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Clinical Genetics Jun 2024HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. An autosomal dominant disease caused by heterozygous pathogenic GATA3...
HDR syndrome is a rare disease characterized by hypoparathyroidism, deafness, and renal dysplasia. An autosomal dominant disease caused by heterozygous pathogenic GATA3 variants, the penetrance of each associated condition is variable. Literature reviews have provided some answers, but many questions remain, in particular what the relationship is between genotype and phenotype. The current study examines 28 patients with HDR syndrome combined with an exhaustive review of the literature. Some conditions such as hearing loss are almost always present, while others described as rare initially, do not seem to be so rare after all (genital malformations and basal ganglia calcifications). By modeling pathogenic GATA3 variants found in HDR syndrome, we found that missense variations appear to always be located in the same area (close to the two Zinc Finger domain). We describe new pathogenic GATA3 variants, of which some seem to always be associated with certain conditions. Many audiograms were studied to establish a typical audiometric profile associated with a phenotype in HDR. As mentioned in the literature, hearing function should always be assessed as early as possible and follow up of patients with HDR syndrome should include monitoring of parathyroid function and vesicoureteral reflux in order to prevent complications.
PubMed: 38940299
DOI: 10.1111/cge.14583 -
Otology & Neurotology : Official... Jun 2024To determine the cost-effectiveness or cost-utility of cochlear implants (CI) in adults with severe to profound bilateral hearing loss.
OBJECTIVE
To determine the cost-effectiveness or cost-utility of cochlear implants (CI) in adults with severe to profound bilateral hearing loss.
DATABASES REVIEWED
PubMed (Medline), The Cochrane Library, Embase via Elsevier, EBSCOhost CINAHL, and Scopus.
METHODS
The study included adult participants with severe to profound bilateral neurosensory hearing loss. The analysis encompassed quality of life improvements, costs, cost-effectiveness, cost-utility, cost-benefit, quality-adjusted life year (QALY), incremental cost-effectiveness ratio (ICER), and incremental cost-utility ratio (ICUR). Systematic reviews, meta-analyses, case series, and prospective or retrospective cohort studies published in English between 2010 and 2023 were retrieved. Exclusion criteria included incomplete studies, abstracts, clinical cases, editorials, letters, studies involving pediatric populations, single-side deafness, methodology research, noneconomic aspects of CI, mixed child and adult data, and studies published before 2010. The risk of bias was assessed following the criteria outlined in Appendix I of the economic evaluation's quality assessment as per the NICE Guideline Development Method.
RESULTS
Ten articles met the criteria and were included in the qualitative synthesis. One study conducted a prospective cost-utility analyses, one carried out a cost-benefit analyses, one was a randomized controlled clinical trial focusing on cost-utility, and another was a clinical trial addressing cost-effectiveness. Six studies employed Markov models, and one study utilized uniquely the Monte Carlo method. None quantified the economic impact of improved hearing on cognitive function.
CONCLUSIONS
The heterogeneity of sources impacted data quality. Unilateral and sequential bilateral CI appeared to be cost-effective when compared with bilateral hearing aids or nontechnological support. When properly indicated, simultaneous bilateral CIs are cost-effective compared to no interventions and to unilateral cochlear implantation through differential discounting or variations from the base cases, especially with a life expectancy of 5-10 years or longer.
PubMed: 38896785
DOI: 10.1097/MAO.0000000000004225 -
Ear, Nose, & Throat Journal Jun 2024To analyze the etiology, diagnosis, and treatment of unexplained conductive hearing loss (UCHL) with intact tympanic membrane. A systematic review was conducted based... (Review)
Review
To analyze the etiology, diagnosis, and treatment of unexplained conductive hearing loss (UCHL) with intact tympanic membrane. A systematic review was conducted based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 642 articles were retrieved from databases such as PubMed, Embase, Web of Science, and Cochrane. Fifty-four research articles and 21 case reports were screened out according to the inclusion and exclusion criteria for analysis of the etiology of UCHL. Seven research articles with UCHL who underwent exploratory tympanotomy were selected for data extraction and analysis of clinical characteristics. UCHL is a common manifestation of various diseases, including congenital ossicular anomalies (COA), otosclerosis (OTS), congenital middle ear cholesteatoma (CMEC), oval window atresia, superior semicircular-canal dehiscence, congenital stapedial footplate fixation, middle ear osteoma or adenoma, congenital ossification of stapedial tendon, and so on. A total of 522 patients were included in the 7 articles; among whom OTS showed a tendency to increase with age. The main symptoms were hearing loss, followed by tinnitus, dizziness, ear fullness, ear pain, facial paralysis. A total of 87.5% to 93.0% patients with COA manifested as nonprogressive deafness that occurred since childhood, with tinnitus incidence of 15.6% to 30.2%, and 86.4% to 96.4% patients with OTS presented with progressive hearing loss, with tinnitus incidence of 60.1% to 90.9%. The diagnosis positive rate of high-resolution computed tomography (HRCT) was 33.8% to 87.1%, and CMEC was higher than that of COA (83.3%-100% vs 28.6%-64%). All the articles reported good hearing recovery. The most common surgical complications included taste abnormalities, tinnitus, and dizziness. UCHL presents with similar clinical manifestations and poses challenges in preoperative diagnosis. Exploratory tympanotomy is the primary method for diagnosis and treatment, with good prognosis after removing the lesion and reconstructing hearing during the operation. Children can also safely undergo the surgery.
