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The Journal of International Advanced... Jan 2024Our study centers on various aspects of families who have 2 or more members with hearing loss (HL) and are living in Golestan province in Iran. We aimed to identify...
BACKGROUND
Our study centers on various aspects of families who have 2 or more members with hearing loss (HL) and are living in Golestan province in Iran. We aimed to identify those families with the highest probability of hereditary HL and also to examine the impact of consanguinity among them.
METHODS
The families included in the study underwent a comprehensive screening process that involved their prenatal and postnatal histories as well as family medical histories. Additionally, each patient received a thorough clinical ear examination. The evaluation also took into account factors such as patterns of inheritance, consanguinity, a 3-generation pedigree, and physical examination. Following this initial assessment, patients were referred for a complete hearing evaluation, which included pure-tone audiometry, speech recognition threshold, otoacoustic emission, and auditory brainstem response tests.
RESULTS
We identified a total of 8553 individuals living in Golestan province who are hearing impaired. Among those, our records indicate that 320 families had at least 2 affected members. The rate of consanguinity marriage in non-syndromic families was 64.43%. Also, a significant number (88.12%, or n=282) of the families exhibited hereditary HL, among which a substantial proportion (89.72%, or n=253) presented with nonsyndromic forms of HL. Furthermore, bilateral, stable, and prelingual HL were the most frequently observed types, and a majority of the patients were diagnosed with sensorineural and profound HL.
CONCLUSION
This study revealed a correlation between consanguinity and the incidence of familial HL, with more probability of bilateral, prelingual, sensorineural, and profound forms.
Topics: Humans; Cross-Sectional Studies; Iran; Hearing Loss; Deafness; Hearing Loss, Sensorineural; Audiometry, Pure-Tone
PubMed: 38454288
DOI: 10.5152/iao.2024.231214 -
Alternative Therapies in Health and... Mar 2024Gaucher disease (GD) is a clinically rare single-gene recessive lysosomal storage disease mainly divided into three subtypes I to III. This report aims to present a case...
OBJECTIVE
Gaucher disease (GD) is a clinically rare single-gene recessive lysosomal storage disease mainly divided into three subtypes I to III. This report aims to present a case of type IIIb GD in a Chinese child with a focus on the manifestation of hearing loss and the importance of early diagnosis and monitoring.
METHODS
The patient underwent a routine physical examination upon admission, followed by CT scans of the chest and abdomen, MRI of the brain, and bone marrow smear examination. The patient's GBA enzyme activity, Lyso-GL-1 levels, and GBA gene expression were analyzed using tandem mass spectrometry (MS/MS) and next-generation sequencing technology. Finally, auditory brainstem response (ABR) testing was conducted.
RESULTS
This report presented a case of a Chinese boy with hematological manifestations as the first symptom, followed by hepatosplenomegaly, and the bilateral femurs showed obvious Erlenmeyer flask-like changes. Combined with GBA enzyme activity, Lyso-GL-1 and GBA genotype analysis results, the boy was initially diagnosed as type I GD. During the follow-up, the boy developed nystagmus, bilateral ABR V wave threshold increased, V/I amplitude ratio <0.5, accompanied by delayed growth and development, and finally diagnosed as type IIIb.
CONCLUSIONS
This case suggests the necessity of neuropathy monitoring in patients with type I GD during the early stages of the disease. This includes EEG, neuro-ophthalmological examination, and auditory function assessment, which can help reflect the progression of neuropathy and facilitate the early diagnosis of type III GD.
