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Orphanet Journal of Rare Diseases

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Open Access 01-12-2024 | Turner's Syndrome | Research

The impact of amplification on quality of life in women with Turner syndrome

Authors: Lauren Mann, Lindsey VanLooy

Published in: Orphanet Journal of Rare Diseases | Issue 1/2024

Abstract

Background

Individuals with Turner syndrome (TS, ORPHA 881) experience barriers in communication throughout life as they navigate both early conductive, and progressive sensorineural hearing loss amid other healthcare needs. Hearing loss is self-identified as one of the largest unmet healthcare needs.

Purpose

The purpose of this study was to investigate the impact of treatment for hearing loss on communication confidence and quality of life measures for individuals with TS.

Research design

We employed a prospective cross-sectional study design that included both online survey data and audiometric data for a subset of participants.

Study sample

We recruited 179 adults with TS at the Turner Syndrome Society of the United States (TSSUS) Conference, and through a variety of regional TS organizations’ social media platforms. Audiological data was collected onsite at the conference for a subset of 67 participants; 8 of which who were followed after receiving subsequent treatment with hearing aids.

Data collection and analysis

The online survey design included demographic questions, the Communication Confidence Profile (CCP), and the RAND 36-Item Health Survey 1.0. Audiometric data included tympanometry, puretone air, and puretone bone conduction thresholds. Descriptive statistics, parametric, and non-parametric tests were used to analyze both survey and audiometric data.

Results

74% of participants had a self-reported diagnosis of hearing loss, of which 61% were previously recommended amplification. Only 38% of participants reported using hearing aids. For those participants who wore hearing aids, Total CCP Score, ‘Confidence in Ability to Hear Under Various Conditions’, and ‘Energy/Vitality’ metrics were significantly greater than those with untreated hearing loss warranting a hearing aid. Collectively, Total CCP Score and ‘Confidence in Ability to Hear Under Various Conditions’ increased significantly when participants were fit with hearing aids.

Conclusion

The results support previous data where hearing loss is a self-identified healthcare concern among women with Turner syndrome, yet many fail to receive appropriate hearing evaluation or treatment. Additionally, the use of hearing aids may improve communication confidence and quality of life in women with Turner syndrome. Furthermore, this study confirms the need for long-term audiological care and monitoring in women with Turner syndrome.

Tallaksen HBL, Johannsen EB, Just J, Viuff MH, Gravholt CH, Skakkebæk A. The multi-omic landscape of sex chromosome abnormalities: current status and future directions. Endocr Connect. 2023;12(9).

Atton G, Gordon K, Brice G, Keeley V, Riches K, Ostergaard P, et al. The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review. Eur J Hum Genet. 2015;23(12):1634–9.CrossRefPubMedPubMedCentral

Zhong Q, Layman LC. Genetic considerations in the patient with Turner syndrome–45,X with or without mosaicism. Fertil Steril. 2012;98(4):775–9.CrossRefPubMedPubMedCentral

Li N, Zhao L, Li J, Ding Y, Shen Y, Huang X, et al. Turner syndrome caused by rare complex structural abnormalities involving chromosome X. Exp Ther Med. 2017;14(3):2265–70.CrossRefPubMedPubMedCentral

Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. European journal of endocrinology. 2017;177(3):G1-g70.

Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, et al. Turner syndrome and xp deletions: clinical and molecular studies in 47 patients. J Clin Endocrinol Metab. 2001;86(11):5498–508.CrossRefPubMed

Bonnard Å, Hederstierna C, Bark R, Hultcrantz M. Audiometric features in young adults with Turner syndrome. Int J Audiol. 2017;56(9):650–6.CrossRefPubMed

Ferguson MA, Kitterick PT, Chong LY, Edmondson-Jones M, Barker F, Hoare DJ. Hearing aids for mild to moderate hearing loss in adults. Cochrane Database Syst Rev. 2017;9(9):Cd012023.PubMed

Sweetow R, Henderson Sabes J. The communication confidence Profile: a vital, but overlooked subjective domain. Hear J. 2010;63:17–82024.CrossRef

10.

Reed NS, Altan A, Deal JA, Yeh C, Kravetz AD, Wallhagen M, et al. Trends in Health Care costs and utilization Associated with untreated hearing loss over 10 years. JAMA otolaryngology– head neck Surg. 2019;145(1):27–34.CrossRef

11.

Reis CT, de Assumpção MS, Guerra-Junior G, de Lemos-Marini SHV. Systematic review of quality of life in Turner syndrome. Qual life Research: Int J Qual life Aspects Treat care Rehabilitation. 2018;27(8):1985–2006.CrossRef

12.

Hays RD, Sherbourne CD, Mazel RM. The RAND 36-Item Health Survey 1.0. Health Econ. 1993;2(3):217–27.CrossRefPubMed

13.

