Ong KC, Clerk AA (1998) Comparison of the severity of sleep-disordered breathing in Asian and Caucasian patients seen at a sleep disorders center. Respir Med 92:843–848

    Article  CAS  PubMed  Google Scholar 

  27. Rao A, Tey BH, Ramalingam G, Poh AG (2009) Obstructive sleep apnoea (OSA) patterns in bariatric surgical practice and response of OSA to weight loss after laparoscopic adjustable gastric banding (LAGB). Ann Acad Med Singap 38:587

    CAS  PubMed  Google Scholar 

  28. Villaneuva AT, Buchanan PR, Yee BJ, Grunstein RR (2005) Ethnicity and obstructive sleep apnoea. Sleep Med Rev 9:419–436

    Article  PubMed  Google Scholar 

  29. Wooten WI 3rd, Muenzer J, Vaughn BV, Muhlebach MS (2013) Relationship of sleep to pulmonary function in mucopolysaccharidosis II. J Pediatr 162:1210–1215

    Article  PubMed Central  PubMed  Google Scholar 

  30. Katz ES, Greene MG, Carson KA et al (2002) Night-to-night variability of polysomnography in children with suspected obstructive sleep apnea. J Pediatr 140:589–594

    Article  PubMed  Google Scholar 

  31. Scholle S, Scholle HC, Kemper A et al (2003) First night effect in children and adolescents undergoing polysomnography for sleep-disordered breathing. Clin Neurophysiol 114:2138–2145

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgement

Funding for this study was provided by Instituto de Genética e Erros Inatos do Metabolismo (IGEIM), Biomarin, Shire and Associação Fundo de Incentivo à Pesquisa (AFIP). ST is a recipient of the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) fellowship. The English language in this manuscript has been proofread and edited by Elsevier, but we are entirely responsible for the scientific content of the paper. The authors would like to thank the Centro de Genética em Erros Inatos do Metabolismo (CREIM) team for their help and IGEIM for support. The authors also thank Doctors Cecília Micheletti, Fabíola Ressutti, Flavia B. Piazzon, Marco Troques, Patrícia Feliciano, and Tânia Secches and the neurologists Carmen Silvia C. Mendes and Maret H. Rand for providing care and assistance to the patients.

Conflict of interest

The authors declare that they have no conflicts of interest.

Author information

Authors and Affiliations

  1. Instituto do Sono, Rua Marselhesa, 500, 14º andar, 04020-060, São Paulo, Brazil

    Gustavo A. Moreira

  2. Centro de em Erros Inatos do Metabolismo (CREIM), Universidade Federal de São Paulo, Rua Coronel Lisboa, 957, 04020-041, São Paulo, Brazil

    Sandra O. Kyosen, Camilla L. Patti & Ana Maria Martins

  3. Departamento de Psicobiologia, Universidade Federal de São Paulo, Rua Napoleão de Barros, 925, São Paulo, SP, Brazil

    Sergio Tufik

Authors
  1. Gustavo A. Moreira
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Sandra O. Kyosen
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Camilla L. Patti
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ana Maria Martins
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Sergio Tufik
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Gustavo A. Moreira.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Moreira, G.A., Kyosen, S.O., Patti, C.L. et al. Prevalence of obstructive sleep apnea in patients with mucopolysaccharidosis types I, II, and VI in a reference center. Sleep Breath 18, 791–797 (2014). https://doi.org/10.1007/s11325-014-0944-6

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11325-014-0944-6

Keywords

Search

Navigation