PubMed: 38430150
DOI: No ID Found -
Nature Communications Mar 2024Inhibition of Notch signalling with a gamma-secretase inhibitor (GSI) induces mammalian hair cell regeneration and partial hearing restoration. In this proof-of-concept... (Randomized Controlled Trial)
Randomized Controlled Trial
Inhibition of Notch signalling with a gamma-secretase inhibitor (GSI) induces mammalian hair cell regeneration and partial hearing restoration. In this proof-of-concept Phase I/IIa multiple-ascending dose open-label trial (ISRCTN59733689), adults with mild-moderate sensorineural hearing loss received 3 intratympanic injections of GSI LY3056480, in 1 ear over 2 weeks. Phase I primary outcome was safety and tolerability. Phase lla primary outcome was change from baseline to 12 weeks in average pure-tone air conduction threshold across 2,4,8 kHz. Secondary outcomes included this outcome at 6 weeks and change from baseline to 6 and 12 weeks in pure-tone thresholds at individual frequencies, speech reception thresholds (SRTs), Distortion Product Otoacoustic Emissions (DPOAE) amplitudes, Signal to Noise Ratios (SNRs) and distribution of categories normal, present-abnormal, absent and Hearing Handicap Inventory for Adults/Elderly (HHIA/E). In Phase I (N = 15, 1 site) there were no severe nor serious adverse events. In Phase IIa (N = 44, 3 sites) the average pure-tone threshold across 2,4,8 kHz did not change from baseline to 6 and 12 weeks (estimated change -0.87 dB; 95% CI -2.37 to 0.63; P = 0.252 and -0.46 dB; 95% CI -1.94 to 1.03; P = 0.545, respectively), nor did the means of secondary measures. DPOAE amplitudes, SNRs and distribution of categories did not change from baseline to 6 and 12 weeks, nor did SRTs and HHIA/E scores. Intratympanic delivery of LY3056480 is safe and well-tolerated; the trial's primary endpoint was not met.
Topics: Adult; Aged; Humans; Amyloid Precursor Protein Secretases; Audiometry, Pure-Tone; Auditory Threshold; Hearing Loss, Sensorineural; Otoacoustic Emissions, Spontaneous
PubMed: 38429256
DOI: 10.1038/s41467-024-45784-0 -
Neuroscience Letters Mar 2024Ethosuximide is the first drug reported to protect against age-related hearing loss, but its benefits are hampered by the pronounced side effects generated through...
Ethosuximide is the first drug reported to protect against age-related hearing loss, but its benefits are hampered by the pronounced side effects generated through systemic administration. We prepared a thermosensitive hydrogel containing ethosuximide-encapsulated multivesicular liposomes (ethosuximide-loaded MVLs-Gel) and evaluated its functional and histological effects on age-related hearing loss in C57BL/6J mice. The MVLs-Gel showed slow sustained-release characteristics up to over 120 h. After 8 weeks of treatment, compared to the oral systemic administration of ethosuximide, intratympanic ethosuximide-loaded MVLs-Gel injection dramatically reduced the loss of age-related spiral ganglion neurons in the apical turns of the mice (low-frequency regions, p < 0.05). Correspondingly, compared to the oral systemic administration group, the intratympanic ethosuximide-loaded MVLs-Gel injection group showed significantly lower auditory brainstem response threshold shifts at stimulus frequencies of 4, 8, and 16 kHz (low-and middle-frequency regions, p < 0.05). In conclusion, intratympanic ethosuximide-loaded MVLs-Gel injection can reach the apical turn of the cochlea, which is extremely difficult with oral systemic administration of the drug. The ethosuximide-loaded MVLs-Gel, as a novel intratympanic sustained-release drug delivery system, attenuated age-related hearing loss in C57BL/6J mice.
Topics: Mice; Animals; Liposomes; Delayed-Action Preparations; Ethosuximide; Mice, Inbred C57BL; Hydrogels; Hearing Loss
PubMed: 38428726
DOI: 10.1016/j.neulet.2024.137693 -
Ear, Nose, & Throat Journal Mar 2024To investigate the consistency between the hearing handicap inventory (HHI) and pure-tone audiometry (PTA) scores in assessing hearing status to provide valuable...