Part 4 Scheduling for Rating Disabilities. In: Affairs V, editor. CFR 2012 ed2012.

14.

SPSS Statistics for Windows. In. Corp I, editor 26 ed. Armonk, NY: IBM; 2019.

15.

Mann HB, Whitney DR. On a test of whether one of two Random variables is stochastically larger than the other. Ann Math Stat. 1947;18(1):50–60.MathSciNetCrossRef

16.

Wilcoxon F. Individual comparisons by ranking methods. Biometrics Bull. 1945;1(6):80–3.CrossRef

17.

Samsa G, Edelman D, Rothman ML, Williams GR, Lipscomb J, Matchar D. Determining clinically important differences in health status measures: a general approach with illustration to the Health utilities Index Mark II. PharmacoEconomics. 1999;15(2):141–55.CrossRefPubMed

18.

Kubba H, Smyth A, Wong SC, Mason A. Ear health and hearing surveillance in girls and women with Turner’s syndrome: recommendations from the Turner’s Syndrome Support Society. Clin Otolaryngol. 2017;42(3):503–7.CrossRefPubMed

19.

Hultcrantz M, Sylvén L. Turner’s syndrome and hearing disorders in women aged 16–34. Hear Res. 1997;103(1–2):69–74.CrossRefPubMed

20.

Roush J, Davenport ML, Carlson-Smith C. Early-onset sensorineural hearing loss in a child with Turner syndrome. J Am Acad Audiol. 2000;11(8):446–53.CrossRefPubMed

21.

Hederstierna C, Hultcrantz M, Rosenhall U. A longitudinal study of hearing decline in women with Turner syndrome. Acta Otolaryngol. 2009;129(12):1434–41.CrossRefPubMed

22.

Henry KS, Heinz MG. Diminished temporal coding with sensorineural hearing loss emerges in background noise. Nat Neurosci. 2012;15(10):1362–4.CrossRefPubMedPubMedCentral

23.

Wong LLN, Chen Y, Wang Q, Kuehnel V. Efficacy of a hearing aid noise reduction function. Trends Hear. 2018;22:2331216518782839.PubMedPubMedCentral

24.

Hultcrantz M, Sylvén L, Borg E. Ear and hearing problems in 44 middle-aged women with Turner’s syndrome. Hear Res. 1994;76(1–2):127–32.CrossRefPubMed

25.

Jayakody DMP, Wishart J, Stegeman I, Eikelboom R, Moyle TC, Yiannos JM, et al. Is there an Association between untreated hearing loss and psychosocial outcomes? Front Aging Neurosci. 2022;14:868673.CrossRefPubMedPubMedCentral

26.

Deafness and Hearing Loss: World Health Organization. 2023 [updated February 2023. Available from: https://www.who.int/news-room/fact-sheets/detail/deafness-and-hearing-loss

27.

Sutton EJ, McInerney-Leo A, Bondy CA, Gollust SE, King D, Biesecker B. Turner syndrome: four challenges across the lifespan. Am J Med Genet Part A. 2005;139a(2):57–66.CrossRefPubMed

28.

Boman UW, Bryman I, Möller A. Psychological well-being in women with Turner syndrome: somatic and social correlates. J Psychosom Obstet Gynaecol. 2004;25(3–4):211–9.CrossRefPubMed

29.

Job C, Adenipekun B, Cleves A, Samuriwo R. Health professional’s implicit bias of adult patients with low socioeconomic status (SES) and its effects on clinical decision-making: a scoping review protocol. BMJ Open. 2022;12(12):e059837.CrossRefPubMedPubMedCentral

30.

Simpson AN, Matthews LJ, Cassarly C, Dubno JR. Time from hearing Aid Candidacy to hearing Aid Adoption: a longitudinal cohort study. Ear Hear. 2019;40(3):468–76.CrossRefPubMedPubMedCentral

31.

Alotaibi AA, Cordero MAW. Assessing medical students’ knowledge of Genetics: basis for improving Genetics Curriculum for Future Clinical Practice. Adv Med Educ Pract. 2021;12:1521–30.CrossRefPubMedPubMedCentral

Title: The impact of amplification on quality of life in women with Turner syndrome
Authors: Lauren Mann
Lindsey VanLooy
Publication date: 01-12-2024
Publisher: BioMed Central
Keyword: Turner's Syndrome
Published in: Orphanet Journal of Rare Diseases / Issue 1/2024
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-024-03122-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

The impact of amplification on quality of life in women with Turner syndrome

Abstract

Background

Purpose

Research design

Study sample

Data collection and analysis

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Purpose

Research design

Study sample

Data collection and analysis

Results

Conclusion

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