-
International Archives of Occupational... Apr 2016To give a systematic review of the development of noise-induced hearing loss (NIHL) in working life. (Review)
Review
PURPOSE
To give a systematic review of the development of noise-induced hearing loss (NIHL) in working life.
METHODS
A literature search in MEDLINE, Embase, Web of Science, Scopus, and Health and Safety Abstracts, with appropriate keywords on noise in the workplace and health, revealed 22,413 articles which were screened by six researchers. A total of 698 articles were reviewed in full text and scored with a checklist, and 187 articles were found to be relevant and of sufficient quality for further analysis.
RESULTS
Occupational noise exposure causes between 7 and 21 % of the hearing loss among workers, lowest in the industrialized countries, where the incidence is going down, and highest in the developing countries. It is difficult to distinguish between NIHL and age-related hearing loss at an individual level. Most of the hearing loss is age related. Men lose hearing more than women do. Heredity also plays a part. Socioeconomic position, ethnicity and other factors, such as smoking, high blood pressure, diabetes, vibration and chemical substances, may also affect hearing. The use of firearms may be harmful to hearing, whereas most other sources of leisure-time noise seem to be less important. Impulse noise seems to be more deleterious to hearing than continuous noise. Occupational groups at high risk of NIHL are the military, construction workers, agriculture and others with high noise exposure.
CONCLUSION
The prevalence of NIHL is declining in most industrialized countries, probably due to preventive measures. Hearing loss is mainly related to increasing age.
Topics: Adult; Female; Hearing Loss, Noise-Induced; Humans; Male; Noise, Occupational; Occupational Diseases; Occupational Exposure; Risk Factors
PubMed: 26249711
DOI: 10.1007/s00420-015-1083-5 -
The Cochrane Database of Systematic... Sep 2015In experimental studies, the outcome of bacterial meningitis has been related to the severity of inflammation in the subarachnoid space. Corticosteroids reduce this... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
In experimental studies, the outcome of bacterial meningitis has been related to the severity of inflammation in the subarachnoid space. Corticosteroids reduce this inflammatory response.
OBJECTIVES
To examine the effect of adjuvant corticosteroid therapy versus placebo on mortality, hearing loss and neurological sequelae in people of all ages with acute bacterial meningitis.
SEARCH METHODS
We searched CENTRAL (2015, Issue 1), MEDLINE (1966 to January week 4, 2015), EMBASE (1974 to February 2015), Web of Science (2010 to February 2015), CINAHL (2010 to February 2015) and LILACS (2010 to February 2015).
SELECTION CRITERIA
Randomised controlled trials (RCTs) of corticosteroids for acute bacterial meningitis.
DATA COLLECTION AND ANALYSIS
We scored RCTs for methodological quality. We collected outcomes and adverse effects. We performed subgroup analyses for children and adults, causative organisms, low-income versus high-income countries, time of steroid administration and study quality.
MAIN RESULTS
We included 25 studies involving 4121 participants (2511 children and 1517 adults; 93 mixed population). Four studies were of high quality with no risk of bias, 14 of medium quality and seven of low quality, indicating a moderate risk of bias for the total analysis. Nine studies were performed in low-income countries and 16 in high-income countries.Corticosteroids were associated with a non-significant reduction in mortality (17.8% versus 19.9%; risk ratio (RR) 0.90, 95% confidence interval (CI) 0.80 to 1.01, P value = 0.07). A similar non-significant reduction in mortality was observed in adults receiving corticosteroids (RR 0.74, 95% CI 0.53 to 1.05, P value = 0.09). Corticosteroids were associated with lower rates of severe hearing loss (RR 0.67, 95% CI 0.51 to 0.88), any hearing loss (RR 0.74, 95% CI 0.63 to 0.87) and neurological sequelae (RR 0.83, 95% CI 0.69 to 1.00).Subgroup analyses for causative organisms showed that corticosteroids reduced mortality in Streptococcus pneumoniae (S. pneumoniae) meningitis (RR 0.84, 95% CI 0.72 to 0.98), but not in Haemophilus influenzae (H. influenzae) orNeisseria meningitidis (N. meningitidis) meningitis. Corticosteroids reduced severe hearing loss in children with H. influenzae meningitis (RR 0.34, 95% CI 0.20 to 0.59) but not in children with meningitis due to non-Haemophilus species.In high-income countries, corticosteroids reduced severe hearing loss (RR 0.51, 95% CI 0.35 to 0.73), any hearing loss (RR 0.58, 95% CI 0.45 to 0.73) and short-term neurological sequelae (RR 0.64, 95% CI 0.48 to 0.85). There was no beneficial effect of corticosteroid therapy in low-income countries.Subgroup analysis for study quality showed no effect of corticosteroids on severe hearing loss in high-quality studies.Corticosteroid treatment was associated with an increase in recurrent fever (RR 1.27, 95% CI 1.09 to 1.47), but not with other adverse events.