To investigate the consistency between the hearing handicap inventory (HHI) and pure-tone audiometry (PTA) scores in assessing hearing status to provide valuable insights for clinical application. Retrospective analysis of clinical data and the HHI reporting status of 6540 patients admitted between April 2020 and July 2022 for self-reported unilateral hearing loss who met the study inclusion and exclusion criteria. The kappa coefficient was used to evaluate the consistency of HHI and PTA in assessing the hearing status of the participants. The PTA results showed that among the 6540 participants, 3895 exhibited normal hearing, 1434 showed mild hearing loss, 809 presented with moderate hearing loss, and 402 showed severe hearing loss. The mean hearing thresholds from 0.5 to 4 kHz in healthy ears ranged from 3.65 to 18.45 dB HL, with a mean of 10.83 ± 5.29 dB HL; in ears affected by hearing loss, this ranged from 35 to 125 dB HL, with a mean of 69.63 ± 28.45 dB HL. The HHI scores showed that 4820 people had normal hearing, 1245 had mild-to-moderate hearing loss, and 475 had severe hearing loss. The kappa coefficients of normal, mild-to-moderate, and severe hearing loss were 0.312, 0.223, and 0.716, respectively ( = .001). The consistency between the 2 groups was particularly significant in the assessment of severe hearing loss. Using the PTA results as a benchmark, the sensitivity, specificity, positive predictive value, and negative predictive value of the HHI were found to be 73.08%, 87.83%, 95.60%, and 70.98%, respectively. The HHI and PTA results were consistent in the assessment of hearing status, particularly in the assessment of severe hearing loss, and the level of consistency between the 2 methods was high. The combined use of these tools can facilitate a comprehensive assessment of the auditory status of patients with hearing loss.
PubMed: 38426445
DOI: 10.1177/01455613241235501 -
PloS One 2024The aim of this study is to assess the neonatal click Auditory Brainstem Response (ABR) results in relation to the subsequently determined mean hearing loss (HL) over 1,...
OBJECTIVE
The aim of this study is to assess the neonatal click Auditory Brainstem Response (ABR) results in relation to the subsequently determined mean hearing loss (HL) over 1, 2 and 4 kHz, as well as over 2 and 4 kHz.
METHODS
Between 2004-2009, follow-up data were collected from Visual Reinforcement Audiometry (VRA) at 1 and 2 years and playaudiometry at 4 and 8 years of newborns who had failed neonatal hearing screening in the well-baby clinics and who had been referred to a single Speech and Hearing center. Hearing Level data were compared with ABR threshold-levels established during the first months of life. The Two One-Sided Tests equivalence procedure for paired means was applied, using a region of similarity equal to 10 dB.
RESULTS
Initially, in 135 out of 172 children referred for diagnostic procedures hearing loss was confirmed in the neonatal period. In 106/135 of the HL children the eight-year follow-up was completed. Permanent conductive HL was established in 5/106 cases; the hearing thresholds were predominantly stable over time. Temporary conductive HL was found in 48/106 cases and the loss disappeared by 4 years of age at the latest. Sensorineural hearing loss (SNHL) was found in 53/106 cases, of which 13 were unilateral and 40 bilateral. ABR levels were equivalent (within a 10 dB range) to VRA levels at age 1 and 2 and play audiometry levels at age 4 and 8, both when VRA and play audiometry were averaged over both frequency ranges.
CONCLUSION
Long term follow-up data of children with SNHL suggest that the initial click ABR level established in the first months of life, are equivalent to the hearing threshold measured at the age of 1, 2, 4 and 8 years for both mean frequency ranges. Click ABR can reliably be used as starting point for long-term hearing rehabilitation.
Topics: Infant; Child; Infant, Newborn; Humans; Child, Preschool; Follow-Up Studies; Hearing Loss; Hearing Loss, Sensorineural; Hearing Tests; Hearing Loss, Conductive; Evoked Potentials, Auditory, Brain Stem; Deafness; Hearing; Auditory Threshold
PubMed: 38416728
DOI: 10.1371/journal.pone.0297363 -
Cephalalgia : An International Journal... Feb 2024To date, a number of studies on migraine have cross-sectionally evaluated sensory sensitivity with aversion thresholds/scores along the migraine cycle, reporting a...
