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Syndromic and Non-syndromic Hearing Loss: From Diagnosis to Treatment

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Otolaryngology".

Deadline for manuscript submissions: closed (25 September 2024) | Viewed by 8338

Special Issue Editors

Audiology and Otolaryngology, Institute for Maternal and Child Health IRCCS Burlo Garofolo, 34137 Trieste, Italy
Interests: newborn hearing screening; pediatric audiology; hereditary hearing loss; auditory rehabilitation; cochlear implants; early intervention

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Guest Editor
Department of Otorhinolaryngology and Cervicofacial Surgery, Ljubljana University Medical Centre | UMC, SI-1000 Ljubljana, Slovenia
Interests: cochlear implants; familly genetics of hearing loss; cochlear malformations and genetics; progressive hearing loss; Sy Usher, surgery of hearing loss
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Guest Editor
Neurodevelopmental Molecular Genetics Laboratory, Department of Women’s and Children’s Health SDB, Università degli Studi di Padova, Padua, Italy
Interests: medical genetics; mutation analysis; genotyping; newborn screening; gene expression; genetic hearing loss; fragile X syndrome; neurodevelopmental disorders; genetic basis of cognitive disability; autism spectrum disorder

Special Issue Information

Dear Colleagues,

Hearing loss is one of the most common birth defects. The estimated prevalence of clinically relevant unilateral or bilateral hearing loss is 1 to 3 per 1000 live births, which nearly doubles in adolescence due to the cumulative addition of patients with progressive, acquired or late-onset genetic causes. The introduction of newborn hearing screening and childhood hearing surveillance programs has led, over the past 30 years, to early diagnoses, improved assessments and, more importantly, to potentially improved developmental outcomes, as treatments and rehabilitation strategies (including hearing aids and cochlear implants) can be provided much earlier.

Over 50% of childhood permanent hearing loss is caused by genetic factors, classified as syndromic or nonsyndromic based on the presence or absence of co-inherited physical or laboratory findings.

About 30% of genetic deficits are syndromic, with more than 400 described syndromes associated with a hearing defect. There are some clinical features that can immediately indicate a syndromic cause of deafness: these are, for example, retinal, renal, thyroid, cardiac and pigmentation disorders, and craniofacial and structural anomalies of the outer, middle and inner ear. Other forms require expertise to be recognized, as they initially appear as isolated (not syndromic). It is important to be aware of the syndromes involving a child's hearing loss in order to facilitate early diagnosis and targeted treatment, both preventive and supportive. A correct approach to targeted genetic testing can, in some syndromic cases, reduce a long sequence of investigations and can shorten the time for medical treatment and appropriate support.

Nonsyndromic hereditary hearing loss accounts for about 70% of genetic cases in children; it is most often caused by pathogenetic variants in a single gene, but there is extreme genetic and also clinical intra- and interfamilial heterogeneity. Since 1994, the year in which the first genetic locus associated with nonsyndromic hearing loss was discovered, the dedicated research and clinical practices have grown, with more than 6,000 causal variants identified in more than 120 genes discovered to date.

The genetic diagnosis of syndromic and nonsyndromic hearing loss is an exquisitely multi- and interprofessional activity. Importantly, when interpreting data from genomic sequencing, the designation of pathogenicity for a particular variant does not automatically clarify the diagnosis and prognosis of a disease: for example, there are cases in which missense variants have been identified in genes that are associated with both Usher syndrome and nonsyndromic hearing loss.

This Special Issue is aimed at interdisciplinary clinical and research groups with an interest in the clinical description of syndromic and nonsyndromic hearing loss, evaluation strategies to identify the genetic cause and accurate genotype–phenotype correlation, the management of specific pathological clinical cases, and the counseling of family members of a child with syndromic or nonsyndromic hearing loss. Authors are welcome to cover other specific topics that have not been mentioned but fall within the theme of this Special Issue.

Dr. Eva Orzan
Prof. Dr. Saba Battelino
Prof. Dr. Alessandra Murgia
Guest Editors

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Keywords

  • genetic hearing loss
  • phenotype-genotype correlation
  • syndromic and non syndromic hearing loss
  • genetic counseling
  • hearing screening
  • cochlear implant
  • inner ear
  • management

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Published Papers (4 papers)

