RSS-Feed abonnieren

DOI: 10.1055/s-0045-1811624
Translation and cross-cultural adaptation of a questionnaire for assessing hyperacusis in Williams syndrome

Abstract
Background
Williams syndrome (WS) is a genetic, multisystemic, and neurodevelopmental disorder. The prevalence of auditory hypersensitivity in WS is high, especially in childhood, with reports in the literature from 94 to 100% of individuals evaluated, which can generate significant impacts on their quality of life. Therefore, the existence of instruments for screening hyperacusis that are easy and quick to apply for use in clinical routine is essential.
Objective
To translate and perform the cross-cultural adaptation of the Hyperacusis Screening Questionnaire into Brazilian Portuguese.
Methods
A questionnaire concerning auditory hypersensitivity in WS was translated by two translators who are fluent in English. After the synthesis of the translations, back-translation was performed to analyze similarity, a meeting of the expert committee for semantic and linguistic adaptation of the instrument was held, and pretesting and validation of content and appearance was conducted.
Results
The translated and adapted version of the questionnaire was similar to the original regarding general and referential meaning. Answers from 324 families of individuals with WS were included, 85.2% of those reported hyperacusis as a ongoing symptom.
Conclusion
The translation and cross-cultural adaptation of the questionnaire were performed according to the methodology recommended in the literature, with necessary equivalences being made for the Brazilian reality. The instrument developed and tested in the present study proved to be useful in screening for hyperacusis in the population with WS, allowing its use in future investigations on the subject and comparison with other studies.
Authors' Contributions
Conceptualization: AGS, CGM; Data curation: JAN, LPM, LAFS; Formal analysis: LAFS; Investigation: JAN, LPM; Methodology: AGS, CGM; Project administration: AGS, CGM; Supervision: AGS, CGM; Visualization: AGS, CGM; Writing – original draft: JAN, LPM; Writing – review & editing: JAN, LPM, LAFS, AGS, CGM.
Data Availability Statement
To protect sensitive data about the participants, no further data will only be available.
Editor-in-Chief: Hélio A. G. Teive. https://orcid.org/0000-0003-2305-1073.
Associate Editor: Aline Chacon Pereira. https://orcid.org/0000-0002-2287-4038.
Publikationsverlauf
Eingereicht: 20. März 2025
Angenommen: 28. Juni 2025
Artikel online veröffentlicht:
08. September 2025
© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)
Thieme Revinter Publicações Ltda.
Rua Rego Freitas, 175, loja 1, República, São Paulo, SP, CEP 01220-010, Brazil
Jacqueline Aquino do Nascimento, Lucas Pinto Mielle, Liliane Aparecida Fagundes Silva, Alessandra Giannella Samelli, Carla Gentile Matas. Translation and cross-cultural adaptation of a questionnaire for assessing hyperacusis in Williams syndrome. Arq Neuropsiquiatr 2025; 83: s00451811624.
DOI: 10.1055/s-0045-1811624
-
References
- 1 Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr 1988; 113 (02) 318-326
- 2 Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol 2002; 17 (04) 269-271
- 3 Jackowski AP, Rando K, Maria de Araújo C, Del Cole CG, Silva I, Lacerda ALTd. Brain abnormalities in Williams syndrome: a review of structural and functional magnetic resonance imaging findings. Eur J Paediatr Neurol 2009; 13 (04) 305-316
- 4 Marler JA, Sitcovsky JL, Mervis CB, Kistler DJ, Wightman FL. Auditory function and hearing loss in children and adults with Williams syndrome: cochlear impairment in individuals with otherwise normal hearing. Am J Med Genet C Semin Med Genet 2010; 154C (02) 249-265
- 5 Zarchi O, Attias J, Raveh E, Basel-Vanagaite L, Saporta L, Gothelf D. A comparative study of hearing loss in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes. J Pediatr 2011; 158 (02) 301-306
- 6 Silva LAF, Kawahira RSH, Kim CA, Matas CG. Audiological profile and cochlear functionality in Williams syndrome. CoDAS 2022; 34 (03) e20210041
- 7 Nascimento JAD, Silva LAF, Samelli AG, Matas CG. Peripheral Auditory Pathway and ABR Characterization in Adults with Williams Syndrome. Int Arch Otorhinolaryngol 2024; 28 (03) e502-e508
- 8 Kielty CM. Elastic fibres in health and disease. Expert Rev Mol Med 2006; 8 (19) 1-23
- 9 Matsumoto N, Kitani R, Kalinec F. Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndrome. Commun Integr Biol 2011; 4 (02) 208-210
- 10 Paglialonga A, Barozzi S, Brambilla D, Soi D, Cesarani A, Spreafico E, Tognola G. Analysis of subtle auditory dysfunctions in young normal-hearing subjects affected by Williams syndrome. Int J Pediatr Otorhinolaryngol 2014; 78 (11) 1861-1865
- 11 Canales CP, Wong ACY, Gunning PW, Housley GD, Hardeman EC, Palmer SJ. The role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome. Eur J Hum Genet 2015; 23 (06) 774-780
- 12 Jastreboff PJ, Jastreboff MM. Tinnitus Retraining Therapy (TRT) as a method for treatment of tinnitus and hyperacusis patients. J Am Acad Audiol 2000; 11 (03) 162-177
- 13 Levitin DJ, Cole K, Lincoln A, Bellugi U. Aversion, awareness, and attraction: investigating claims of hyperacusis in the Williams syndrome phenotype. J Child Psychol Psychiatry 2005; 46 (05) 514-523
- 14 Zarchi O, Attias J, Gothelf D. Auditory and visual processing in Williams syndrome. Isr J Psychiatry Relat Sci 2010; 47 (02) 125-131
- 15 Attias J. New findings on hyperacusis in Williams syndrome. ENT Audiol News 2013; 21: 76-78
- 16 Klein AJ, Armstrong BL, Greer MK, Brown III FR. Hyperacusis and otitis media in individuals with Williams syndrome. J Speech Hear Disord 1990; 55 (02) 339-344
- 17 Nigam A, Samuel PR. Hyperacusis and Williams syndrome. J Laryngol Otol 1994; 108 (06) 494-496
- 18 Don AJ, Schellenberg EG, Rourke BP. Music and language skills of children with Williams syndrome. Child Neuropsychol 1999; 5 (03) 154-70
- 19 Gothelf D, Farber N, Raveh E, Apter A, Attias J. Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities. Neurology 2006; 66 (03) 390-395
- 20 Johnson LB, Comeau M, Clarke KD. Hyperacusis in Williams syndrome. J Otolaryngol 2001; 30 (02) 90-92
- 21 Marriage J, Barnes NM. Is central hyperacusis a symptom of 5-hydroxytryptamine (5-HT) dysfunction?. J Laryngol Otol 1995; 109 (10) 915-921
- 22 Baguley DM, McFerran DJ. Hyperacusis and Disorders of Loudness Perception. Textbook Tinnitus 2011; 13–-23
- 23 Ke J, Du Y, Tyler RS, Perreau A, Mancini PC. Complaints of People with Hyperacusis. J Am Acad Audiol 2020; 31 (08) 553-558
- 24 Fackrell K, Sereda M, Smith S, Sheldrake J, Hoare DJ. What Should Be Considered When Assessing Hyperacusis? A Qualitative Analysis of Problems Reported by Hyperacusis Patients. Brain Sci 2022; 12 (12) 1615