BACKGROUND
To date, a number of studies on migraine have cross-sectionally evaluated sensory sensitivity with aversion thresholds/scores along the migraine cycle, reporting a decreased tolerance to sensory stimuli in different sensory modalities. Our hypothesis was that patients with migraine would exhibit heightened sensitivity to sound, light, touch and smell on days where they reported greater headache intensity.
METHODS
This is an exploratory, longitudinal study, carried out over the course of 27 days. Aversion thresholds or scores to sound, light, touch and smell were quantified in six patients with migraine (11.33 ± 6.53 headache days/month).
RESULTS
Patients reported an increased sensitivity to light ( = 0.0297), touch ( = 0.0077), and smell (p = 0.0201) on days with higher headache intensity. However, a greater sensitivity to sound on days with higher headache intensity was only reported when anxiety levels were high ( = 1.4e-06). Interestingly, variable levels of tolerance to bothersome light over time can also influence the correlation between light sensitivity and headache intensity ( = 1.4e-06).
CONCLUSIONS
Based on the present findings, future longitudinal studies evaluating sensory threshold changes along the migraine cycle in patients with migraine should account for the increased tolerance to bothersome light over time as well as the effect of anxiety on auditory sensitivity.
Topics: Humans; Longitudinal Studies; Migraine Disorders; Headache; Touch Perception; Sensory Thresholds
PubMed: 38416486
DOI: 10.1177/03331024241230279 -
Ear and HearingSelf-assessment of perceived communication difficulty has been used in clinical and research practices for decades. Such questionnaires routinely assess the perceived...
OBJECTIVES
Self-assessment of perceived communication difficulty has been used in clinical and research practices for decades. Such questionnaires routinely assess the perceived ability of an individual to understand speech, particularly in background noise. Despite the emphasis on perceived performance in noise, speech recognition in routine audiologic practice is measured by word recognition in quiet (WRQ). Moreover, surprisingly little data exist that compare speech understanding in noise (SIN) abilities to perceived communication difficulty. Here, we address these issues by examining audiometric thresholds, WRQ scores, QuickSIN signal to noise ratio (SNR) loss, and perceived auditory disability as measured by the five questions on the Speech Spatial Questionnaire-12 (SSQ12) devoted to speech understanding (SSQ12-Speech5).
DESIGN
We examined data from 1633 patients who underwent audiometric assessment at the Stanford Ear Institute. All individuals completed the SSQ12 questionnaire, pure-tone audiometry, and speech assessment consisting of ear-specific WRQ, and ear-specific QuickSIN. Only individuals with hearing threshold asymmetries ≤10 dB HL in their high-frequency pure-tone average (HFPTA) were included. Our primary objectives were to (1) examine the relationship between audiometric variables and the SSQ12-Speech5 scores, (2) determine the amount of variance in the SSQ12-Speech5 scores which could be predicted from audiometric variables, and (3) predict which patients were likely to report greater perceived auditory disability according to the SSQ12-Speech5.
RESULTS
Performance on the SSQ12-Speech5 indicated greater perceived auditory disability with more severe degrees of hearing loss and greater QuickSIN SNR loss. Degree of hearing loss and QuickSIN SNR loss were found to account for modest but significant variance in SSQ12-Speech5 scores after accounting for age. In contrast, WRQ scores did not significantly contribute to the predictive power of the model. Degree of hearing loss and QuickSIN SNR loss were also found to have moderate diagnostic accuracy for determining which patients were likely to report SSQ12-Speech5 scores indicating greater perceived auditory disability.
CONCLUSIONS
Taken together, these data indicate that audiometric factors including degree of hearing loss (i.e., HFPTA) and QuickSIN SNR loss are predictive of SSQ12-Speech5 scores, though notable variance remains unaccounted for after considering these factors. HFPTA and QuickSIN SNR loss-but not WRQ scores-accounted for a significant amount of variance in SSQ12-Speech5 scores and were largely effective at predicting which patients are likely to report greater perceived auditory disability on the SSQ12-Speech5. This provides further evidence for the notion that speech-in-noise measures have greater clinical utility than WRQ in most instances as they relate more closely to measures of perceived auditory disability.
