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Genetics in Medicine : Official Journal... Sep 2022Genes associated with nonsyndromic hearing loss are commonly included in reproductive carrier screening panels, which are now routinely offered in preconception and... (Review)
Review
PURPOSE
Genes associated with nonsyndromic hearing loss are commonly included in reproductive carrier screening panels, which are now routinely offered in preconception and prenatal care in many countries. However, there is debate whether hearing loss should be considered a medical condition appropriate for screening. This systematic review assessed research on opinions of those with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting.
METHODS
Search of 5 online databases yielded 423 articles, 20 of which met inclusion criteria. We assessed the quality of each study, extracted data, and performed thematic analysis on qualitative studies.
RESULTS
Most studies indicated interest in the use of prenatal diagnosis for deafness. However, there were mixed views, and sometimes strongly held views, expressed regarding the reproductive options that should be available to those with an increased chance of having a child with deafness. Studies were small, from a limited number of countries, and most were too old to include views regarding preimplantation genetic testing.
CONCLUSION
There is a broad range of views regarding the use of reproductive options for deafness. Further research is essential to explore the benefits and harms of including nonsyndromic hearing loss genes in carrier screening.
Topics: Child; Deafness; Female; Genetic Testing; Humans; Pregnancy; Prenatal Diagnosis; Reproduction
PubMed: 35659827
DOI: 10.1016/j.gim.2022.05.005 -
Frontiers in Neuroscience 2022Neuroplasticity following deafness has been widely demonstrated in both humans and animals, but the anatomical substrate of these changes is not yet clear in human...
Neuroplasticity following deafness has been widely demonstrated in both humans and animals, but the anatomical substrate of these changes is not yet clear in human brain. However, it is of high importance since hearing loss is a growing problem due to aging population. Moreover, knowing these brain changes could help to understand some disappointing results with cochlear implant, and therefore could improve hearing rehabilitation. A systematic review and a coordinate-based meta-analysis were realized about the morphological brain changes highlighted by MRI in severe to profound hearing loss, congenital and acquired before or after language onset. 25 papers were included in our review, concerning more than 400 deaf subjects, most of them presenting prelingual deafness. The most consistent finding is a volumetric decrease in gray matter around bilateral auditory cortex. This change was confirmed by the coordinate-based meta-analysis which shows three converging clusters in this region. The visual areas of deaf children is also significantly impacted, with a decrease of the volume of both gray and white matters. Finally, deafness is responsible of a gray matter increase within the cerebellum, especially at the right side. These results are largely discussed and compared with those from deaf animal models and blind humans, which demonstrate for example a much more consistent gray matter decrease along their respective primary sensory pathway. In human deafness, a lot of other factors than deafness could interact on the brain plasticity. One of the most important is the use of sign language and its age of acquisition, which induce among others changes within the hand motor region and the visual cortex. But other confounding factors exist which have been too little considered in the current literature, such as the etiology of the hearing impairment, the speech-reading ability, the hearing aid use, the frequent associated vestibular dysfunction or neurocognitive impairment. Another important weakness highlighted by this review concern the lack of papers about postlingual deafness, whereas it represents most of the deaf population. Further studies are needed to better understand these issues, and finally try to improve deafness rehabilitation.
PubMed: 35418829
DOI: 10.3389/fnins.2022.850245 -
Trials Mar 2021This systematic review aimed to identify, compare and contrast outcome domains and outcome instruments reported in studies investigating interventions that seek to... (Review)
Review
Systematic review of outcome domains and instruments used in designs of clinical trials for interventions that seek to restore bilateral and binaural hearing in adults with unilateral severe to profound sensorineural hearing loss ('single-sided deafness').
BACKGROUND
This systematic review aimed to identify, compare and contrast outcome domains and outcome instruments reported in studies investigating interventions that seek to restore bilateral (two-sided) and/or binaural (both ears) hearing in adults with single-sided deafness (SSD). Findings can inform the development of evidence-based guidance to facilitate design decisions for confirmatory trials.
