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Audiometric evaluation in individuals with mucopolysaccharidosis.

ABSTRACT: To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis. Fifty-three mucopolysaccharidosis patients were evaluated. The classification consisted of type I (Hurler syndrome, Hurler-Scheie and Scheie syndrome), type II (Hunter syndrome), type III (Sanfilippo syndrome), type IV (Morquio syndrome), and type VI (Maroteaux-Lamy syndrome). Immittance audiometry and play or conventional threshold tone audiometry were used to obtain auditory thresholds and were chosen according to the patient's chronological age and ability to understand/respond to the procedure. The findings were analyzed using descriptive statistics and considering the recommendations for research involving human beings contained in Resolution CNE N° 466/2012. Fifty-one subjects (96.2%) had hearing loss, and the conductive type was the most frequent. Only two (3.8%) patients presented bilateral thresholds within normal limits, one with type IV mucopolysaccharidosis and the other with type VI. There were 11 individuals (20.8%) with mucopolysaccharidosis type I with mixed hearing loss, 9 (16.9%) individuals with type I with conductive hearing loss and 9 (16.9%) with type VI with conductive hearing loss. Mild hearing loss was most common (37.3%), followed by moderately severe hearing loss (36.3%). The type B tympanometric curve (80.4%) was the most frequent. Most of the individuals with mucopolysaccharidosis types I, II, III, IV and VI presented mixed or conductive hearing losses of mild to moderately severe degree, type B tympanograms and an absence of contralateral acoustic reflexes.

SUBMITTER: Silveira MRMD

PROVIDER: S-EPMC6251249 | biostudies-other | 2018 Dec

REPOSITORIES: biostudies-other

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Audiometric evaluation in individuals with mucopolysaccharidosis.

Silveira Marcela Rosana Maia da MRMD Buriti Ana Karina Lima AKL Martins Ana Maria AM Gil Daniela D Azevedo Marisa Frasson de MF

Clinics (Sao Paulo, Brazil) 20181203

<h4>Objectives</h4>To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis.<h4>Method</h4>Fifty-three mucopolysaccharidosis patients were evaluated. The classification consisted of type I (Hurler syndrome, Hurler-Scheie and Scheie syndrome), type II (Hunter syndrome), type III (Sanfilippo syndrome), type IV (Morquio syndrome), and type VI (Maroteaux-Lamy syndrome). Immittance audiometry and play or conventional threshold tone audiom ...[more]

PMID: 30517303

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Project description:ObjectiveThe purpose of this study was to examine the difference between self-reported hearing status and hearing impairment assessed using conventional audiometry. The associated factors were examined when a concordance between self-reported hearing and audiometric measures was lacking.MethodsIn total, 19,642 individuals ?20 years of age who participated in the Korea National Health and Nutrition Examination Surveys conducted from 2009 through 2012 were enrolled. Pure-tone hearing threshold audiometry (PTA) was measured and classified into three levels: <25 dB (normal hearing); ?25 dB <40 dB (mild hearing impairment); and ?40 dB (moderate-to-severe hearing impairment). The self-reported hearing loss was categorized into 3 categories. The participants were categorized into three groups: the concordance (matched between self-reported hearing loss and audiometric PTA), overestimation (higher self-reported hearing loss compared to audiometric PTA), and underestimation groups (lower self-reported hearing loss compared to audiometric PTA). The associations of age, sex, education level, stress level, anxiety/depression, tympanic membrane (TM) status, hearing aid use, and tinnitus with the discrepancy between the hearing self-reported hearing loss and audiometric pure tone threshold results were analyzed using multinomial logistic regression analysis with complex sampling.ResultsOverall, 80.1%, 7.1%, and 12.8% of the participants were assigned to the concordance, overestimation, and underestimation groups, respectively. Older age (adjusted odds ratios [AORs] = 1.28 [95% confidence interval = 1.19-1.37] and 2.80 [2.62-2.99] for the overestimation and the underestimation groups, respectively), abnormal TM (2.17 [1.46-3.23] and 1.59 [1.17-2.15]), and tinnitus (2.44 [2.10-2.83] and 1.61 [1.38-1.87]) were positively correlated with both the overestimation and underestimation groups. Compared with specialized workers, service workers, manual workers, and the unemployed were more likely to be in the overestimation group (1.48 [1.11-1.98], 1.39 [1.04-1.86], and 1.50 [1.18-1.90], respectively), and service workers were more likely to be in the underestimation group (AOR = 1.42 [1.01-1.99]). Higher education level (0.77 [0.59-1.01] and 0.43 [0.33-0.57]) and hearing aid use (0.36 [0.17-0.77] and 0.23 [0.13-0.43]) were negatively associated with being in the underestimation group (0.43 [0.37-0.50]). Compared with males, females were less likely to be assigned to the underestimation group (0.43 [0.37-0.50]). Stress (1.98 [1.32-2.98]) and anxiety/depression (1.30 [1.06-1.59]) were associated with overestimation group.ConclusionOlder age, lower education level, occupation, abnormal TM, non-hearing aid use, and tinnitus were related to both overestimation and underestimation groups. Male gender was related to underestimation, and stress and anxiety/depression were correlated with overestimation group. An understanding of these factors associated with the self-reported hearing loss will be instrumental to identifying and managing hearing-impaired individuals.

