Audiometric evaluation in individuals with mucopolysaccharidosis

Silveira, Marcela Rosana Maia da; Buriti, Ana Karina Lima; Martins, Ana María; Gil, Daniela; Azevedo, Marisa Frasson de

doi:10.6061/clinics/2018/e523

Cited by 16 publications

(18 citation statements)

References 20 publications

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“…A recent comprehensive study of patients with MPS including 10 MPS I participants used different audiometry procedures, depending on age and cognitive function [48]. Hearing in children aged 6 months to 2 years was tested by visual reinforcement audiometry (VRA), whereas children aged 2-6 years underwent conditional tonal play audiometry and individuals aged 7 and older were tested through conventional tonal audiometry.…”

Section: Diagnostics For Auditory Manifestationsmentioning

confidence: 99%

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Hampe

Eisengart

Lund

et al. 2020

Cells

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Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease, caused by deficiency of the enzyme α-L-iduronidase, resulting in accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfate in organs and tissues. If untreated, patients with the severe phenotype die within the first decade of life. Early diagnosis is crucial to prevent the development of fatal disease manifestations, prominently cardiac and respiratory disease, as well as cognitive impairment. However, the initial symptoms are nonspecific and impede early diagnosis. This review discusses common phenotypic manifestations in the order in which they develop. Similarities and differences in the three animal models for MPS I are highlighted. Earliest symptoms, which present during the first 6 months of life, include hernias, coarse facial features, recurrent rhinitis and/or upper airway obstructions in the absence of infection, and thoracolumbar kyphosis. During the next 6 months, loss of hearing, corneal clouding, and further musculoskeletal dysplasias develop. Finally, late manifestations including lower airway obstructions and cognitive decline emerge. Cardiac symptoms are common in MPS I and can develop in infancy. The underlying pathogenesis is in the intra- and extracellular accumulation of partially degraded GAGs and infiltration of cells with enlarged lysosomes causing tissue expansion and bone deformities. These interfere with the proper arrangement of collagen fibrils, disrupt nerve fibers, and cause devastating secondary pathophysiological cascades including inflammation, oxidative stress, and other disruptions to intracellular and extracellular homeostasis. A greater understanding of the natural history of MPS I will allow early diagnosis and timely management of the disease facilitating better treatment outcomes.

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Section: Diagnostics For Auditory Manifestationsmentioning

confidence: 99%

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Hampe

Eisengart

Lund

et al. 2020

Cells

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“…Hearing loss is common in both the severe and attenuated phenotypes [ 49 ]. Reported rates of hearing loss range from 76.2% to 100% [ 10 , 20 , 21 , 22 ]. Hearing loss can present as conductive, sensorineural, or mixed [ 20 ].…”

Section: Mucopolysaccharidosis Type I (Hurler Syndrome)mentioning

confidence: 99%

“…Hearing loss can present as conductive, sensorineural, or mixed [ 20 ]. Severity ranges from mild to severe, with mild and moderately severe being most common [ 10 ]. Chronic otitis media is also common, with an estimated rate of 89.1% [ 22 ].…”

Section: Mucopolysaccharidosis Type I (Hurler Syndrome)mentioning

confidence: 99%

“…The severity of hearing loss ranged from mild to moderate-severe in MPS IIIA [ 32 ] and moderate to severe in MPS IIIB [ 69 ]. Sensorineural hearing loss was the most common type of hearing loss [ 10 , 12 , 32 , 69 ], but the type of hearing loss was not determined in some patients because comprehensive hearing assessment was difficult to conduct or not available [ 65 ]. Conductive issues also appear early in life, as otitis media has a reported rate of 91%, and tympanostomy tubes are placed in most patients before 5 years [ 32 ].…”

Section: Mucopolysaccharidosis Type III (Sanfilippo Syndrome)mentioning

confidence: 99%

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Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

et al. 2020

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Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans. Hearing loss is a common clinical presentation in MPS. This paper reviews the literature on hearing loss for each of the seven recognized subtypes of MPS. Hearing loss was found to be common in MPS I, II, III, IVA, VI, and VII, and absent from MPS IVB and MPS IX. MPS VI presents primarily with conductive hearing loss, while the other subtypes (MPS I, MPS II, MPS III, MPS IVA, and MPS VII) can present with any type of hearing loss (conductive, sensorineural, or mixed hearing loss). The sensorineural component develops as the disease progresses, but there is no consensus on the etiology of the sensorineural component. Enzyme replacement therapy (ERT) is the most common therapy utilized for MPS, but the effects of ERT on hearing function have been inconclusive. This review highlights a need for more comprehensive and multidisciplinary research on hearing function that includes behavioral testing, objective testing, and temporal bone imaging. This information would allow for better understanding of the progression and etiology of hearing loss. Owing to the prevalence of hearing loss in MPS, early diagnosis of hearing loss and annual comprehensive audiological evaluations are recommended.

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“…Progressive hearing loss is a common feature of all MPS disorders, and is mainly due to recurrent otitis media, middle ear effusion, ossicle deformity, inner ear (cochlea) abnormalities and alterations in the auditory nerve [3,9]. While young children with MPS generally present with conductive hearing loss, mixed hearing loss or pure sensorineural hearing loss tends to develop later in life as part of the natural history of MPS.…”

Section: Hearing and Speechmentioning

confidence: 99%

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

Giugliani

Harmatz

Lin

et al. 2020

Orphanet J Rare Dis

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Background: The mucopolysaccharidoses (MPSs) are lysosomal storage disorders associated with progressive multiorgan and skeletal abnormalities. Clinical manifestations can affect each of the five senses: hearing, vision, smell, taste, and touch. Main body of the abstract: On 24-26 May 2018, 46 specialists with expertise in managing symptoms of MPS and experts specialized in evaluating and managing impairments in each one of the five senses gathered in Lisbon, Portugal at the "MPS & the five senses" meeting to discuss how loss of one or multiple senses can affect activities of daily living (ADL) and quality of life (QoL) in MPS patients and best practices in evaluating and managing the loss of senses in these individuals. The meeting confirmed that MPS can affect the senses considerably, but how these impairments affect ADL and overall QoL from a patient's perspective remains unclear. A better insight may be achieved by prospectively collecting patient-reported outcome (PRO) data internationally in a standardized way, using a standard battery of tools. To identify relevant PRO tools, a systematic literature review and a selection of existing published questionnaires, focused on adults with no intellectual delay, were performed after the meeting. The search strategy identified 33 PRO tools for hearing, 30 for speech, 125 for vision, 49 for touch (including pain and upper limb function), and 15 for smell/taste. A further selection was made based on several criteria, including applicability/relevance for MPS, applicability in different countries (languages)/cultures, availability in English, ease of use, validation, and normative data, resulting in a final set of 11 tools. In addition to these sense-specific PRO tools, a general QoL tool, the EuroQol (EQ)-5D-5 L, was selected to assess overall QoL and reveal coping behaviors. Short conclusion: MPS can affect each of the five senses, but current knowledge on the impact of sense impairments on QoL/ADL in MPS patients remains limited. Collection of data in a standardized fashion using sensespecific patient-reported outcome tools and a general QoL tool may fill the current knowledge gap.

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Audiometric evaluation in individuals with mucopolysaccharidosis

Cited by 16 publications

References 20 publications

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

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