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01.03.2012 | Original Article

Hearing loss in patients with mucopolysaccharidosis II: Data from HOS – the Hunter Outcome Survey

verfasst von: Annerose Keilmann, Todsaporn Nakarat, Iain A. Bruce, David Molter, Gunilla Malm, on behalf of the HOS Investigators

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 2/2012

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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.

Al Sawaf S, Mayatepek E, Hoffmann B (2008) Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. J Inherit Metab Dis 31:473–480PubMedCrossRef

Baehner F, Schmiedeskamp C, Krummenauer F et al (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28:1011–1017PubMedCrossRef

Downs AT, Crisp T, Ferretti G (1995) Hunter’s syndrome and oral manifestations: a review. Pediatr Dent 17:98–100PubMed

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 99:29–41PubMedCrossRef

Hayes E, Babin R, Platz C (1980) The otologic manifestations of mucopolysaccharidoses. Am J Otol 2:65–69PubMed

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 10:286–299PubMedCrossRef

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 118:933–936PubMedCrossRef

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 32:739–744PubMedCrossRef

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 43:179–188PubMedCrossRef

Martin R, Beck M, Eng C et al (2008) Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 121:e377–e386PubMedCrossRef

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 1:148–150CrossRef

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

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 12:816–822PubMedCrossRef

Motamed M, Thorne S, Narula A (2000) Treatment of otitis media with effusion in children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 53:121–124PubMedCrossRef

Muenzer J (2004) The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 144:S27–S34PubMedCrossRef

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 8:465–473PubMedCrossRef

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 48:473–485PubMedCrossRef

Peck JE (1984) Hearing loss in Hunter’s syndrome: mucopolysaccharidosis II. Ear Hear 5:243–246PubMedCrossRef

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 69:589–595PubMedCrossRef

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 74:27–31PubMedCrossRef

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 10:508–516PubMedCrossRef

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 8:11–30PubMedCrossRef

Young ID, Harper PS (1981) Psychosocial problems in Hunter’s syndrome. Child Care Health Dev 7:201–209PubMedCrossRef

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 25:481–489PubMedCrossRef

Titel: Hearing loss in patients with mucopolysaccharidosis II: Data from HOS – the Hunter Outcome Survey
verfasst von: Annerose Keilmann
Todsaporn Nakarat
Iain A. Bruce
David Molter
Gunilla Malm
on behalf of the HOS Investigators
Publikationsdatum: 01.03.2012
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 2/2012
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-011-9378-5

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Hearing loss in patients with mucopolysaccharidosis II: Data from HOS – the Hunter Outcome Survey