scholarly journals Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss

2017 ◽  
Vol 5 ◽  
pp. 2050313X1774590 ◽  
Author(s):  
Ayesha Umrigar ◽  
Amanda Musso ◽  
Danielle Mercer ◽  
Annette Hurley ◽  
Cassondra Glausier ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Age Of Onset ◽  
Usher Syndrome ◽  
Healthcare Providers ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Sensorineural Hearing ◽  
Diagnosis And Management ◽  
Syndromic Hearing Loss

Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity. Additionally, syndromic hearing loss (hearing loss and additional clinical abnormalities) should be distinguished from non-syndromic (hearing loss is the only clinical symptom). Although the diagnosis of genetic sensorineural hearing loss can be challenging, the patient’s family history and ethnicity may provide critical information, as certain genetic mutations are more common in specific ethnic populations. The early identification of the cause of deafness can benefit patients and their families by estimating recurrence risks for future family planning and offering the proper interventions to improve their quality of life. Collaboration between pediatricians, audiologists, otolaryngologists, geneticists, and other specialists are essential in the diagnosis and management of patients with hearing disorders. An early diagnosis is vital for proper management and care, as some clinical manifestations of syndromic sensorineural hearing loss are not apparent at birth and have a delayed age of onset. We present a case of Usher syndrome (congenital deafness and childhood-onset blindness) illustrating the challenges encountered in the diagnosis and management of children presenting with congenital genetic sensorineural hearing loss, along with helpful resources for clinicians and families.

scholarly journals Usher Syndrome: Genetics of a Human Ciliopathy

2021 ◽  
Vol 22 (13) ◽  
pp. 6723
Author(s):  
Carla Fuster-García ◽  
Belén García-Bohórquez ◽  
Ana Rodríguez-Muñoz ◽  
Elena Aller ◽  
Teresa Jaijo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Autosomal Recessive ◽  
Age Of Onset ◽  
Usher Syndrome ◽  
Organ Of Corti ◽  
Sensorineural Hearing ◽  
Protein Network ◽  
Phenotype Correlation

Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of the symptoms; in addition, ten genes are reported to be causative of USH, and six more related to the disease. These genes encode proteins of a diverse nature, which interact and form a dynamic protein network called the “Usher interactome”. In the organ of Corti, the USH proteins are essential for the correct development and maintenance of the structure and cohesion of the stereocilia. In the retina, the USH protein network is principally located in the periciliary region of the photoreceptors, and plays an important role in the maintenance of the periciliary structure and the trafficking of molecules between the inner and the outer segments of photoreceptors. Even though some genes are clearly involved in the syndrome, others are controversial. Moreover, expression of some USH genes has been detected in other tissues, which could explain their involvement in additional mild comorbidities. In this paper, we review the genetics of Usher syndrome and the spectrum of mutations in USH genes. The aim is to identify possible mutation associations with the disease and provide an updated genotype–phenotype correlation.

Causes and Types of Sensorineural Hearing Loss. Clinical Manifestations and Basic Principles of Treatment

2020 ◽  
pp. 9-16
Author(s):  
Sergey Armakov
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Clinical Manifestations ◽  
Sensorineural Hearing ◽  
Doppler Imaging ◽  
Comprehensive Treatment ◽  
Impaired Hearing ◽  
Temporal Bones ◽  
The Brain

Sensorineural hearing loss is a disorder associated with the damage to the inner ear structures: the cochlea (cortical organ), dysfunctioning of the vestibule-cochlear nerve or the central part of the auditory analyser (brain stem and cortical representation of the cortical temporal lobe). In recent years, there has been a steady increase in ensorineural hearing loss patients; they account for ca. 70% among the total patients with impaired hearing. The disease has numerous causes and a complex pathogenesis. Among the main factors contributing to hearing loss are genetic predisposition, perinatal pathology, including hypoxia at childbirth, exposure to infectious and toxic agents and metabolic disorders, injuries (mechanical, acoustic and altitude trauma). Vascular-rheological disorders in the vertebro-basilar system play an important part because blood is supplied to the inner ear from the anterior inferior cerebellar artery. There are sudden, acute and chronic sensorineural hearing loss. The ensorineural hearing loss isdiagnosed by examinations that allow to verify the diagnosis and to determine the sound analyser damage level. This complex includes audiometric examinations, including the tuning fork examination, speech audiometry, and acoustic impedancemetry. If necessary, ultrasound Doppler imaging of the main blood vessels of the brain, computed tomography of the temporal bones, and MRI of the brain are prescribed. The pattern of comprehensive treatment should include, first of all, the elimination of the disease cause and anti-hypoxic drugs, anti-oxidants and a number of physiotherapy procedures.