METHODS
Records were identified by searching MEDLINE, EMBASE, PubMed, CINAHL, ClinicalTrials.gov, ISRCTN, CENTRAL, WHO ICTRP and the NIHR UK clinical trials gateway. The search included records published from 1946 to March 2020. Included studies were those as follows: (a) recruiting adults aged 18 years or older diagnosed with SSD of average threshold severity worse than 70 dB HL in the worse-hearing ear and normal (or near-normal) hearing in the better-hearing ear, (b) evaluating interventions to restore bilateral and/or binaural hearing and (c) enrolling those adults in a controlled trial, before-and-after study or cross-over study. Studies that fell just short of the participant eligibility criteria were included in a separate sensitivity analysis.
RESULTS
Ninety-six studies were included (72 full inclusion, 24 sensitivity analysis). For fully included studies, 37 exclusively evaluated interventions to re-establish bilateral hearing and 29 exclusively evaluated interventions to restore binaural hearing. Overall, 520 outcome domains were identified (350 primary and 170 secondary). Speech-related outcome domains were the most common (74% of studies), followed by spatial-related domains (60% of studies). A total of 344 unique outcome instruments were reported. Speech-related outcome domains were measured by 73 different instruments and spatial-related domains by 43 different instruments. There was considerable variability in duration of follow-up, ranging from acute (baseline) testing to 10 years after the intervention. The sensitivity analysis identified no additional outcome domains.
CONCLUSIONS
This review identified large variability in the reporting of outcome domains and instruments in studies evaluating the therapeutic benefits and harms of SSD interventions. Reports frequently omitted information on what domains the study intended to assess, and on what instruments were used to measure which domains.
TRIAL REGISTRATION
The systematic review protocol is registered on PROSPERO (International Prospective Register of Systematic Reviews): Registration Number CRD42018084274 . Registered on 13 March 2018, last revised on 7th of May 2019.
Topics: Adult; Cochlear Implantation; Cross-Over Studies; Deafness; Hearing; Hearing Loss, Sensorineural; Humans; Speech Perception
PubMed: 33743802
DOI: 10.1186/s13063-021-05160-5 -
Frontiers in Genetics 2021Mutations in the STRC (MIM 606440) gene, inducing DFNB16, are considered a major cause of mild-moderate autosomal recessive non-syndromic hearing loss (ARNSHL). We...
Mutations in the STRC (MIM 606440) gene, inducing DFNB16, are considered a major cause of mild-moderate autosomal recessive non-syndromic hearing loss (ARNSHL). We conducted a systematic review and meta-analysis to determine the global prevalence and characteristics of STRC variations, important information required for genetic counseling. PubMed, Google Scholar, Medline, Embase, and Web of Science were searched for relevant articles published before January 2021. The pooled prevalence of DFNB16 in GJB2-negative patients with hearing loss was 4.08% (95% CI: 0.0289-0.0573), and the proportion of STRC variants in the mild-moderate hearing loss group was 14.36%. Monoallelic mutations of STRC were 4.84% (95% CI: 0.0343-0.0680) in patients with deafness (non-GJB2) and 1.36% (95% CI: 0.0025-0.0696) in people with normal hearing. The DFNB16 prevalence in genetically confirmed patients (non-GJB2) was 11.10% (95% CI: 0.0716-0.1682). Overall pooled prevalence of deafness-infertility syndrome (DIS) was 36.75% (95% CI: 0.2122-0.5563) in DFNB16. The prevalence of biallelic deletions in STRC gene mutations was 70.85% (95% CI: 0.5824-0.8213). Variants in the STRC gene significantly contribute to mild-moderate hearing impairment. Moreover, biallelic deletions are a main feature of STRC mutations. Copy number variations associated with infertility should be seriously considered when investigating DFNB16.
PubMed: 34621290
DOI: 10.3389/fgene.2021.707845 -
Journal of Clinical Immunology Jan 2023Sideroblastic anaemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD) syndrome is a novel rare autoinflammatory multisystem disorder. We... (Review)
Review
BACKGROUND AND PURPOSE
Sideroblastic anaemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD) syndrome is a novel rare autoinflammatory multisystem disorder. We performed a systematic review of the available clinical and therapeutics aspects of the SIFD syndrome.
METHODS
A systematic review according to PRISMA approach, including all articles published before the 30 of July 2021 in Pubmed and EMBASE database, was performed.