AUTHORS' CONCLUSIONS
Corticosteroids significantly reduced hearing loss and neurological sequelae, but did not reduce overall mortality. Data support the use of corticosteroids in patients with bacterial meningitis in high-income countries. We found no beneficial effect in low-income countries.
Topics: Acute Disease; Adolescent; Adult; Anti-Inflammatory Agents; Child; Developed Countries; Developing Countries; Dexamethasone; Glucocorticoids; Hearing Loss; Humans; Hydrocortisone; Meningitis, Bacterial; Prednisolone; Randomized Controlled Trials as Topic
PubMed: 26362566
DOI: 10.1002/14651858.CD004405.pub5 -
JAMA Otolaryngology-- Head & Neck... Feb 2018Epidemiologic research on the possible link between age-related hearing loss (ARHL) and cognitive decline and dementia has produced inconsistent results. Clarifying this... (Meta-Analysis)
Meta-Analysis
IMPORTANCE
Epidemiologic research on the possible link between age-related hearing loss (ARHL) and cognitive decline and dementia has produced inconsistent results. Clarifying this association is of interest because ARHL may be a risk factor for outcomes of clinical dementia.
OBJECTIVES
To examine and estimate the association between ARHL and cognitive function, cognitive impairment, and dementia through a systematic review and meta-analysis.
DATA SOURCES AND STUDY SELECTION
A search of PubMed, the Cochrane Library, EMBASE, and SCOPUS from inception to April 15, 2016, with cross-referencing of retrieved studies and personal files for potentially eligible studies was performed. Keywords included hearing, cognition, dementia, and Alzheimer disease. Cohort and cross-sectional studies published in peer-reviewed literature and using objective outcome measures were included. Case-control studies were excluded.
DATA EXTRACTION AND SYNTHESIS
One reviewer extracted and another verified data. Both reviewers independently assessed study quality. Estimates were pooled using random-effects meta-analysis. Subgroup and meta-regression analyses of study-level characteristics were performed.
MAIN OUTCOMES AND MEASURES
Hearing loss measured by pure-tone audiometry only and objective assessment measures of cognitive function, cognitive impairment, and dementia. Cognitive function outcomes were converted to correlation coefficients (r value); cognitive impairment and dementia outcomes, to odds ratios (ORs).
RESULTS
Forty studies from 12 countries met our inclusion criteria. Of these, 36 unique studies with an estimated 20 264 unique participants were included in the meta-analyses. Based on the pooled maximally adjusted effect sizes using random-effects models, a small but significant association was found for ARHL within all domains of cognitive function. Among cross-sectional studies, a significant association was found for cognitive impairment (OR, 2.00; 95% CI, 1.39-2.89) and dementia (OR, 2.42; 95% CI, 1.24-4.72). Among prospective cohort studies, a significant association was found for cognitive impairment (OR, 1.22; 95% CI, 1.09-1.36) and dementia (OR, 1.28; 95% CI, 1.02-1.59) but not for Alzheimer disease (OR, 1.69; 95% CI, 0.72-4.00). In further analyses, study, demographic, audiometric, and analyses factors were associated with cognitive function. Vascular dysfunction and impaired verbal communication may contribute to the association between hearing loss and cognitive decline.
CONCLUSIONS AND RELEVANCE
Age-related hearing loss is a possible biomarker and modifiable risk factor for cognitive decline, cognitive impairment, and dementia. Additional research and randomized clinical trials are warranted to examine implications of treatment for cognition and to explore possible causal mechanisms underlying this relationship.
Topics: Age Factors; Audiometry, Pure-Tone; Cognition; Cognitive Dysfunction; Dementia; Humans; Presbycusis; Risk Factors
PubMed: 29222544
DOI: 10.1001/jamaoto.2017.2513 -
JAMA Otolaryngology-- Head & Neck... Jan 2022Sudden sensorineural hearing loss (SSNHL) is an acute, usually unilateral deficit. Systemic and intratympanic steroids are accepted treatments. Although evidence... (Meta-Analysis)
Meta-Analysis
IMPORTANCE
Sudden sensorineural hearing loss (SSNHL) is an acute, usually unilateral deficit. Systemic and intratympanic steroids are accepted treatments. Although evidence suggests that hyperbaric oxygen therapy (HBOT) may be beneficial, it is not widely offered.
