Comprehensive medical evaluation of pediatric bilateral sensorineural hearing loss

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Abstract

Children with bilateral sensorineural hearing loss (SNHL) should undergo a comprehensive medical evaluation to determine the underlying etiology and help guide treatment and counseling. In this article, we review the indications and rationale for medical evaluation of pediatric bilateral SNHL, including history and physical examination, imaging, genetic testing, specialist referrals, cytomegalovirus (CMV) testing, and other laboratory tests. Workup begins with a history and physical examination, which can provide clues to the etiology of SNHL, particularly with syndromic causes. If SNHL is diagnosed within the first 3 weeks of life, CMV testing should be performed to identify patients that may benefit from antiviral treatment. If SNHL is diagnosed after 3 weeks, testing can be done using dried blood spots samples, if testing capability is available. Genetic testing is oftentimes successful in identifying causes of hearing loss as a result of recent technological advances in testing and an ever‐increasing number of identified genes and genetic mutations. Therefore, where available, genetic testing should be performed, ideally with next generation sequencing techniques. Ophthalmological evaluation must be done on all children with SNHL. Imaging (high‐resolution computed tomography and/or magnetic resonance imaging) should be performed to assess for anatomic causes of hearing loss and to determine candidacy for cochlear implantation when indicated. Laboratory testing is indicated for certain etiologies, but should not be ordered indiscriminately since the yield overall is low.

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Radiation exposure from CT scans in childhood and subsequent risk of leukaemia and brain tumours: a retrospective cohort study

Mark S. Pearce, Jane Salotti, Mark Little … (2012)

Summary Background Although CT scans are very useful clinically, potential cancer risks exist from associated ionising radiation, in particular for children who are more radiosensitive than adults. We aimed to assess the excess risk of leukaemia and brain tumours after CT scans in a cohort of children and young adults. Methods In our retrospective cohort study, we included patients without previous cancer diagnoses who were first examined with CT in National Health Service (NHS) centres in England, Wales, or Scotland (Great Britain) between 1985 and 2002, when they were younger than 22 years of age. We obtained data for cancer incidence, mortality, and loss to follow-up from the NHS Central Registry from Jan 1, 1985, to Dec 31, 2008. We estimated absorbed brain and red bone marrow doses per CT scan in mGy and assessed excess incidence of leukaemia and brain tumours cancer with Poisson relative risk models. To avoid inclusion of CT scans related to cancer diagnosis, follow-up for leukaemia began 2 years after the first CT and for brain tumours 5 years after the first CT. Findings During follow-up, 74 of 178 604 patients were diagnosed with leukaemia and 135 of 176 587 patients were diagnosed with brain tumours. We noted a positive association between radiation dose from CT scans and leukaemia (excess relative risk [ERR] per mGy 0·036, 95% CI 0·005–0·120; p=0·0097) and brain tumours (0·023, 0·010–0·049; p<0·0001). Compared with patients who received a dose of less than 5 mGy, the relative risk of leukaemia for patients who received a cumulative dose of at least 30 mGy (mean dose 51·13 mGy) was 3·18 (95% CI 1·46–6·94) and the relative risk of brain cancer for patients who received a cumulative dose of 50–74 mGy (mean dose 60·42 mGy) was 2·82 (1·33–6·03). Interpretation Use of CT scans in children to deliver cumulative doses of about 50 mGy might almost triple the risk of leukaemia and doses of about 60 mGy might triple the risk of brain cancer. Because these cancers are relatively rare, the cumulative absolute risks are small: in the 10 years after the first scan for patients younger than 10 years, one excess case of leukaemia and one excess case of brain tumour per 10 000 head CT scans is estimated to occur. Nevertheless, although clinical benefits should outweigh the small absolute risks, radiation doses from CT scans ought to be kept as low as possible and alternative procedures, which do not involve ionising radiation, should be considered if appropriate. Funding US National Cancer Institute and UK Department of Health.

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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Christina Sloan-Heggen, Amanda Bierer, A. Eliot Shearer … (2016)

Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been completed in a large multiethnic cohort. To determine the aggregate contribution inheritance makes to non-syndromic hearing loss, we performed comprehensive clinical genetic testing with targeted genomic enrichment and massively parallel sequencing on 1119 sequentially accrued patients. No patient was excluded based on phenotype, inheritance or previous testing. Testing resulted in identification of the underlying genetic cause for hearing loss in 440 patients (39 %). Pathogenic variants were found in 49 genes and included missense variants (49 %), large copy number changes (18 %), small insertions and deletions (18 %), nonsense variants (8 %), splice-site alterations (6 %), and promoter variants (<1 %). The diagnostic rate varied considerably based on phenotype and was highest for patients with a positive family history of hearing loss or when the loss was congenital and symmetric. The spectrum of implicated genes showed wide ethnic variability. These findings support the more efficient utilization of medical resources through the development of evidence-based algorithms for the diagnosis of hearing loss. Electronic supplementary material The online version of this article (doi:10.1007/s00439-016-1648-8) contains supplementary material, which is available to authorized users.