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Research

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12 pages, 894 KiB  
Article
Hearing Loss and Risk Factors in Very Low Birth Weight Infants
by Simonetta Frezza, Eloisa Tiberi, Mirta Corsello, Francesca Priolo, Francesco Cota, Piero Catenazzi, Guido Conti, Simonetta Costa and Giovanni Vento
J. Clin. Med. 2023, 12(24), 7583; https://doi.org/10.3390/jcm12247583 - 8 Dec 2023
Cited by 2 | Viewed by 2051
Abstract
The incidence of sensorineural hearing loss (SNHL) is still high in very low birth weight (VLBW) infants. The purpose of our study was to provide the prevalence rates of SNHL and to analyze the risk factors of hearing impairment and changes in hearing [...] Read more.
The incidence of sensorineural hearing loss (SNHL) is still high in very low birth weight (VLBW) infants. The purpose of our study was to provide the prevalence rates of SNHL and to analyze the risk factors of hearing impairment and changes in hearing thresholds in a cohort of VLBW infants. A retrospective observational study was conducted in our neonatal intensive care unit (NICU) from 2012 to 2016. All VLBW infants included were screened by transient evoked otoacoustic emissions (TEOAEs) and diagnostic auditory brainstem response (ABR). In total, we enrolled 316 infants and SNHL was diagnosed in 68, leading to an early incidence of 21.5% as 36 infants out of 68 improved. Finally, SNHL was confirmed in 20 patients (6.3%) who needed hearing aids. They were significantly smaller, sicker, had longer hospitalizations, and received more ototoxic therapies. Logistic regression analysis showed that gestational age (GA) influenced the association between drugs and SNHL. The results underlined how the total exposure to antibiotics is significantly associated with SNHL, even after GA correction. In conclusion, GA, birth weight and, above all, the length and complexity of NICU stay quantify the risk of SNHL and should be considered at the individual level for parent counseling. Full article
(This article belongs to the Special Issue Syndromic and Non-syndromic Hearing Loss: From Diagnosis to Treatment)
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Figure 1

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<p>Hearing screening program applied in our study.</p>
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<p>Audiological features and follow-up in infants with SNHL.</p>
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Review

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21 pages, 1714 KiB  
Review
Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature
by Sara Ghiselli, Giulia Parmeggiani, Giulia Zambonini and Domenico Cuda
J. Clin. Med. 2024, 13(5), 1500; https://doi.org/10.3390/jcm13051500 - 5 Mar 2024
Viewed by 1437
Abstract
Background: Baraitser–Winter Syndrome (BRWS) is a rare autosomal dominant condition associated with hearing loss (HL). In the literature, two types of this condition are reported, Baraitser–Winter type 1 (BRWS1) and type 2 (BRWS2) produced by specific pathogenetic variants of two different genes, [...] Read more.
Background: Baraitser–Winter Syndrome (BRWS) is a rare autosomal dominant condition associated with hearing loss (HL). In the literature, two types of this condition are reported, Baraitser–Winter type 1 (BRWS1) and type 2 (BRWS2) produced by specific pathogenetic variants of two different genes, ACTB for BRWS1 and ACTG1 for BRWS2. In addition to syndromic BRWS2, some pathogenic variants in ACTG1 are associated also to another pathologic entity, the “Autosomal dominant non-syndromic hearing loss 20/26”. In these syndromes, typical craniofacial features, sensory impairment (vision and hearing) and intellectual disabilities are frequently present. Heart anomalies, renal and gastrointestinal involvement and seizure are also common. Wide inter- and intra-familial variety in the phenotypic spectrum is reported. Some phenotypic aspects of these syndromes are not yet fully described, such as the degree and progression of HL, and better knowledge of them could be useful for correct follow-up and treatment. Methods and Results: In this study, we report two cases of children with HL and diagnosis of BRWS and a review of the current literature on HL in these syndromes. Full article
(This article belongs to the Special Issue Syndromic and Non-syndromic Hearing Loss: From Diagnosis to Treatment)
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Figure 1