OBJECTIVES
To review and evaluate recent evidence of the association of HBOT with hearing outcomes in SSNHL and to determine if HBOT should be a single or part of a combination treatment regimen.
DATA SOURCES
Cochrane Central Register of Controlled Trials, PubMed, EMBASE, CINAHL, Web of Science, CAB, ICTRP, Google Scholar, Clinicaltrials.gov, and ISRCTN databases were searched for randomized controlled trials (RCTs) published in English from January 1, 2000, and April 30, 2020.
STUDY SELECTION
Prospective RCTs involving only adult participants (≥18 years) with SSNHL and comparing HBOT, as a single or combination therapy, with control therapies, such as steroids and/or placebo. Only RCTs that used the American Academy of Otolaryngology-Head and Neck Surgery's diagnostic criteria for SSNHL were included.
DATA EXTRACTION AND SYNTHESIS
Data were extracted independently by 2 researchers. A fixed-effects model was used for analysis and performed from November 30, 2020, to May 20, 2021.
MAIN OUTCOMES AND MEASURES
The mean difference in absolute hearing gain recorded by pure-tone audiometric (PTA) thresholds averaged across 4 low (0.5, 1, 2, and 3 or 4 kHz) or 3 high (3 or 4, 6, and 8 kHz) frequencies was the primary outcome. The secondary outcomes were the odds ratio of hearing recovery defined as a hearing gain of ≥10 decibels (dB) in PTA average and treatment-related adverse effects.
RESULTS
Of the 826 records initially identified, 358 duplicates and 451 articles were excluded based on article type, title, and abstract. The full texts of 17 articles were reviewed, of which 14 were excluded because they were either not prospective RCTs (11 articles), the participants were less than 18 years old (2 articles), or the PTA was not reported at frequencies of interest (1 article). Three prospective RCTs with a total of 88 participants who received HBOT in the intervention groups and 62 participants who received only medical therapy in the control groups were studied. The intergroup difference in mean absolute hearing gain (mean difference, 10.3 dB; 95% CI, 6.5-14.1 dB; I2 = 0%) and the odds ratio of hearing recovery (4.3; 95% CI, 1.6-11.7; I2 = 0%) favored HBOT over the control therapy.
CONCLUSIONS AND RELEVANCE
In this systematic review and meta-analysis, HBOT as part of a combination treatment was significantly associated with improved hearing outcomes in patients with SSNHL over control treatments.
TRIAL REGISTRATION
PROSPERO Identifier: CRD42020193191.
Topics: Audiometry, Pure-Tone; Combined Modality Therapy; Hearing Loss, Sensorineural; Hearing Loss, Sudden; Humans; Hyperbaric Oxygenation; Randomized Controlled Trials as Topic
PubMed: 34709348
DOI: 10.1001/jamaoto.2021.2685 -
Otolaryngology--head and Neck Surgery :... May 2020Social isolation and loneliness are associated with increased mortality and higher health care spending in older adults. Hearing loss is a common condition in older...
OBJECTIVE
Social isolation and loneliness are associated with increased mortality and higher health care spending in older adults. Hearing loss is a common condition in older adults and impairs communication and social interactions. The objective of this review is to summarize the current state of the literature exploring the association between hearing loss and social isolation and/or loneliness.
DATA SOURCES
PubMed, Embase, CINAHL Plus, PsycINFO, and the Cochrane Library.
REVIEW METHODS
Articles were screened for inclusion by 2 independent reviewers, with a third reviewer for adjudication. English-language studies of older adults with hearing loss that used a validated measure of social isolation or loneliness were included. A modified Newcastle-Ottawa Scale was used to assess the quality of the studies included in the review.
RESULTS
Of the 2495 identified studies, 14 were included in the review. Most of the studies (12/14) were cross-sectional. Despite the heterogeneity of assessment methods for hearing status (self-report or objective audiometry), loneliness, and social isolation, most multivariable-adjusted studies found that hearing loss was associated with higher risk of loneliness and social isolation. Several studies found an effect modification of gender such that among women, hearing loss was more strongly associated with loneliness and social isolation than among men.
CONCLUSIONS
Our findings that hearing loss is associated with loneliness and social isolation have important implications for the cognitive and psychosocial health of older adults. Future studies should investigate whether treating hearing loss can decrease loneliness and social isolation in older adults.
