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Ophthalmic Research 2024Although the p.C759F (c.2276G>T, p.Cys759Phe) variant in the USH2A gene has been identified in association with retinal degeneration by several authors, its... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Although the p.C759F (c.2276G>T, p.Cys759Phe) variant in the USH2A gene has been identified in association with retinal degeneration by several authors, its pathogenicity has been questioned once by the publication of two unaffected homozygotes from a single family.
OBJECTIVES
The objective of the study was to ascertain the role of p.C759F in hereditary retinal disease.
METHODS
We examined 87 research articles reporting on patients carrying this variant and then used this information as primary data for a series of meta-analytical tests.
RESULTS
Independent statistical analyses showed that p.C759F (i) is highly enriched in patients with respect to healthy individuals, (ii) represents a clear-cut recessive allele causing disease when it is in trans with other mutations, (iii) is pathogenic in homozygotes.
CONCLUSIONS
Our results confirm that p.C759F is a bona fide mutation, leading to retinal blindness according to a recessive pattern of inheritance.
Topics: Humans; Retinitis Pigmentosa; Usher Syndromes; Mutation; Genotype; Extracellular Matrix Proteins; DNA Mutational Analysis
PubMed: 38016437
DOI: 10.1159/000535545 -
PloS One 2023Over 90% of deaf children are born to hearing parents who have limited knowledge about deafness and require comprehensive support and information to support and... (Review)
Review
BACKGROUND
Over 90% of deaf children are born to hearing parents who have limited knowledge about deafness and require comprehensive support and information to support and communicate with their deaf child. However, little is known about the systems that support hearing families with deaf children. We performed a scoping review to provide an overview of current literature on the topic.
METHODS
The protocol of the scoping review was prepared using the PRISMA statement guidelines for scoping reviews. Relevant search terms were used to identify eligible studies following discussion with the study's steering group. Databases searched were CINAHL, Medline, ProQuest Central and ASSIA, as well as grey literature from relevant journals and online sources. Included were studies published from 2000 to 2021 and available in English.
RESULTS
A search of databases identified 1274 articles. After excluding duplicates, screening titles and abstracts and full texts, 65 papers matched the identified inclusion criteria. Results included 1 RCT, 7 comparative studies, 6 literature reviews, 4 PhD theses, and 47 further empirical studies.
CONCLUSION
There is limited quality evidence on what supports hearing parents with deaf children. It is evident that further studies are needed to ensure comprehensive support is accessible and effective for hearing parents of deaf children.
Topics: Humans; Child; Hearing; Parents; Empirical Research
PubMed: 38011100
DOI: 10.1371/journal.pone.0288771 -
BMJ (Clinical Research Ed.) Nov 2023To summarize the breadth and quality of evidence supporting commonly recommended early childhood autism interventions and their estimated effects on developmental... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To summarize the breadth and quality of evidence supporting commonly recommended early childhood autism interventions and their estimated effects on developmental outcomes.
DESIGN
Updated systematic review and meta-analysis (autism intervention meta-analysis; Project AIM).
DATA SOURCES
A search was conducted in November 2021 (updating a search done in November 2017) of the following databases and registers: Academic Search Complete, CINAHL Plus with full text, Education Source, Educational Administration Abstracts, ERIC, Medline, ProQuest Dissertations and Theses, PsycINFO, Psychology and Behavioral Sciences Collection, and SocINDEX with full text, , and ClinicalTrials.gov.
ELIGIBILITY CRITERIA FOR SELECTING STUDIES
Any controlled group study testing the effects of any non-pharmacological intervention on any outcome in young autistic children younger than 8 years.
REVIEW METHODS
Newly identified studies were integrated into the previous dataset and were coded for participant, intervention, and outcome characteristics. Interventions were categorized by type of approach (such as behavioral, developmental, naturalistic developmental behavioral intervention, and technology based), and outcomes were categorized by domain (such as social communication, adaptive behavior, play, and language). Risks of bias were evaluated following guidance from Cochrane. Effects were estimated for all intervention and outcome types with sufficient contributing data, stratified by risk of bias, using robust variance estimation to account for intercorrelation of effects within studies and subgroups.