RESULTS
The search identified 29 publications describing 58 unique patients. To date, 41 unique mutations have been reported. Onset of disease is very early with a median age of 4 months (range 0-252 months). The most frequent manifestations are haematologic such as microcytic anaemia or sideroblastic anaemia (55/58), recurrent fever (52/58), neurologic abnormalities (48/58), immunologic abnormalities in particular a humoral immunodeficiency (48/58), gastrointestinal signs and symptoms (38/58), eye diseases as cataract and retinitis pigmentosa (27/58), failure to thrive (26/58), mucocutaneous involvement (29/58), sensorineural deafness (19/58) and others. To date, 19 patients (35.85%) died because of disease course (16) and complications of hematopoietic cell stems transplantation (3). The use of anti-TNFα and hematopoietic cell stems transplantation (HCST) is dramatically changing the natural history of this disease.
CONCLUSIONS
SIFD syndrome is a novel entity to consider in a child presenting with recurrent fever, anaemia, B-cell immunodeficiency and neurodevelopmental delay. To date, therapeutic guidelines are lacking but anti-TNFα treatment and/or HCST are attractive and might modify the clinical course of this syndrome.
Topics: Child; Humans; Anemia, Sideroblastic; Immunologic Deficiency Syndromes; Fever; Mutation; Developmental Disabilities
PubMed: 35984545
DOI: 10.1007/s10875-022-01343-0 -
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 -
Orphanet Journal of Rare Diseases Sep 2020Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13....
Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease characterised by visual disturbance, hearing impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, accelerated non-alcoholic fatty liver disease (NAFLD), renal dysfunction, respiratory disease, endocrine and urologic disorders. Clinical symptoms first appear in infancy with great variability in age of onset and severity. ALMS has an estimated incidence of 1 case per 1,000,000 live births and ethnically or geographically isolated populations have a higher-than-average frequency. The rarity and complexity of the syndrome and the lack of expertise can lead to delayed diagnosis, misdiagnosis and inadequate care. Multidisciplinary and multiprofessional teams of experts are essential for the management of patients with ALMS, as early diagnosis and intervention can slow the progression of multi-organ dysfunctions and improve patient quality of life.These guidelines are intended to define standard of care for patients suspected or diagnosed with ALMS of any age. All information contained in this document has originated from a systematic review of the literature and the experiences of the authors in their care of patients with ALMS. The Appraisal of Guidelines for Research & Evaluation (AGREE II) system was adopted for the development of the guidelines and for defining the related levels of evidence and strengths of recommendations.These guidelines are addressed to: a) specialist centres, other hospital-based medical teams and staffs involved with the care of ALMS patients, b) family physicians and other primary caregivers and c) patients and their families.
Topics: Alstrom Syndrome; Child; Consensus; Humans; Practice Guidelines as Topic; Quality of Life
PubMed: 32958032
DOI: 10.1186/s13023-020-01468-8 -
The Journal of International Advanced... Sep 2022Progression of contralateral hearing loss following otologic and neuro-otologic surgeries is a distressing and rare complication. The aim of this study was to... (Review)
Review
BACKGROUND
Progression of contralateral hearing loss following otologic and neuro-otologic surgeries is a distressing and rare complication. The aim of this study was to systematically review the suspected etiologies and audiological findings in adults who experienced contralateral hearing loss.
METHODS
PubMed/MEDLINE, PsycINFO, CINAHL, ISI Web of Science, Cochrane Library, EMBASE, and Scopus databases were searched for this scoping review. The current review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. No limits were placed on language or year of publication.
RESULTS
Of a total of 46 studies, 43 studies met the inclusion criteria reporting contralateral hearing loss. The included studies were classified into 3 different categories: contralateral hearing loss after skull base surgeries (n=21), contralateral hearing loss after middle ear surgeries (n=17), and contralateral hearing loss after traumatic lesions (n=5). The cerebrospinal fluid leakage and drill-generated noise were reported as the most reported etiology of contralateral hearing loss following skull base and middle ear surgeries, respectively. The onset of contralateral hearing loss varied from immediately to 18 months after surgery. The severity of contralateral hearing loss varied from a slight to a profound degree of hearing loss.
CONCLUSION
Our results highlighted that contralateral hearing loss should be considered following the skull base and middle ear surgeries. Furthermore, this rare complication should be noticed after traumatic lesions.