Topics: Aged; Hearing Loss; Humans; Loneliness; Middle Aged; Risk Factors; Social Isolation
PubMed: 32151193
DOI: 10.1177/0194599820910377 -
The Canadian Journal of Neurological... Mar 2022Extensive studies indicate that severe acute respiratory syndrome coronavirus (SARS-CoV-2) involves human sensory systems. A lack of discussion, however, exists given... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Extensive studies indicate that severe acute respiratory syndrome coronavirus (SARS-CoV-2) involves human sensory systems. A lack of discussion, however, exists given the auditory-vestibular system involvement in CoV disease 2019 (COVID-19). The present systematic review and meta-analysis were performed to determine the event rate (ER) of hearing loss, tinnitus, and dizziness caused by SARS-CoV-2.
METHODS
Databases (PubMed, ScienceDirect, Wiley) and World Health Organization updates were searched using combined keywords: 'COVID-19,' 'SARS-CoV-2,' 'pandemic,' 'auditory dysfunction,' 'hearing loss,' 'tinnitus,' 'vestibular dysfunction,' 'dizziness,' 'vertigo,' and 'otologic symptoms.'
RESULTS
Twelve papers met the eligibility criteria and were included in the study. These papers were single group prospective, cross-sectional, or retrospective studies on otolaryngologic, neurologic, or general clinical symptoms of COVID-19 and had used subjective assessments for data collection (case histories/medical records). The results of the meta-analysis demonstrate that the ER of hearing loss (3.1%, CIs: 0.01-0.09), tinnitus (4.5%, CIs: 0.012-0.153), and dizziness (12.2%, CIs: 0.070-0.204) is statistically significant in patients with COVID-19 (Z ≤ -4.469, p ≤ 0.001).
CONCLUSIONS
COVID-19 can cause hearing loss, tinnitus, and dizziness. These findings, however, should be interpreted with caution given insufficient evidence and heterogeneity among studies. Well-designed studies and follow-up assessments on otologic symptoms of SARS-CoV-2 using standard objective tests are recommended.
Topics: COVID-19; Cross-Sectional Studies; Dizziness; Hearing Loss; Humans; Prospective Studies; Retrospective Studies; SARS-CoV-2; Tinnitus; Vertigo
PubMed: 33843530
DOI: 10.1017/cjn.2021.63 -
JAMA Neurology Sep 2022To date, no systematic review has taken a meta-analytic approach to estimating the prevalence and incidence of tinnitus in the general population. (Meta-Analysis)
Meta-Analysis
IMPORTANCE
To date, no systematic review has taken a meta-analytic approach to estimating the prevalence and incidence of tinnitus in the general population.
OBJECTIVE
To provide frequency estimates of tinnitus worldwide.
DATA SOURCES
An umbrella review followed by a traditional systematic review was performed by searching PubMed-MEDLINE and Embase from inception through November 19, 2021.
STUDY SELECTION
Research data from the general population were selected, and studies based on patients or on subgroups of the population with selected lifestyle habits were excluded. No restrictions were applied according to date, age, sex, and country.
DATA EXTRACTION AND SYNTHESIS
Relevant extracted information included type of study, time and location, end point, population characteristics, and tinnitus definition. The study followed the Meta-analysis of Observational Studies in Epidemiology (MOOSE) reporting guideline.
MAIN OUTCOMES AND MEASURES
Pooled prevalence estimates of any tinnitus, severe tinnitus, chronic tinnitus, and diagnosed tinnitus as well as incidence of tinnitus were obtained using random-effects meta-analytic models; heterogeneity between studies was controlled using the χ2 test, and inconsistency was measured using the I2 statistic.
RESULTS
Among 767 publications, 113 eligible articles published between 1972 and 2021 were identified, and prevalence estimates from 83 articles and incidence estimates from 12 articles were extracted. The pooled prevalence of any tinnitus among adults was 14.4% (95% CI, 12.6%-16.5%) and ranged from 4.1% (95% CI, 3.7%-4.4%) to 37.2% (95% CI, 34.6%-39.9%). Prevalence estimates did not significantly differ by sex (14.1% [95% CI, 11.6%-17.0%] among male individuals; 13.1% [95% CI, 10.5%-16.2%] among female individuals), but increased prevalence was associated with age (9.7% [95% CI, 7.4%-12.5%] among adults aged 18-44 years; 13.7% [95% CI, 11.0%-17.0%] among those aged 45-64 years; and 23.6% [95% CI, 19.4%-28.5%] among those aged ≥65 years; P < .001 among age groups). The pooled prevalence of severe tinnitus was 2.3% (95% CI, 1.7%-3.1%), ranging from 0.5% (95% CI, 0.3%-0.7%) to 12.6% (95% CI, 11.1%-14.1%). The pooled prevalence of chronic tinnitus was 9.8% (95% CI, 4.7%-19.3%) and the pooled prevalence of diagnosed tinnitus was 3.4% (95% CI, 2.1%-5.5%). The pooled incidence rate of any tinnitus was 1164 per 100 000 person-years (95% CI, 479-2828 per 100 000 person-years).