Figure 1
<p>Photographs of the patient#1. (<b>A</b>) Patient at few months after birth. (<b>B</b>) Patient at age 12 months.</p>
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<p>Patient #1 unaided pure tone audiometry at different follow-ups.</p>
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<p>Photographs of the patient#2. (<b>A</b>) Patient at age of 18 months. (<b>B</b>) Patient at age 8 years.</p>
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<p>CT images in axial plane. (<b>A</b>) White arrows indicate hypodense material in middle ear and mastoid compatible with otitis media with effusion, greater on the right. (<b>B</b>) Ovals indicate the vestibular aqueduct bilaterally, black oval on the right (slightly enlarged aqueduct, larger than the diameter of posterior semicircular canal) and white oval on the left. (<b>C</b>) White asterisks indicate Bill bar bilaterally, thickened and more developed in length than normal.</p>
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<p>(<b>A</b>) PRISMA flow-charts for ACTB gene; (<b>B</b>) PRISMA flow-charts for ACTG1 gene.</p>
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13 pages, 353 KiB  
Review
Congenital Cytomegalovirus and Hearing Loss: The State of the Art
by Mirko Aldè, Sandro Binda, Valeria Primache, Laura Pellegrinelli, Elena Pariani, Fabrizio Pregliasco, Federica Di Berardino, Giovanna Cantarella and Umberto Ambrosetti
J. Clin. Med. 2023, 12(13), 4465; https://doi.org/10.3390/jcm12134465 - 3 Jul 2023
Cited by 19 | Viewed by 3123
Abstract
In developed countries, congenital cytomegalovirus (cCMV) infection is the most common congenital viral infection, representing the leading non-genetic cause of sensorineural hearing loss (HL). Diagnosis of cCMV infection can be performed by detection of CMV DNA in urine or saliva within 2–3 weeks [...] Read more.
In developed countries, congenital cytomegalovirus (cCMV) infection is the most common congenital viral infection, representing the leading non-genetic cause of sensorineural hearing loss (HL). Diagnosis of cCMV infection can be performed by detection of CMV DNA in urine or saliva within 2–3 weeks after birth, or later in dried blood samples on the Guthrie card. Currently, there are many controversies regarding the preventive, diagnostic, and therapeutic approaches to cCMV infection. HL secondary to cCMV is highly variable in onset, side, degree, audiometric configuration, and threshold changes over time. Therefore, it is of paramount importance to perform a long and thorough audiological follow-up in children with cCMV infection to ensure early identification and prompt treatment of progressive and/or late-onset HL. Early cochlear implantation appears to be a valid solution not only for children with bilateral profound HL, but also for those with single-sided deafness, improving localization ability and understanding speech in noisy environments. Moreover, the decision to apply a unilateral cochlear implant in children with cCMV is strengthened by the non-negligible possibility of hearing deterioration of the contralateral ear over time. Full article
(This article belongs to the Special Issue Syndromic and Non-syndromic Hearing Loss: From Diagnosis to Treatment)

Other

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8 pages, 1384 KiB  
Case Report
A Case Report of Malignant Cerebellopontine Angle Lesion Highlighting the Interdisciplinary Diagnostic Challenge in the Case of Unilateral Progressive Hearing Loss
by Riccardo Marzolino, Veronica Castro, Valeria Gambacorta, Eleonora Tonon, Elisabetta Cattaruzzi and Eva Orzan
J. Clin. Med. 2024, 13(12), 3483; https://doi.org/10.3390/jcm13123483 - 14 Jun 2024
Viewed by 1049
Abstract
The authors present the case of a young boy who experienced progressive unilateral hearing loss initially believed to be unrelated to any other medical condition. Methods: The patient received a thorough evaluation, which included a comprehensive battery of audiological tests, a CT scan, [...] Read more.
The authors present the case of a young boy who experienced progressive unilateral hearing loss initially believed to be unrelated to any other medical condition. Methods: The patient received a thorough evaluation, which included a comprehensive battery of audiological tests, a CT scan, and a gadolinium-enhanced MRI. Results: A repeated imaging investigation revealed the presence of a mass that mimicked a vestibular schwannoma (VS), but despite this, the boy was ultimately diagnosed with cerebral manifestations of B-cell acute lymphoblastic leukemia (B-ALL). Conclusions: Cerebral lesions originating from the internal auditory canal are rare in cases of B-ALL. In this case, the initial signs and symptoms of the disease were solely related to the audiovestibular system, making the diagnostic process particularly complicated. Unilateral hearing loss cases may indicate the presence of potentially life-threatening conditions, even if the hearing loss appears to be clinically non-syndromic. For these reasons, unilateral hearing losses necessitate a comprehensive interdisciplinary diagnostic approach from the very start of auditory manifestation and, in particular, if the hearing impairment demonstrates threshold progression. Full article
(This article belongs to the Special Issue Syndromic and Non-syndromic Hearing Loss: From Diagnosis to Treatment)
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Figure 1

Figure 1
<p>Click-evoked ABR revealing normal morphology and latencies on the right side but absent on the left side. The Roman numerals (I, III, V) correspond to the peaks of the ABR waves.</p>
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<p>(<b>A</b>–<b>C</b>): The first MRI-obtained scan demonstrating the enhancing features of the lesion (highlighted by a red circle): (<b>A</b>) (T1 sequence), (<b>B</b>) (T1 sequence after gadolinium), and (<b>C</b>) (T2 sequence).</p>
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<p>Comparison of the two MRI-obtained scans showing the increase in the lesion (highlighted by a red circle) from 13.8 × 5 × 6 mm (<b>A</b>) to 17 × 5 × 10 mm (<b>B</b>).</p>
Full article ">
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