scholarly journals Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome

2019 ◽  
pp. 112067211987939
Author(s):  
Fabiana D’Esposito ◽  
Viviana Randazzo ◽  
Gilda Cennamo ◽  
Nicola Centore ◽  
Paolo Enrico Maltese ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Usher Syndrome ◽  
Age At Onset ◽  
Vestibular Dysfunction ◽  
Sensorineural Hearing ◽  
Type I ◽  
Missense Variation

Purpose: Usher syndrome (USH) is an autosomal recessive disorder characterized by congenital sensorineural hearing impairment and retinitis pigmentosa. Classification distinguishes three clinical types of which type I (USH1) is the most severe, with vestibular dysfunction as an added feature. To date, 15 genes and 3 loci have been identified with the USH1G gene being an uncommon cause of USH. We describe an atypical USH1G-related phenotype caused by a novel homozygous missense variation in a patient with profound hearing impairment and relatively mild retinitis pigmentosa, but no vestibular dysfunction. Methods: A 26-year-old female patient with profound congenital sensorineural hearing loss, nyctalopia and retinitis pigmentosa was studied. Audiometric, vestibular and ophthalmologic examination was performed. A panel of 13 genes was tested by next-generation sequencing (NGS). Results: While the hearing loss was confirmed to be profound, the vestibular function resulted normal. Although typical retinitis pigmentosa was present, the age at onset was unusually late for USH1 syndrome. A novel homozygous missense variation (c.1187T>A, p.Leu396Gln) in the USH1G gene has been identified as causing the disease in our patient. Conclusions: Genetic and phenotypic heterogeneity are very common in both isolated and syndromic retinal dystrophies and sensorineural hearing loss. Our findings widen the spectrum of USH allelic disorders and strength the concept that variants in genes that are classically known as underlying one specific clinical USH subtype might result in unexpected phenotypes.

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

2006 ◽  
Vol 121 (2) ◽  
pp. 203-211 ◽  
Author(s):  
Inga Ebermann ◽  
Hendrik P. N. Scholl ◽  
Peter Charbel Issa ◽  
Elvir Becirovic ◽  
Jürgen Lamprecht ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Usher Syndrome ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Novel Gene ◽  
Usher Syndrome Type

Additional clinical manifestations in children with sensorineural hearing loss and biallelicGJB2 mutations: Who should be offeredGJB2 testing?

2007 ◽  
Vol 143A (14) ◽  
pp. 1560-1566 ◽  
Author(s):  
Margaret A. Kenna ◽  
Heidi L. Rehm ◽  
Caroline D. Robson ◽  
Anna Frangulov ◽  
Jennifer McCallum ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Manifestations ◽  
Sensorineural Hearing

scholarly journals Immunoided otological diseases: when to suspect, how to diagnose and treat?

2019 ◽  
Vol 11 (2) ◽  
pp. 97-102
Author(s):  
Carlos Eduardo B Rezende
Keyword(s):  
Hearing Loss ◽  
Autoimmune Diseases ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Clinical Manifestations ◽  
Specific Treatment ◽  
Sensorineural Hearing ◽  
Suspected Case ◽  
Immunological Mechanisms ◽  
Organ Specific

The inner ear may be damaged by several autoimmune mechanisms, the most frequent manifestation being progressive sensorineural hearing loss with good responsiveness to immunosuppressants. Eiff work is justified by the need for further studies relating to sensorineural hearing loss mediated (DNSI), since the pathophysiology of this disease entity per obscure manece but positive response to immunosuppressive therapy enhances the existence of immunological mechanisms and autoimmune diseases. The overall objective of this work was to perform a literature review on sensorineural hearing loss immune-mediated-DNSI, focusing on the presentation forms and clinical manifestations, identifying the possible pathophysiological mechanisms involved in internal ear involvement. The specific focus was to establish a protocol to be followed to conduct a suspected case of DNSI, from diagnosis to treatment. The results found in the consulted literature show that the inner ear may be located within the organ-specific disease groups, or, more commonly, as a compromised organ within the systemic form, and hearing damage may be the first symptom. The index of inner ear impairment in systemic au toimunes is variable. It can be concluded that the hearing loss is neurossensoria may occur in patients with autoimmune disease and should always be taken in cases of hearing loss without apparent cause and the knowledge of autoimmune diseases and their correlation with the sensorineural hearing loss contributed significantly to the demystification of this type of hearing loss, allowing the institution of specific treatment.

scholarly journals The Successful Use of Infliximab in a Relapsing Case of Susac’s Syndrome

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Suran L. Fernando ◽  
Therese Boyle ◽  
Annika Smith ◽  
John D.E. Parratt
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Early Recognition ◽  
Delayed Diagnosis ◽  
Sensorineural Hearing ◽  
High Dose ◽  
Susac’S Syndrome ◽  
First Case ◽  
Retinal Artery ◽  
Bilateral Sensorineural Hearing Loss