PubMed: 38895947
DOI: 10.1177/01455613241262129 -
Research in Developmental Disabilities Jun 2024There are few studies that have explored the Quality of Life (QoL) for deaf adolescents in high school (13-18 years). Following the PRISMA guidelines, this systematic... (Review)
Review
There are few studies that have explored the Quality of Life (QoL) for deaf adolescents in high school (13-18 years). Following the PRISMA guidelines, this systematic literature review examined peer-reviewed research that has explored QoL for deaf adolescents in high school by using databases such as Science Citation Index, Scopus and Social Science Citation Index in addition to some related journals such as American Annals of the Deaf, the Journal of Deaf Studies and Deaf Education, Ear and Hearing, and Deafness and Education International spanning 14 years (2010-2024). By analysing the titles, abstracts, and keywords and reading full manuscripts, only seven were deemed appropriate for inclusion in this systematic review. All seven studies used quantitative research. This systematic review found that there is a discrepancy between the studies included in the use of measures. The results of the studies are different and some are contradictory. The QoL concept also differed amongst the studies. This study concluded that there is a great need to conduct more research into the QoL of deaf adolescents in high school with diverse research methods and the use of qualitative or mixed research, as well as expanding the scope of studies to include more dimensions in the concept of QoL.
PubMed: 38852235
DOI: 10.1016/j.ridd.2024.104764 -
Frontiers in Psychology 2024The impact of deafness on visual attention has been widely discussed in previous research. It has been noted that deficiencies and strengths of previous research can be...
The impact of deafness on visual attention has been widely discussed in previous research. It has been noted that deficiencies and strengths of previous research can be attributed to temporal or spatial aspects of attention, as well as variations in development and clinical characteristics. Visual attention is categorized into three networks: orienting (exogenous and endogenous), alerting (phasic and tonic), and executive control. This study aims to contribute new neuroscientific evidence supporting this hypothesis. This paper presents a systematic review of the international literature from the past 15 years focused on visual attention in the deaf population. The final review included 24 articles. The function of the orienting network is found to be enhanced in deaf adults and children, primarily observed in native signers without cochlear implants, while endogenous orienting is observed only in the context of gaze cues in children, with no differences found in adults. Results regarding alerting and executive function vary depending on clinical characteristics and paradigms used. Implications for future research on visual attention in the deaf population are discussed.
PubMed: 38800679
DOI: 10.3389/fpsyg.2024.1369941 -
BMJ Open Apr 2024The objective of this study is to determine the relationship between serum vitamin D level and the risk of developing benign paroxysmal positional vertigo (BPPV)... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
The objective of this study is to determine the relationship between serum vitamin D level and the risk of developing benign paroxysmal positional vertigo (BPPV) incidence and recurrence in countries in the Northern Hemisphere.
DESIGN
Systematic review and meta-analysis.
DATA SOURCES
PubMed, Scopus and Web of Science databases were searched for studies published between January 2000 and February 2023.
ELIGIBILITY CRITERIA FOR SELECTING STUDIES
Participants located in the Northern Hemisphere aged 18 or over with at least one episode of BPPV, serum 25-hydroxyvitamin D levels measured and reported, no comorbidities or history of vitamin D supplementation.
DATA EXTRACTION AND SYNTHESIS
Data extraction and synthesis were performed by a single reviewer and checked by a second reviewer. Inclusion and exclusion criteria and risk of bias were assessed by two independent reviewers using the Newcastle Ottawa Tool for Cohort studies and Risk of Bias Assessment Tool for Nonrandomised Studies checklist for case-control studies. Meta-analysis was conducted using random effects models. Standard mean difference with a 95% CI was used to measure the relationship between vitamin D level and BPPV.
RESULTS
The 35 articles identified by the literature search reported data of 9843 individuals. 19 studies (7387 individuals) were included in the BPPV incidence meta-analysis while 7 studies (622 individuals) were included in the BPPV recurrence meta-analysis. Lower serum vitamin D levels were found in BPPV incidence compared with controls, but the relationship between vitamin D levels in recurrent BPPV compared with non-recurrent disease remained uncertain.