CONCLUSIONS AND RELEVANCE
Despite the substantial heterogeneity among studies, this comprehensive systematic review on the prevalence and incidence of tinnitus suggests that tinnitus affects more than 740 million adults globally and is perceived as a major problem by more than 120 million people, mostly aged 65 years or older. Health policy makers should consider the global burden of tinnitus, and greater effort should be devoted to boost research on tinnitus.
Topics: Female; Humans; Incidence; Male; Prevalence; Tinnitus
PubMed: 35939312
DOI: 10.1001/jamaneurol.2022.2189 -
The Cochrane Database of Systematic... Nov 2022Perception is the ability to understand information from our senses. It allows us to experience and meaningfully interact with our environment. A stroke may impair... (Review)
Review
BACKGROUND
Perception is the ability to understand information from our senses. It allows us to experience and meaningfully interact with our environment. A stroke may impair perception in up to 70% of stroke survivors, leading to distress, increased dependence on others, and poorer quality of life. Interventions to address perceptual disorders may include assessment and screening, rehabilitation, non-invasive brain stimulation, pharmacological and surgical approaches.
OBJECTIVES
To assess the effectiveness of interventions aimed at perceptual disorders after stroke compared to no intervention or control (placebo, standard care, attention control), on measures of performance in activities of daily living. SEARCH METHODS: We searched the trials registers of the Cochrane Stroke Group, CENTRAL, MEDLINE, Embase, and three other databases to August 2021. We also searched trials and research registers, reference lists of studies, handsearched journals, and contacted authors.
SELECTION CRITERIA
We included randomised controlled trials (RCTs) of adult stroke survivors with perceptual disorders. We defined perception as the specific mental functions of recognising and interpreting sensory stimuli and included hearing, taste, touch, smell, somatosensation, and vision. Our definition of perception excluded visual field deficits, neglect/inattention, and pain.
DATA COLLECTION AND ANALYSIS
One review author assessed titles, with two review authors independently screening abstracts and full-text articles for eligibility. One review author extracted, appraised, and entered data, which were checked by a second author. We assessed risk of bias (ROB) using the ROB-1 tool, and quality of evidence using GRADE. A stakeholder group, comprising stroke survivors, carers, and healthcare professionals, was involved in this review update.
MAIN RESULTS
We identified 18 eligible RCTs involving 541 participants. The trials addressed touch (three trials, 70 participants), somatosensory (seven trials, 196 participants) and visual perception disorders (seven trials, 225 participants), with one (50 participants) exploring mixed touch-somatosensory disorders. None addressed stroke-related hearing, taste, or smell perception disorders. All but one examined the effectiveness of rehabilitation interventions; the exception evaluated non-invasive brain stimulation. For our main comparison of active intervention versus no treatment or control, one trial reported our primary outcome of performance in activities of daily living (ADL): Somatosensory disorders: one trial (24 participants) compared an intervention with a control intervention and reported an ADL measure. Touch perception disorder: no trials measuring ADL compared an intervention with no treatment or with a control intervention. Visual perception disorders: no trials measuring ADL compared an intervention with no treatment or control. In addition, six trials reported ADL outcomes in a comparison of active intervention versus active intervention, relating to somatosensation (three trials), touch (one trial) and vision (two trials). AUTHORS' CONCLUSIONS: Following a detailed, systematic search, we identified limited RCT evidence of the effectiveness of interventions for perceptual disorders following stroke. There is insufficient evidence to support or refute the suggestion that perceptual interventions are effective. More high-quality trials of interventions for perceptual disorders in stroke are needed. They should recruit sufficient participant numbers, include a 'usual care' comparison, and measure longer-term functional outcomes, at time points beyond the initial intervention period. People with impaired perception following a stroke should continue to receive neurorehabilitation according to clinical guidelines.