RESULTS
The search yielded 289 reports of 252 studies, representing 13 304 participants and effects for 3291 outcomes. When contributing effects were restricted to those from randomized controlled trials, significant summary effects were estimated for behavioral interventions on social emotional or challenging behavior outcomes (Hedges' g=0.58, 95% confidence interval 0.11 to 1.06; P=0.02), developmental interventions on social communication (0.28, 0.12 to 0.44; P=0.003); naturalistic developmental behavioral interventions on adaptive behavior (0.23, 0.02 to 0.43; P=0.03), language (0.16, 0.01 to 0.31; P=0.04), play (0.19, 0.02 to 0.36; P=0.03), social communication (0.35, 0.23 to 0.47; P<0.001), and measures of diagnostic characteristics of autism (0.38, 0.17 to 0.59; P=0.002); and technology based interventions on social communication (0.33, 0.02 to 0.64; P=0.04) and social emotional or challenging behavior outcomes (0.57, 0.04 to 1.09; P=0.04). When effects were further restricted to exclude caregiver or teacher report outcomes, significant effects were estimated only for developmental interventions on social communication (0.31, 0.13 to 0.49; P=0.003) and naturalistic developmental behavioral interventions on social communication (0.36, 0.23 to 0.49; P<0.001) and measures of diagnostic characteristics of autism (0.44, 0.20 to 0.68; P=0.002). When effects were then restricted to exclude those at high risk of detection bias, only one significant summary effect was estimated-naturalistic developmental behavioral interventions on measures of diagnostic characteristics of autism (0.30, 0.03 to 0.57; P=0.03). Adverse events were poorly monitored, but possibly common.
CONCLUSION
The available evidence on interventions to support young autistic children has approximately doubled in four years. Some evidence from randomized controlled trials shows that behavioral interventions improve caregiver perception of challenging behavior and child social emotional functioning, and that technology based interventions support proximal improvements in specific social communication and social emotional skills. Evidence also shows that developmental interventions improve social communication in interactions with caregivers, and naturalistic developmental behavioral interventions improve core challenges associated with autism, particularly difficulties with social communication. However, potential benefits of these interventions cannot be weighed against the potential for adverse effects owing to inadequate monitoring and reporting.
Topics: Child; Humans; Child, Preschool; Autistic Disorder; Behavior Therapy; Early Intervention, Educational; Social Skills; Adaptation, Psychological
PubMed: 37963634
DOI: 10.1136/bmj-2023-076733 -
PloS One 2023Hearing loss has been pointed out as a potential predictor for cognitive decline. This study conducted a systematic review to evaluate the scientific evidence on the... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Hearing loss has been pointed out as a potential predictor for cognitive decline. This study conducted a systematic review to evaluate the scientific evidence on the association between hearing loss in the elderly and cognitive decline, as well as whether race/color influences this relationship.
METHOD
The search for studies was performed in the following electronic databases: MedLine/PubMed Web of Science, Scopus and Virtual Health Library, and MedRkiv up to August 2022. Studies with epidemiological designs that assess the association between hearing loss and cognitive decline in the elderly were eligible for inclusion. Three independent reviewers performed the selection, data extraction and evaluation of the quality of the studies using the Newcastle-Ottawa Scale. A meta-analysis using a random effects model estimated the global association measurements (Beta coefficient: β) and their 95% confidence intervals (95%CI), and the Higgins and Thompson indicator (I2) was also estimated to assess statistical heterogeneity among the studies.