Topics: Adult; Audiology; Deafness; Hearing Loss; Humans; Language; Noise
PubMed: 36063099
DOI: 10.5152/iao.2022.21563 -
The Cochrane Database of Systematic... Apr 2020Obstructive sleep-disordered breathing (oSDB) is a condition encompassing breathing problems when asleep due to upper airway obstruction. In children, hypertrophy of the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Obstructive sleep-disordered breathing (oSDB) is a condition encompassing breathing problems when asleep due to upper airway obstruction. In children, hypertrophy of the tonsils and/or adenoids is thought to be the commonest cause. As such, (adeno)tonsillectomy has long been the treatment of choice. A rise in partial removal of the tonsils over the last decade is due to the hypothesis that tonsillotomy is associated with lower postoperative morbidity and fewer complications.
OBJECTIVES
To assess whether partial removal of the tonsils (intracapsular tonsillotomy) is as effective as total removal of the tonsils (extracapsular tonsillectomy) in relieving signs and symptoms of oSDB in children, and has lower postoperative morbidity and fewer complications.
SEARCH METHODS
We searched the Cochrane ENT Trials Register; Central Register of Controlled Trials (CENTRAL); MEDLINE; EMBASE; CINAHL; Web of Science; ClinicalTrials.gov; ICTRP and additional sources for published and unpublished trials. The search date was 22 July 2019.
SELECTION CRITERIA
Randomised controlled trials (RCTs) comparing the effectiveness of (adeno)tonsillectomy with (adeno)tonsillotomy in children aged 2 to 16 years with oSDB.
DATA COLLECTION AND ANALYSIS
We used standard Cochrane methods and assessed the certainty of the evidence for our pre-defined outcomes using GRADE. Our primary outcomes were disease-specific quality of life, peri-operative blood loss and the proportion of children requiring postoperative medical intervention (with or without hospitalisation). Secondary outcomes included postoperative pain, return to normal activity, recurrence of oSDB symptoms as a result of tonsil regrowth and reoperation rates.
MAIN RESULTS
We included 22 studies (1984 children), with predominantly unclear or high risk of bias. Three studies used polysomnography as part of their inclusion criteria. Follow-up duration ranged from six days to six years. Although 19 studies reported on some of our outcomes, we could only pool the results from a few due both to the variety of outcomes and the measurement instruments used, and an absence of combinable data. Disease-specific quality of life Four studies (540 children; 484 (90%) analysed) reported this outcome; data could not be pooled due to the different outcome measurement instruments used. It is very uncertain whether there is any difference in disease-specific quality of life between the two surgical procedures in the short (0 to 6 months; 3 studies, 410 children), medium (7 to 13 months; 2 studies, 117 children) and long term (13 to 24 months; 1 study, 67 children) (very low-certainty evidence). Peri-operative blood loss We are uncertain whether tonsillotomy reduces peri-operative blood loss by a clinically meaningful amount (mean difference (MD) 14.06 mL, 95% CI 1.91 to 26.21 mL; 8 studies, 610 children; very low-certainty evidence). In sensitivity analysis (restricted to three studies with low risk of bias) there was no evidence of a difference between the groups. Postoperative complications requiring medical intervention (with or without hospitalisation) The risk of postoperative complications in the first week after surgery was probably lower in children who underwent tonsillotomy (4.9% versus 2.6%, risk ratio (RR) 1.75, 95% CI 1.06 to 2.91; 16 studies, 1416 children; moderate-certainty evidence). Postoperative pain Eleven studies (1017 children) reported this outcome. Pain was measured using various scales and scored by either children, parents, clinicians or study personnel. When considering postoperative pain there was little or no difference between tonsillectomy and tonsillotomy at 24 hours (10-point scale) (MD 1.09, 95% CI 0.88 to 1.29; 4 studies, 368 children); at two to three days (MD 0.93, 95% CI -0.14 to 2.00; 3 studies, 301 children); or at four to seven days (MD 1.07, 95% CI -0.40 to 2.53; 4 studies, 370 children) (all very low-certainty evidence). In sensitivity analysis (restricted to studies with low risk of bias), we found no evidence of a difference in mean pain scores between groups. Return to normal activity Tonsillotomy probably results in a faster return to normal activity. Children who underwent tonsillotomy were able to return to normal activity four days earlier (MD 3.84 days, 95% CI 0.23 to 7.44; 3 studies, 248 children; moderate-certainty evidence). Recurrence of oSDB and reoperation rates We are uncertain whether there is a difference between the groups in the short (RR 0.26, 95% CI 0.03 to 2.22; 3 studies, 186 children), medium (RR 0.35, 95% CI 0.04 to 3.23; 4 studies, 206 children) or long term (RR 0.21 95% CI 0.01 to 4.13; 1 study, 65 children) (all very low-certainty evidence).