Project description:ObjectivesTinnitus and hearing loss commonly coexist, however, the temporal relation between tinnitus and hearing loss is complex and not fully understood. Our objective was to examine the longitudinal association between persistent tinnitus, bothersome tinnitus, and 3-year elevation of audiometric hearing thresholds.DesignWe conducted a longitudinal cohort study among 3106 women (mean age 59 years) who were participants in the Nurses' Health Study II (2012-2018). Information on tinnitus was obtained from biennial questionnaires. Longitudinal changes in air conduction thresholds (0.5 to 8 kHz) were assessed by pure-tone audiometry conducted by licensed audiologists at 19 audiology testing sites across the United States. Logistic regression was used to estimate multivariable-adjusted odds ratios (MVORs, 95% confidence interval [CI]) and evaluate the relations of persistent tinnitus (several days per week or more), bothersome tinnitus (interferes with work, sleep, or daily activities), and risk of 3-year elevation of hearing thresholds.ResultsPersistent tinnitus was associated with higher risk of 3-year elevation of hearing thresholds across a broad range of frequencies. Compared with women without tinnitus, the MVORs (95% CI) for ≥5-dB threshold elevation among women with persistent tinnitus were 1.01 (0.81, 1.25) at 0.5 kHz, 1.45 (1.17, 1.81) at 1 kHz, 1.25 (1.00, 1.56) at 2 kHz, 1.34 (1.07, 1.69) at 3 kHz, 1.34 (1.06, 1.70) at 4 kHz, 1.49 (1.16, 1.91) at 6 kHz, and 1.63 (1.25, 2.12) at 8 kHz. The magnitudes of the associations for ≥10-dB threshold elevation were similar. The magnitudes of the associations were substantially greater among women with bothersome tinnitus. For example, compared with women without tinnitus, the MVORs (95% CI) for a ≥5- and ≥10-dB elevation of hearing thresholds at 4 kHz were 2.97 (1.50, 5.89) and 2.79 (1.38, 5.65), respectively. The risk was elevated even among women with tinnitus who had clinically normal hearing thresholds at baseline. In analyses that examined the association of tinnitus and elevation of low-, mid- and high-frequency pure-tone average (PTA) hearing thresholds, the results were similar. Compared with women without tinnitus, the MVORs (95% CI) for ≥5-dB PTA elevation among women with persistent tinnitus were 1.29 (0.99,1.67) for LPTA(0.5,1,2 kHz); 1.44 (1.16, 1.78) for MPTA(3,4 kHz); and 1.38 (1.11, 1.71) for HPTA(6,8 kHz). For ≥10-dB elevation, the MVORs were 2.85 (1.55, 5.23), 1.52 (1.10, 2.09), and 1.41 (1.10, 1.82), respectively.ConclusionPersistent tinnitus was associated with substantially higher risk of 3-year hearing threshold elevation, even among women with clinically normal baseline hearing. The magnitudes of the associations were greater among those with bothersome tinnitus. Monitoring hearing sensitivities may be indicated in patients with tinnitus, including those without audiometric evidence of hearing impairment.