RESULTS
5,207 records were identified in the database surveys, of which only 18 were eligible studies, totaling 19,551 individuals. Hearing loss was associated with cognitive decline in the elderly, with statistical significance: β = -0.13; 95%CI = -0.23 to -0.04; I2 = 98.70%). For black individuals, the magnitude of the association increased: β = -0.64; 95%CI = -3.36 to 2.07; I2 = 95.65%, but it was not statistically significant.
CONCLUSION
The findings of this systematic review showed the existence of a significant relationship between hearing loss and cognitive decline in the elderly, as well as signaling that among black individuals the magnitude of the association can be increased.
Topics: Humans; Aged; Cognitive Dysfunction; Hearing Loss; Deafness; Surveys and Questionnaires; Databases, Factual
PubMed: 37943811
DOI: 10.1371/journal.pone.0288099 -
European Archives of... Mar 2024This study is a systematic review of the literature which seeks to evaluate auditory and quality of life (QOL) outcomes of cochlear implantation in patients with Usher... (Review)
Review
PURPOSE
This study is a systematic review of the literature which seeks to evaluate auditory and quality of life (QOL) outcomes of cochlear implantation in patients with Usher syndrome.
METHODS
Systematic review of studies indexed in Medline via PubMed, Ovid EMBASE, Web of Science, CENTRAL and clinicaltrials.gov was performed up to March 9th 2022, conducted in accordance with the PRISMA statement. Patient demographics, comorbidity, details of cochlear implantation, auditory, and QOL outcomes were extracted and summarized.
RESULTS
33 studies reported over 217 cochlear implants in 187 patients with Usher syndrome, comprising subtypes 1 (56 patients), 2 (9 patients), 3 (23 patients), and not specified (99 patients). Auditory outcomes included improved sound detection, speech perception, and speech intelligibility. QOL outcomes were reported for 75 patients, with benefit reported in the majority.
CONCLUSIONS
Many patients with Usher syndrome develop improved auditory outcomes after cochlear implantation with early implantation being an important factor.
Topics: Humans; Cochlear Implantation; Usher Syndromes; Quality of Life; Treatment Outcome; Cochlear Implants; Speech Perception
PubMed: 37930386
DOI: 10.1007/s00405-023-08304-2 -
Laryngoscope Investigative... Oct 2023To systematically review the prevalence and risk factors of inadvertent facial nerve stimulation (FNS) after cochlear implant (CI) surgery. And to report the different... (Review)
Review
OBJECTIVES
To systematically review the prevalence and risk factors of inadvertent facial nerve stimulation (FNS) after cochlear implant (CI) surgery. And to report the different management strategies used for reducing and resolving FNS.
DATA SOURCE
Web of Science, Scopus, PubMed, Cochrane Library, and Virtual Health Library (VHL) of the World Health Organization (WHO).
REVIEW METHODS
A systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) on studies that reported FNS as a complication after CI. A comprehensive electronic search strategy was used to identify the relevant articles. We extracted the data on the prevalence of FNS after CI activation, the reported grades, and the management strategies. The number of associated electrodes; cause of deafness; co-anomalies; and duration of hearing loss and their relationships with FNS were also studied.
RESULTS
Twenty-one relevant articles were included in this review. The prevalence of FNS among the CI populations was 5.29% (175/3306 patients). Among those whose ages were reported, 58.3% (95/163) were adults, and 41.7% (68/163) were pediatrics. Modifying the different fitting parameters was the most used strategy, as it successfully resolved FNS in 85.5% of the patients (142/166). The second commonly used management strategy was surgical intervention (reimplantation or explantation), which was reported in seven studies for 23 patients.
CONCLUSION
FNS after CI activation could be controlled and resolved with many advances that range from readjusting the fitting parameters to surgical intervention. However, further studies are required to validate the efficacy of each management strategy and its impact on patients' performance. Our findings demonstrate that CI recipients with FNS could still benefit from the CI devices and their FNS could be controlled.