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Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Oscar Díaz Horta, Duygu Duman, Joseph Foster … (2012)

Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so far been reported. After excluding mutations in the most common ARNSHL gene, GJB2, via Sanger sequencing, we performed whole-exome sequencing (WES) in 30 individuals from 20 unrelated multiplex consanguineous families with ARNSHL. Agilent SureSelect Human All Exon 50 Mb kits and an Illumina Hiseq2000 instrument were used. An average of 93%, 84% and 73% of bases were covered to 1X, 10X and 20X within the ARNSHL-related coding RefSeq exons, respectively. Uncovered regions with WES included those that are not targeted by the exome capture kit and regions with high GC content. Twelve homozygous mutations in known deafness genes, of which eight are novel, were identified in 12 families: MYO15A-p.Q1425X, -p.S1481P, -p.A1551D; LOXHD1-p.R1494X, -p.E955X; GIPC3-p.H170N; ILDR1-p.Q274X; MYO7A-p.G2163S; TECTA-p.Y1737C; TMC1-p.S530X; TMPRSS3-p.F13Lfs*10; TRIOBP-p.R785Sfs*50. Each mutation was within a homozygous run documented via WES. Sanger sequencing confirmed co-segregation of the mutation with deafness in each family. Four rare heterozygous variants, predicted to be pathogenic, in known deafness genes were detected in 12 families where homozygous causative variants were already identified. Six heterozygous variants that had similar characteristics to those abovementioned variants were present in 15 ethnically-matched individuals with normal hearing. Our results show that rare causative mutations in known ARNSHL genes can be reliably identified via WES. The excess of heterozygous variants should be considered during search for causative mutations in ARNSHL genes, especially in small-sized families.

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Author and article information

Contributors

Samantha Anne:

ORCID: https://orcid.org/0000-0002-5719-6206

annes@ccf.org

Journal

Journal ID (nlm-ta): Laryngoscope Investig Otolaryngol

Journal ID (iso-abbrev): Laryngoscope Investig Otolaryngol

Journal ID (doi): 10.1002/(ISSN)2378-8038

Journal ID (publisher-id): LIO2

Title: Laryngoscope Investigative Otolaryngology

Publisher: John Wiley & Sons, Inc. (Hoboken, USA )

ISSN (Electronic): 2378-8038

Publication date (Electronic): 09 September 2021

Publication date Collection: October 2021

Volume: 6

Issue: 5 ( doiID: 10.1002/lio2.v6.5 )

Pages: 1196-1207

Affiliations

[ ¹ ] Head and Neck Institute Cleveland Clinic Cleveland Ohio USA

[ ² ] Department of Otolaryngology, Head and Neck Surgery Harvard Medical School Boston Massachusetts USA

[ ³ ] Department of Otolaryngology‐Head and Neck Surgery Washington University in St. Louis St. Louis Missouri USA

[ ⁴ ] Department of Otolaryngology and Communication Enhancement Boston Children's Hospital Boston Massachusetts USA

Author notes

[*] [* ] Correspondence

Samantha Anne, Head & Neck Institute, Cleveland Clinic, 9500 Euclid Ave A71, Cleveland, OH 44195, USA.

Email: annes@ 123456ccf.org

Author information

Suat Kılıç https://orcid.org/0000-0001-7903-2299

Michael S. Cohen https://orcid.org/0000-0002-1877-8668

Judith E. C. Lieu https://orcid.org/0000-0001-7933-5601

Margaret Kenna https://orcid.org/0000-0003-0851-9272

Samantha Anne https://orcid.org/0000-0002-5719-6206

Article

Publisher ID: LIO2657

DOI: 10.1002/lio2.657

PMC ID: 8513426

SO-VID: b4ed4ada-9da0-44ac-b892-66c5da754817

License:

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

History

Date revision received : 30 August 2021

Date received : 04 July 2021

Date accepted : 31 August 2021

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Figures: 1, Tables: 6, Pages: 12, Words: 8685

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source-schema-version-number 2.0

cover-date October 2021

details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:6.0.8 mode:remove_FC converted:13.10.2021

Keywords: bilateral sensorineural hearing loss,ekg,genetic testing,imaging,medical evaluation,medical workup,pediatric sensorineural hearing loss,snhl

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Keywords: bilateral sensorineural hearing loss, ekg, genetic testing, imaging, medical evaluation, medical workup, pediatric sensorineural hearing loss, snhl

Comprehensive medical evaluation of pediatric bilateral sensorineural hearing loss

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Hearing Loss and Restoration

Most cited references 94

Radiation exposure from CT scans in childhood and subsequent risk of leukaemia and brain tumours: a retrospective cohort study

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

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