Hearing loss and speech perception in noise difficulties in Fanconi anemia

Verheij, Emmy; Oomen, Karin P. Q.; Smetsers, Stephanie E.; Zanten, G. A. Van; Speleman, Luciënne

doi:10.1002/lary.26480

Cited by 5 publications

(4 citation statements)

References 12 publications

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“…Jos e Vale reported that about 50% of patients with FA had hearing impairments. Verheij et al [4] reported that 55.2% of the patients enrolled in their study had hearing impairments. Other studies indicate that only 11% of patients with FA had hearing impairments [1,2].…”

Section: Discussionmentioning

confidence: 90%

“…Early diagnosis helps to avoid disabilities and to improve speech and language development. Consequently, patients with Fanconi anemia should undergo pure-tone audiograms and speech tests as early as possible [4]. The Fanconi Anemia Guidelines for Diagnosis and Management recommend that all children with FA should undergo follow-up examinations with an otolaryngologist and audiologist for a comprehensive ear examination and audiologic evaluation, even if they had undergone standard newborn hearing screening tests [5].…”

Section: Introductionmentioning

confidence: 99%

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Vibrant Soundbridge implant in a patient with Fanconi anemia

Alanazi

Halawani

Alzhrani

2020

Acta Oto-Laryngologica Case Reports

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The Vibrant Soundbridge implant with a short process coupler placed at the short process of the incus has been successfully used to treat conductive hearing loss. Coupling of the floating mass transducer of the Vibrant Soundbridge to the short process of the incus is technically less demanding than incus long process vibroplasty and is more likely to generate a positive outcome without significantly changing residual hearing or resulting in medical or surgical complications. Herein, we describe a 19-year-old male patient with bilateral conductive hearing loss and Fanconi anemia who underwent vibroplasty with a short process coupler. Speech discrimination scores in both quiet and noisy environments, as well as the quality of life questionnaire results, revealed better functional gain with the use of the Vibrant Soundbridge than with the use of a conventional hearing aid. The results of the present case highlight the feasibility of implanting a Vibrant Soundbridge with a short process coupler in patients with conductive hearing loss due to Fanconi anemia.

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Section: Discussionmentioning

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Vibrant Soundbridge implant in a patient with Fanconi anemia

Alanazi

Halawani

Alzhrani

2020

Acta Oto-Laryngologica Case Reports

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“…As it appears to be the rule in FA, the structural abnormality range is wide. The following alterations have been described: small tympanic membrane in 62%, malformed malleus in 33-57%, bony islands at tympanic membrane in 48%, pinna malformations (including microtia) in 10-35%, abnormal course or prominence of the chorda tympani nerve in 34%, narrow external auditory canal in 32%, narrow internal auditory canal in 6%, and atresia of the external auditory canal in 3% ( 177 , 178 ).…”

Section: Dysmorphological and Oncological Phenotype Of Patients With ...mentioning

confidence: 99%

“…This translates into mild and moderate degrees of hearing impairment ( 177 – 180 ), particularly decreased hearing has been associated with the presence of structural ear anomalies ( 3 ). Assessment through the speech perception in noise test showed that up to 53% of evaluated patients had hearing impairment ( 178 ).…”

Section: Dysmorphological and Oncological Phenotype Of Patients With ...mentioning

confidence: 99%

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability

et al. 2022

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Inherited bone marrow failure syndromes (IBMFS) are a complex and heterogeneous group of genetic diseases. To date, at least 13 IBMFS have been characterized. Their pathophysiology is associated with germline pathogenic variants in genes that affect hematopoiesis. A couple of these diseases also have genomic instability, Fanconi anemia due to DNA damage repair deficiency and dyskeratosis congenita/telomere biology disorders as a result of an alteration in telomere maintenance. Patients can have extramedullary manifestations, including cancer and functional or structural physical abnormalities. Furthermore, the phenotypic spectrum varies from cryptic features to patients with significantly evident manifestations. These diseases require a high index of suspicion and should be considered in any patient with abnormal hematopoiesis, even if extramedullary manifestations are not evident. This review describes the disrupted cellular processes that lead to the affected maintenance of the genome structure, contrasting the dysmorphological and oncological phenotypes of Fanconi anemia and dyskeratosis congenita/telomere biology disorders. Through a dysmorphological analysis, we describe the phenotypic features that allow to make the differential diagnosis and the early identification of patients, even before the onset of hematological or oncological manifestations. From the oncological perspective, we analyzed the spectrum and risks of cancers in patients and carriers.

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