CONCLUSION
Results of this systematic review and meta-analysis demonstrated a negative correlation between serum vitamin D and BPPV incidence, while any relationship between serum vitamin D and BPPV recurrence remained uncertain. Risk of bias analysis revealed evidence of variable quality. There were insufficient data available to evaluate seasonal relationships between serum vitamin D and BPPV. Given the potential for this as a confounding factor, future research should aim to investigate this further.
PROSPERO REGISTRATION NUMBER
CRD42021271840.
Topics: Humans; Benign Paroxysmal Positional Vertigo; Vitamin D Deficiency; Recurrence; Incidence; Vitamin D
PubMed: 38653514
DOI: 10.1136/bmjopen-2023-077986 -
BMC Primary Care Mar 2024Early detection of long-term, often asymptomatic, middle ear infection in young Aboriginal and Torres Strait Islander children is more likely to be achieved when ear...
Development of the national consensus statement on ear health and hearing check recommendations for Aboriginal and Torres Strait Islander children aged under 6 years attending primary care: systematic scoping review and e-Delphi.
BACKGROUND
Early detection of long-term, often asymptomatic, middle ear infection in young Aboriginal and Torres Strait Islander children is more likely to be achieved when ear health and hearing checks are routinely undertaken in primary healthcare. Evidence consistently demonstrates the adverse impacts of this condition on the development and wellbeing of children and their families. We aimed to develop feasible, evidence- and consensus-based primary healthcare recommendations addressing the components and timing of ear health and hearing checks for Aboriginal and Torres Strait Islander children aged under 6 years, not already known to have, nor being actively managed for, ear and hearing problems.
METHODS
A 22-person working group comprising Aboriginal and Torres Strait Islander and non-Indigenous members from the primary healthcare, ear, hearing, and research sectors provided guidance of the project. A systematic scoping review addressed research questions relating to primary health ear health and hearing checks for Aboriginal and Torres Strait Islander and other populations at increased risk of persistent ear health problems. Twelve primary studies and eleven guidelines published between 1998 and 2020 were identified and reviewed. Quality and certainty of evidence and risk of bias ratings were completed for studies and guidelines. In the absence of certain and direct evidence, findings and draft recommendations were presented for consensus input to a 79-member expert panel using a modified e-Delphi process. Recommendations were finalised in consultation with working group members and presented to expert panel members for input on considerations relating to implementation.
RESULTS
Overall, the quality, certainty, and directness of evidence in the studies and guidelines reviewed was low. However, the findings provided a basis and structure for the draft recommendations presented during the consensus-building process. After two e-Delphi rounds, seven goals and eight recommendations on the components and timing of Ear Health and Hearing Checks in primary healthcare for young Aboriginal and Torres Strait Islander children were developed.
CONCLUSIONS
The systematic scoping review and consensus-building process provided a pragmatic approach for producing strong recommendations within a reasonably short timeframe, despite the low quality and certainty of evidence, and paucity of studies pertaining to primary healthcare settings.
Topics: Child; Humans; Australian Aboriginal and Torres Strait Islander Peoples; Hearing; Deafness; Consensus; Persistent Infection; Primary Health Care
PubMed: 38486181
DOI: 10.1186/s12875-024-02307-6 -
The European Journal of Neuroscience May 2024Auditory deprivation following congenital/pre-lingual deafness (C/PD) can drastically affect brain development and its functional organisation. This systematic review...
Auditory deprivation following congenital/pre-lingual deafness (C/PD) can drastically affect brain development and its functional organisation. This systematic review intends to extend current knowledge of the impact of C/PD and deafness duration on brain resting-state networks (RSNs), review changes in RSNs and spoken language outcomes post-cochlear implant (CI) and draw conclusions for future research. The systematic literature search followed the PRISMA guideline. Two independent reviewers searched four electronic databases using combined keywords: 'auditory deprivation', 'congenital/prelingual deafness', 'resting-state functional connectivity' (RSFC), 'resting-state fMRI' and 'cochlear implant'. Seventeen studies (16 cross-sectional and one longitudinal) met the inclusion criteria. Using the Crowe Critical Appraisal Tool, the publications' quality was rated between 65.0% and 92.5% (mean: 84.10%), ≥80% in 13 out of 17 studies. A few studies were deficient in sampling and/or ethical considerations. According to the findings, early auditory deprivation results in enhanced RSFC between the auditory network and brain networks involved in non-verbal communication, and high levels of spontaneous neural activity in the auditory cortex before CI are evidence of occupied auditory cortical areas with other sensory modalities (cross-modal plasticity) and sub-optimal CI outcomes. Overall, current evidence supports the idea that moreover intramodal and cross-modal plasticity, the entire brain adaptation following auditory deprivation contributes to spoken language development and compensatory behaviours.
