Abstract
Background
Subjectively reported hearing loss is a common feature of mucopolysaccharidosis II (MPS II, Hunter syndrome). This study provides an epidemiological description of hearing loss and other otolaryngological manifestations reported by patients registered in the Hunter Outcome Survey (HOS), an international registry of patients with MPS II.
Methods
Data about ear signs and symptoms were available for 554 of the 605 patients alive at HOS entry. The degree of hearing loss for 162 pure-tone audiograms (PTAs) from 83 patients was classified by independent interpreters using both the age-specific International Institute of Standardization (ISO) 7029 standard and the age-independent World Health Organization (WHO) clinical guidelines. A linear regression analysis using cross-sectional data was conducted to investigate the relationship between hearing loss and age.
Results
The most prevalent otolaryngological manifestations and interventions reported were otitis (either acute otitis media or chronic otitis media [72%]), hearing loss (67%), insertion of ventilation tubes (50%), adenoidectomy (47%), and hearing aids (41%). According to the ISO standard, only one patient out of the 83 with audiogram data in HOS had normal hearing in both ears at all time points. According to the WHO classification, 16% had normal hearing; hearing loss was mild in 24%, moderate in 31%, severe in 22%, and profound in 7%. In the linear regression analysis, the hearing threshold in the cohort increased with age at an estimated rate of approximately 1 dB per year.
Conclusions
Hearing impairment is common in MPS II. Early otolaryngological evaluation and intervention is recommended.
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References
Al Sawaf S, Mayatepek E, Hoffmann B (2008) Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. J Inherit Metab Dis 31:473–480
Baehner F, Schmiedeskamp C, Krummenauer F et al (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28:1011–1017
Downs AT, Crisp T, Ferretti G (1995) Hunter’s syndrome and oral manifestations: a review. Pediatr Dent 17:98–100
Friedmann I, Spellacy E, Crow J, Watts RW (1985) Histopathological studies of the temporal bones in Hurler's disease [mucopolysaccharidosis (MPS) IH]. J Laryngol Otol 99:29–41
Hayes E, Babin R, Platz C (1980) The otologic manifestations of mucopolysaccharidoses. Am J Otol 2:65–69
Hopkins R, Watson JA, Jones JH, Walker M (1973) Two cases of Hunter’s syndrome – the anaesthetic and operative difficulties in oral surgery. Br J Oral Surg 10:286–299
International Organization for Standardization (2000). Acoustics - Statistical distribution of hearing thresholds as a function of age, ISO 7029:2000. Retrieved from http://www.iso.org on 11-12-10.
Jassar P, Coatesworth A, Strachan DR (2004) Long-term ventilation of the middle ear using a subannular tympanotomy technique: a follow-up study. J Laryngol Otol 118:933–936
Keilmann A, Hajioff D, Ramaswami U, Investigators FOS (2009) Ear symptoms in children with Fabry disease: data from the Fabry outcome survey. J Inherit Metab Dis 32:739–744
Komura Y, Kaga K, Ogawa Y, Yamaguchi Y, Tsuzuku T, Suzuki JI (1998) ABR and temporal bone pathology in Hurler’s disease. Int J Pediatr Otorhinolaryngol 43:179–188
Martin R, Beck M, Eng C et al (2008) Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 121:e377–e386
Mazzoli M, Van Camp G, Newton V, Giarbini N, Declau F, Parving A (2003) Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment. Audiolog Med 1:148–150
Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281:249–254
Mendelsohn N, Harmatz P, Bodamer O et al (2010) Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey (HOS). Genet Med 12:816–822
Motamed M, Thorne S, Narula A (2000) Treatment of otitis media with effusion in children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 53:121–124
Muenzer J (2004) The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 144:S27–S34
Muenzer J, Wraith JE, Beck M et al (2006) A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 8:465–473
Napiontek U, Keilmann A (2006) Hearing impairment in patients with mucopolysaccharidoses. Acta Paediatrica Suppl 451:113–117
Pascolini D, Smith A (2009) Hearing impairment in 2008: a compilation of available epidemiological studies. Int J Audiol 48:473–485
Peck JE (1984) Hearing loss in Hunter’s syndrome: mucopolysaccharidosis II. Ear Hear 5:243–246
Sagemann A, Deuster D, Knief A, Am Zehnhoff-Dinnesen A, Schmidt CM. (2009) Vorhersagekraft der Notched-Noise-BERA für das frequenzspezifische Hörvermögen. 26. Wiss. JT der DGPP, 11.09. - 13.09.2009, Leipzig. Retrieved from http://www.egms.de/static/en/meetings/dgpp2009/09dgpp09.shtml on 11-12-10.
Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP (2005) Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 69:589–595
Walker RW, Darowski M, Morris P, Wraith JE (1994) Anaesthesia and mucopolysaccharidoses. A review of airway problems in children Anaesthesia 49:1078–1084
Wold SM, Derkay CS, Darrow DH, Proud V (2010) Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 74:27–31
World Health Organization (1999) WHO ear and hearing disorders survey protocol for a population-based survey of prevalence and causes of deafness and hearing impairment and other ear disorders. Retrieved from http://whqlibdoc.who.int/hq/1999/WHO_PBD_PDH_99.8(1).pdf on 04-14-11.
Wraith JE, Beck M, Giugliani R et al (2008) Initial report from the Hunter Outcome Survey. Genet Med 10:508–516
Yoshinaga-Itano C (2003) From screening to early identification and intervention: discovering predictors to successful outcomes for children with significant hearing loss. J Deaf Stud Deaf Educ 8:11–30
Young ID, Harper PS (1981) Psychosocial problems in Hunter’s syndrome. Child Care Health Dev 7:201–209
Young ID, Harper PS (1983) The natural history of the severe form of Hunter’s syndrome: a study based on 52 cases. Dev Med Child Neurol 25:481–489
Acknowledgements
The data in this study were provided by the Global HOS Investigators. Editorial assistance to the authors was funded by Shire HGT and provided by Jillian Lokere, MS of the Curry Rockefeller Group, Tarrytown, NY. The authors received no payment for their work.
Competing interest:
The HOS database is under the independent control of the HOS Boards/Global Executive Committee. Data collection and statistical analysis are supported by Shire Human Genetic Therapies (HGT). The sponsor played no role in the interpretation of data or writing of the report.
A. Keilmann has received travel grants and speakers honorarium from Shire, Genzyme and BioMarin.
T. Nakarat has no conflicts of interest to declare.
I.A. Bruce has received a travel grant and honorarium to give an invited lecture by Shire.
D. Molter has received travel grants and speakers honorarium from Shire.
G. Malm has received travel grants and speakers honorarium from Shire.
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Communicated by: Ed Wraith
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Keilmann, A., Nakarat, T., Bruce, I.A. et al. Hearing loss in patients with mucopolysaccharidosis II: Data from HOS – the Hunter Outcome Survey. J Inherit Metab Dis 35, 343–353 (2012). https://doi.org/10.1007/s10545-011-9378-5
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DOI: https://doi.org/10.1007/s10545-011-9378-5