Project description:Presbyacusis, or age-related hearing loss, can be characterized in humans as metabolic and sensory phenotypes, based on patterns of audiometric thresholds that were established in animal models. The metabolic phenotype is thought to result from deterioration of the cochlear lateral wall and reduced endocochlear potential that decreases cochlear amplification and produces a mild, flat hearing loss at lower frequencies coupled with a gradually sloping hearing loss at higher frequencies. The sensory phenotype, resulting from environmental exposures such as excessive noise or ototoxic drugs, involves damage to sensory and non-sensory cells and loss of the cochlear amplifier, which produces a 50-70 dB threshold shift at higher frequencies. The mixed metabolic + sensory phenotype exhibits a mix of lower frequency, sloping hearing loss similar to the metabolic phenotype, and steep, higher frequency hearing loss similar to the sensory phenotype. The current study examined audiograms collected longitudinally from 343 adults 50-93 years old (n = 686 ears) to test the hypothesis that metabolic phenotypes increase with increasing age, in contrast with the sensory phenotype. A Quadratic Discriminant Analysis (QDA) was used to classify audiograms from each of these ears as (1) Older-Normal, (2) Metabolic, (3) Sensory, or (4) Metabolic + Sensory phenotypes. Although hearing loss increased systematically with increasing age, audiometric phenotypes remained stable for the majority of ears (61.5 %) over an average of 5.5 years. Most of the participants with stable phenotypes demonstrated matching phenotypes for the left and right ears. Audiograms were collected over an average period of 8.2 years for ears with changing audiometric phenotypes, and the majority of those ears transitioned to a Metabolic or Metabolic + Sensory phenotype. These results are consistent with the conclusion that the likelihood of metabolic presbyacusis increases with increasing age in middle to older adulthood.

Project description:Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (generally >100 microg/mg creatinine), severe dysostosis multiplex, short stature, and death before the 2nd or 3rd decades. A more slowly progressing form has been described as having later onset, mildly elevated glycosaminoglycans (generally <100 microg/mg creatinine), mild dysostosis multiplex, with death in the 4th or 5th decades. Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel disease, and inguinal or umbilical hernia. Although intellectual deficit is generally absent in MPS VI, central nervous system findings may include cervical cord compression caused by cervical spinal instability, meningeal thickening and/or bony stenosis, communicating hydrocephalus, optic nerve atrophy and blindness. The disorder is transmitted in an autosomal recessive manner and is caused by mutations in the ARSB gene, located in chromosome 5 (5q13-5q14). Over 130 ARSB mutations have been reported, causing absent or reduced arylsulfatase B (N-acetylgalactosamine 4-sulfatase) activity and interrupted dermatan sulfate and chondroitin sulfate degradation. Diagnosis generally requires evidence of clinical phenotype, arylsulfatase B enzyme activity <10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude multiple sulfatase deficiency). The finding of elevated urinary dermatan sulfate with the absence of heparan sulfate is supportive. In addition to multiple sulfatase deficiency, the differential diagnosis should also include other forms of MPS (MPS I, II IVA, VII), sialidosis and mucolipidosis. Before enzyme replacement therapy (ERT) with galsulfase (Naglazyme), clinical management was limited to supportive care and hematopoietic stem cell transplantation. Galsulfase is now widely available and is a specific therapy providing improved endurance with an acceptable safety profile. Prognosis is variable depending on the age of onset, rate of disease progression, age at initiation of ERT and on the quality of the medical care provided.

Dataset Information

Audiometric evaluation in individuals with mucopolysaccharidosis.

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Audiometric evaluation in individuals with mucopolysaccharidosis.

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