Topics: Humans; Deafness; Cochlear Implantation; Brain; Nerve Net; Magnetic Resonance Imaging; Auditory Cortex; Cochlear Implants; Treatment Outcome
PubMed: 38441248
DOI: 10.1111/ejn.16295 -
Otology & Neurotology : Official... Apr 2024To examine the otologic and neurotologic symptoms, physical examination findings, and imaging features secondary to hematologic malignancies. (Review)
Review
OBJECTIVE
To examine the otologic and neurotologic symptoms, physical examination findings, and imaging features secondary to hematologic malignancies.
METHODS
Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, databases, including PubMed, Scopus, and CINAHL, were searched for articles including patients with otologic manifestations of leukemia, lymphoma and multiple myeloma. Data collected included patient and study demographics, specific hematologic malignancy, timing and classification of otologic symptoms, physical examination findings, imaging features and methods of diagnosis. Pooled descriptive analysis was performed.
RESULTS
Two hundred seventy-two articles, of which 255 (93.8%) were case reports and 17 (6.2%) were case series, reporting on 553 patients were identified. Otologic manifestations were reported on 307 patients with leukemia, 204 patients with lymphoma and 42 patients with multiple myeloma. Hearing loss and unilateral facial palsy were the most common presenting symptoms for 111 reported subjects with leukemia (n = 46, 41.4%; n = 43, 38.7%) and 90 with lymphoma (n = 38, 42.2%; n = 39, 43.3%). Hearing loss and otalgia were the most common presenting symptoms for 21 subjects with multiple myeloma (n = 10, 47.6%; n = 6, 28.6%). Hearing loss and unilateral facial palsy were the most common otologic symptoms indicative of relapse in subjects with leukemia (n = 14, 43.8%) and lymphoma (n = 5, 50%).
CONCLUSION
Hearing loss, facial palsy, and otalgia might be the first indication of a new diagnosis or relapse of leukemia, lymphoma, or multiple myeloma. Clinicians should have a heightened level of suspicion of malignant etiologies of otologic symptoms in patients with current or medical histories of these malignancies.
Topics: Humans; Earache; Facial Paralysis; Multiple Myeloma; Hearing Loss; Hematologic Neoplasms; Deafness; Leukemia; Bell Palsy; Lymphoma; Recurrence
PubMed: 38437804
DOI: 10.1097/MAO.0000000000004141 -
Otolaryngology--head and Neck Surgery :... Jun 2024To elucidate the differences in auditory performance between auditory brainstem implant (ABI) patients with tumor or nontumor etiologies. (Review)
Review
OBJECTIVE
To elucidate the differences in auditory performance between auditory brainstem implant (ABI) patients with tumor or nontumor etiologies.
DATA SOURCES
PubMed, Embase, and Web of Science Core Collection from 1990 to 2021.
REVIEW METHODS
We included published studies with 5 or more pediatric or adult ABI users. Auditory outcomes and side effects were analyzed with weighted means for closed-set, open-set speech, and categories of auditory performance (CAP) scores. Overall performance was compared using an Adult Pediatric Ranked Order Speech Perception (APROSPER) scale created for this study.
RESULTS
Thirty-six studies were included and underwent full-text review. Data were extracted for 662 tumor and 267 nontumor patients. 83% were postlingually deafened and 17% were prelingually deafened. Studies that included tumor ABI patients had a weighted mean speech recognition of 39.2% (range: 19.6%-83.3%) for closed-set words, 23.4% (range: 17.2%-37.5%) for open-set words, 21.5% (range: 2.7%-48.4%) for open-set sentences, and 3.1 (range: 1.0-3.2) for CAP scores. Studies including nontumor ABI patients had a weighted mean speech recognition of 79.8% (range: 31.7%-84.4%) for closed-set words, 53.0% (range: 14.6%-72.5%) for open-set sentences, and 2.30 (range: 2.0-4.7) for CAP scores. Mean APROSPER results indicate better auditory performance among nontumor versus tumor patients (3.5 vs 3.0, P = .04). Differences in most common side effects were also observed between tumor and nontumor ABI patients.
CONCLUSION
Auditory performance is similar for tumor and nontumor patients for standardized auditory test scores. However, the APROSPER scale demonstrates better ABI performance for nontumor compared to tumor patients.
Topics: Adult; Humans; Auditory Brain Stem Implants; Deafness; Speech Perception; Treatment Outcome; Child
PubMed: 38329219
DOI: 10.1002/ohn.662