Topics: Adult; Humans; Activities of Daily Living; Perceptual Disorders; Stroke; Stroke Rehabilitation; Vision Disorders; Randomized Controlled Trials as Topic
PubMed: 36326118
DOI: 10.1002/14651858.CD007039.pub3 -
JAMA Neurology Feb 2023Hearing loss is associated with cognitive decline. However, it is unclear if hearing restorative devices may have a beneficial effect on cognition. (Meta-Analysis)
Meta-Analysis
IMPORTANCE
Hearing loss is associated with cognitive decline. However, it is unclear if hearing restorative devices may have a beneficial effect on cognition.
OBJECTIVE
To evaluate the associations of hearing aids and cochlear implants with cognitive decline and dementia.
DATA SOURCES
PubMed, Embase, and Cochrane databases for studies published from inception to July 23, 2021.
STUDY SELECTION
Randomized clinical trials or observational studies published as full-length articles in peer-reviewed journals relating to the effect of hearing interventions on cognitive function, cognitive decline, cognitive impairment, and dementia in patients with hearing loss.
DATA EXTRACTION AND SYNTHESIS
The review was conducted in accordance with Preferred Reporting Items for Systematic Review and Meta-analyses (PRISMA) reporting guidelines. Two authors independently searched the PubMed, Embase, and Cochrane databases for studies relating to the effect of hearing interventions on cognitive decline and dementia in patients with hearing loss.
MAIN OUTCOMES AND MEASURES
Maximally adjusted hazard ratios (HRs) were used for dichotomous outcomes and ratio of means for continuous outcomes. Sources of heterogeneity were investigated using sensitivity and subgroup analyses, and publication bias was assessed using visual inspection, the Egger test, and trim and fill.
RESULTS
A total of 3243 studies were screened; 31 studies (25 observational studies, 6 trials) with 137 484 participants were included, of which 19 (15 observational studies, 4 trials) were included in quantitative analyses. Meta-analysis of 8 studies, which had 126 903 participants, had a follow-up duration ranging from 2 to 25 years, and studied long-term associations between hearing aid use and cognitive decline, showed significantly lower hazards of any cognitive decline among hearing aid users compared with participants with uncorrected hearing loss (HR, 0.81; 95% CI, 0.76-0.87; I2 = 0%). Additionally, meta-analysis of 11 studies with 568 participants studying the association between hearing restoration and short-term cognitive test score changes revealed a 3% improvement in short-term cognitive test scores after the use of hearing aids (ratio of means, 1.03; 95% CI, 1.02-1.04, I2 = 0%).
CONCLUSIONS AND RELEVANCE
In this meta-analysis, the usage of hearing restorative devices by participants with hearing loss was associated with a 19% decrease in hazards of long-term cognitive decline. Furthermore, usage of these devices was significantly associated with a 3% improvement in cognitive test scores that assessed general cognition in the short term. A cognitive benefit of hearing restorative devices should be further investigated in randomized trials.
Topics: Humans; Hearing Aids; Cochlear Implants; Cognitive Dysfunction; Hearing Loss; Dementia
PubMed: 36469314
DOI: 10.1001/jamaneurol.2022.4427 -
Survey of Ophthalmology 2023Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including... (Review)
Review
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus. We summarize current literature, define the clinical characteristics, and investigate potential genotype phenotype correlations. A systematic literature search was conducted in electronic databases Pubmed/MEDLINE, EMBACE, and Cochrane Library. We included studies reporting patients with a clinical picture consisting at least 2 typical clinical manifestations of WSF1 disorders and heterozygous mutations in WFS1. In total, 86 patients from 35 studies were included. The most common phenotype consisted of the combination of optic atrophy (87%) and hearing impairment (94%). Diabetes mellitus was seen in 44% of the patients. Nineteen percent developed cataract. Patients with missense mutations in WFS1 had a lower number of clinical manifestations, less chance of developing diabetes insipidus, but a younger age at onset of hearing impairment compared to patients with nonsense mutations or deletions causing frameshift. There were no studies reporting decreased life expectancy. This review shows that, within the spectrum of WFS1-associated disorders or "wolframinopathies," autosomal dominantly inherited WFLS has a relatively mild phenotype compared to autosomal recessive WS. The clinical manifestations and their age at onset are associated with the specific underlying mutations in the WFS1 gene.
Topics: Humans; Hearing Loss; Mutation; Optic Atrophy; Tungsten; Wolfram Syndrome
PubMed: 36764396
DOI: 10.1016/j.survophthal.2023.01.012