Susac’s syndrome is a rare and debilitating disease characterized by the triad of encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss. All manifestations may not be clinically apparent at presentation resulting in delayed diagnosis. Early recognition of the syndrome may prevent disease sequelae such as permanent cognitive, visual, and hearing loss. We present such a case of Susac’s syndrome that was also refractory to conventionally prescribed combination of immunosuppressive treatments including high-dose potent corticosteroids, intravenous cyclophosphamide, methotrexate, plasma exchange, rituximab, and mycophenolate. His disease was stabilized with infliximab in combination with a tapering course of low-dose prednisone. After 2 years of remission with TNF treatment, consideration is being given to ceasing therapy. He has the sequelae of bilateral sensorineural hearing loss but no visual impairment or cognitive deficits on follow-up with neuropsychometric testing. This is the first case report to our knowledge of the successful use of infliximab for a patient with Susac’s syndrome that was necessary following treatment with cyclophosphamide and then rituximab.

scholarly journals Genetic and audiologic study in elderly with sensorineural hearing loss

CoDAS ◽  
2013 ◽  
Vol 25 (3) ◽  
pp. 224-228 ◽  
Author(s):  
Kelly Martins ◽  
Marília Fontenele ◽  
Silva Câmara ◽  
Edi Lúcia Sartorato
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Noise Exposure ◽  
Pure Tone Audiometry ◽  
Genetic Mutation ◽  
Sensorineural Hearing ◽  
Control Group ◽  
Case Group ◽  
Syndromic Hearing Loss ◽  
And Gender

PURPOSE: This study aimed to correlate probable predisposing factors for sensorineural hearing loss in elderly by investigating the audiologic characteristics and frequency of mutations in genes considered responsible for non-syndromic hearing loss. METHODS: Sixty elderly patients were separated into two groups: the Case Group, composed of 30 individuals, 21 females and nine males, all 60 years old or older and presenting diagnoses of sensorineural hearing loss, and the Control Group, composed of 30 elderly individuals matched to the experimental group by age and gender, presenting normal hearing. The patients underwent anamnesis and pure tone audiometry in frequencies of 250, 500, 1000, 2000, 3000, 4000 and 6000 Hz. Blood samples were collected from each patient for analysis of mutations in nuclear and mitochondrial genes related to non-syndromic sensorineural hearing loss. RESULTS: It was observed a greater tendency to noise exposure and consumption of alcohol in the Case Group. The statistically significant symptoms between the groups were tinnitus and hearing difficulty in several situations as: silent environment, telephone, television, sound location and in church. All the individuals of Case Group presented sensorineural and bilateral hearing loss. The symmetry and progression of the hearing impairment were also statistically significant between the groups. No genetic mutations were identified. CONCLUSION: The most reported symptoms were communication difficulties and tinnitus. The predominant auditory characteristics included sensorineural, bilateral, progressive and symmetrical hearing loss. It was not evidenced a relationship between sensorineural hearing loss in elderly and genes considered responsible for non-syndromic hearing loss as no genetic mutation was found in this study.

Sensorineural hearing loss after bacterial meningitis in children residing in Nur-Sultan

2020 ◽  
Vol 18 (4) ◽  
pp. 189-194
Author(s):  
A. Seidullayeva ◽  
◽  
D. Bayesheva ◽  
B. Turdalina ◽  
A. Altynbekova ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Bacterial Meningitis ◽  
Sensorineural Hearing Loss ◽  
Hearing Aids ◽  
Cochlear Implantation ◽  
Clinical Manifestations ◽  
Otoacoustic Emission ◽  
Neurological Complications ◽  
Viral Meningitis ◽  
Sensorineural Hearing

Bacterial meningitis (BM) is a widespread health problem characterized by severe clinical manifestations and high incidence of neurological complications. BM remains one of the main causes of disability and mortality among young children all over the world. Hearing loss is one of neurological complications associated with BM. It accounts for up to 60%–90% of all cases of acquired sensorineural hearing loss (SNHL). Between 2015 and 2018, we performed screening for SNHL among children who had had BM. Seven out of 62 patients examined (11.3%) were found to have SNHL. BM was primarily caused by Streptococcus pneumoniae (n = 4) and Neisseria meningitidis (n = 3). Three out of 4 patients had grade 3–4 SNHL. Computed tomography revealed cochlear ossification in two children and cochlear fibrosis in one child (who had successful cochlear implantation later). For the rest of the patients, we recommended hearing aids. We also found that hearing loss usually develops after BM and does not affect patients with viral meningitis (caused by enteroviruses). We recommend that children with BM undergo regular screening for SNHL (every 3 days during treatment) using otoacoustic emission. These patients should be also examined by an audiologist after discharge from hospital and then every three months for a year. Key words: children, cochlear implantation, meningitis, sensorineural hearing loss, acquired deafness

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