Topics: Humans; Noise; Male; Female; Middle Aged; Speech Perception; Adult; Audiometry, Pure-Tone; Aged; Signal-To-Noise Ratio; Auditory Threshold; Young Adult; Surveys and Questionnaires; Adolescent; Aged, 80 and over; Hearing Loss
PubMed: 38414136
DOI: 10.1097/AUD.0000000000001472 -
Cureus Jan 2024Objective This retrospective study aims to present the audiologic outcomes of patients aged 18 years and above who underwent treatment for sudden sensorineural hearing...
Objective This retrospective study aims to present the audiologic outcomes of patients aged 18 years and above who underwent treatment for sudden sensorineural hearing loss (SSNHL) at the tertiary Hospital Central Sur Petróleos Mexicanos in Mexico City, Mexico, between January 2000 and December 2015. Main outcome measures The main outcome measures were patient demographics (age, sex, comorbidities) time from symptom onset to diagnosis and treatment initiation, initial threshold, treatment details (type, dosage, duration), adverse effects, audiometry at diagnosis and at the end of treatment, follow-up duration, and pure-tone average. Results A total of 72 patients were included, with a mean follow-up duration of four months. Comorbidities such as type 2 diabetes mellitus, hypertension, and hypertriglyceridemia were observed in a significant portion of patients. However, these conditions and the use of salvage therapy and adjuvant drugs did not impact hearing recovery. A longer delay from symptom onset to medical attention was associated with a lower gain in decibels (p=0.307). Diabetic patients who received steroid treatment showed a significant gain of at least 15 dB, indicating the greatest benefit in this subgroup. Conclusions Adjuvant drugs may be unnecessary and ineffective in treating SSNHL. Metabolic disorders may be linked to the development of SSNHL. Steroid treatment is the only effective therapeutic option for improving hearing recovery in diabetic patients. Early initiation of treatment after symptom onset is crucial for maximizing auditory recovery.
PubMed: 38406131
DOI: 10.7759/cureus.52977 -
Clinical Neurophysiology : Official... Apr 2024Sensorineural hearing-loss (SHL) is accompanied by changes in the entire ear-brain pathway and its connected regions. While hearing-aid (HA) partially compensates for... (Randomized Controlled Trial)
Randomized Controlled Trial
OBJECTIVE
Sensorineural hearing-loss (SHL) is accompanied by changes in the entire ear-brain pathway and its connected regions. While hearing-aid (HA) partially compensates for SHL, speech perception abilities often continue to remain poor, resulting in consequences in everyday activities. Repetitive transcranial magnetic stimulation (rTMS) promotes cortical network plasticity and may enhance language comprehension in SHL patients.
METHODS
27 patients using HA and with SHL were randomly assigned to a treatment protocol consisting of five consecutive days of either real (Active group: 13 patients) or placebo rTMS (Sham group: 14 patients). The stimulation parameters were as follows: 2-second trains at 10 Hz, 4-second inter-train-interval, and 1800 pulses. Neuronavigated rTMS was applied over the left superior temporal sulcus. Audiological tests were administered before (T0), immediately after (T1), and one week following treatment completion (T2) to evaluate the speech reception threshold (SRT) and the Pure Tone Average (PTA).
RESULTS
In the context of a general improvement likely due to learning, the treatment with real rTMS induced significant reduction of the SRT and PTA at T1 and T2 versus placebo.
CONCLUSIONS
The long-lasting effects on SRT and PTA observed in the Active group indicates that rTMS administered over the auditory cortex could promote sustained neuromodulatory-induced changes in the brain, improving the perception of complex sentences and pure tones reception skills.
SIGNIFICANCE
Five days of rTMS treatment enhances overall speech intelligibility and PTA in SHL patients.
Topics: Humans; Transcranial Magnetic Stimulation; Speech Intelligibility; Hearing Loss, Sensorineural; Speech Perception; Auditory Cortex; Treatment Outcome
PubMed: 38395005
DOI: 10.1016/j.clinph.2024.02.007