AUTHORS' CONCLUSIONS
For children with oSDB selected for tonsil surgery, tonsillotomy probably results in a faster return to normal activity (four days) and in a slight reduction in postoperative complications requiring medical intervention in the first week after surgery. This should be balanced against the clinical effectiveness of one operation over the other. However, this is not possible to determine in this review as data on the long-term effects of the two operations on oSDB symptoms, quality of life, oSDB recurrence and need for reoperation are limited and the evidence is of very low quality leading to a high degree of uncertainty about the results. More robust data from high-quality cohort studies, which may be more appropriate for detecting differences in less common events in the long term, are required to inform guidance on which tonsil surgery technique is best for children with oSDB requiring surgery.
Topics: Adolescent; Blood Loss, Surgical; Child; Child, Preschool; Humans; Pain, Postoperative; Palatine Tonsil; Postoperative Complications; Quality of Life; Randomized Controlled Trials as Topic; Recurrence; Reoperation; Severity of Illness Index; Sleep Apnea, Obstructive; Tonsillectomy
PubMed: 32347984
DOI: 10.1002/14651858.CD011365.pub2 -
Frontiers in Human Neuroscience 2023First, to discuss sex differences in auditory function between women and men, and whether cyclic fluctuations in levels of female sex hormones (i.e., estradiol and... (Review)
Review
AIMS
First, to discuss sex differences in auditory function between women and men, and whether cyclic fluctuations in levels of female sex hormones (i.e., estradiol and progesterone) affect auditory function in pre-menopausal and post-menopausal women. Second, to systematically review the literature concerning the discussed patterns in order to give an overview of the methodologies used in research. Last, to identify the gap in knowledge and to make recommendations for future work.
METHODS FOR THE SYSTEMATIC REVIEW
Population, Exposure, Control, Outcome and Study design (PECOS) criteria were used in developing the review questions. The review protocol follows the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and was pre-registered in the Prospective Register of Systematic Reviews (PROSPERO; CRD42020201480). Data Sources: EMBASE, PubMed, MEDLINE (Ovid), PsycINFO, ComDisDome, CINAHL, Web of Science, Cochrane Central Register of Controlled Trials (CENTRAL) via Cochrane Library, and scanning reference lists of relevant studies, and internet resources (i.e., Mendeley) were used. Only studies published between 1999 and 2022, in English, or in English translation, were included. The quality of evidence was assessed using the Newcastle-Ottawa Scale (NOS).
RESULTS
Sex differences: Women had more sensitive hearing (measured at the level of peripheral and central auditory system) than men. Cyclic fluctuations: Auditory function in women fluctuated during the menstrual cycle, while no such fluctuations in men over the same time period were reported. Hearing sensitivity improved in women during the late follicular phase, and decrease during the luteal phase, implying an effect of female sex hormones, although the specific effects of estradiol and progesterone fluctuations on the central auditory system remain unclear. Hearing sensitivity in women declined rapidly at the onset of menopause.
CONCLUSION
The review has shown the following. Consistent sex differences exist in auditory function across the auditory pathway with pre-menopausal women often showing better function than age-matched men. Moreover, pre-menopausal women show fluctuations in hearing function across the menstrual cycle with a better function during the peak of estradiol or when the ratio of estradiol to progesterone is high. Third, menopause marks the onset of hearing loss in women, characterized by a rapid decline in hearing sensitivity and a more pronounced loss than in age-matched men. Finally, the systematic review highlights the need for well-designed and -controlled studies to evaluate the influence of estradiol and progesterone on hearing by consistently including control groups (e.g., age-matched man), using objective tests to measure hormonal levels (e.g., in saliva or blood), and by testing participants at different points across the menstrual cycle.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42020201480, identifier CRD42020201480.
PubMed: 37151900
DOI: 10.3389/fnhum.2023.1077409