PubMed: 37899846
DOI: 10.1002/lio2.1121 -
International Journal of Molecular... Oct 2023With more than 466 million people affected, hearing loss represents the most common sensory pathology worldwide. Despite its widespread occurrence, much remains to be... (Review)
Review
With more than 466 million people affected, hearing loss represents the most common sensory pathology worldwide. Despite its widespread occurrence, much remains to be explored, particularly concerning the intricate pathogenic mechanisms underlying its diverse phenotypes. In this context, metabolomics emerges as a promising approach. Indeed, lying downstream from molecular biology's central dogma, the metabolome reflects both genetic traits and environmental influences. Furthermore, its dynamic nature facilitates well-defined changes during disease states, making metabolomic analysis a unique lens into the mechanisms underpinning various hearing impairment forms. Hence, these investigations may pave the way for improved diagnostic strategies, personalized interventions and targeted treatments, ultimately enhancing the clinical management of affected individuals. In this comprehensive review, we discuss findings from 20 original articles, including human and animal studies. Existing literature highlights specific metabolic changes associated with hearing loss and ototoxicity of certain compounds. Nevertheless, numerous critical issues have emerged from the study of the current state of the art, with the lack of standardization of methods, significant heterogeneity in the studies and often small sample sizes being the main limiting factors for the reliability of these findings. Therefore, these results should serve as a stepping stone for future research aimed at addressing the aforementioned challenges.
Topics: Animals; Humans; Reproducibility of Results; Hearing Loss; Deafness; Metabolomics; Metabolome
PubMed: 37894867
DOI: 10.3390/ijms242015188 -
The Journal of International Advanced... Oct 2023Recent breakthroughs in our understanding of sensorineural hearing loss etiology have encouraged the identification of novel hearing therapeutics, paving the way for...
Recent breakthroughs in our understanding of sensorineural hearing loss etiology have encouraged the identification of novel hearing therapeutics, paving the way for precision hearing medicine. Critical to this field is the curation of health resources on hearing data. A systematic review of the literature was conducted to map existing (inter)national and regional datasets that include hearing data to inform the development of future hearing repositories. Systematic literature review was performed adhering to Preferred Reporting Items for Systematic Review and MetaAnalysis recommendations. Databases, including those from gray literature, were searched to identify publications reporting on phenotypic and/ or genotypic hearing data in May 2019. The databases reviewed were Medline, PubMed, Embase databases, and Google Scholar. Publications on local datasets were excluded. All hearing datasets identified in the screening process were noted. For each dataset, geography, context, objective, period of time run, numbers and demographics of participants, genomic data, hearing measures and instruments used were extracted and cataloged. One hundred and eighty-eight datasets were identified, containing hearing data on populations ranging from 100 to 1.39 million individuals, and all extracted data have been cataloged. This searchable resource has been made accessible online. This unique catalog provides an overview of existing datasets that contain valuable information on hearing. This can be used to inform the development of national and international patient data repositories for hearing loss and guide strategic collaboration between key stakeholder groups, pivotal to the delivery and development of sensorineural hearing loss precision diagnostics and treatments.
Topics: Humans; Deafness; Hearing; Hearing Loss; Hearing Loss, Sensorineural; Precision Medicine
PubMed: 37789630
DOI: 10.5152/iao.2023.22690 -
Molecular Genetics and Metabolism... Sep 2023Phosphoribosylpyrophosphate synthetase 1 (PRS-I) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the are rare and PRS-I deficiency can manifest...
Phosphoribosylpyrophosphate synthetase 1 (PRS-I) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked non-syndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5) and Arts syndrome. We present a Slovenian patient with PRS-I enzyme deficiency due to a novel pathogenic variant - c.424G > A (p.Val142Ile) in the gene, who presented with gross motor impairment, severe sensorineural deafness, balance issues, ataxia, and frequent respiratory infections. In addition, we report the findings of a systemic literature review of all described male cases of Arts syndrome and CMTX5 as well as intermediate phenotypes. As already proposed by other authors, our results confirm PRS-I deficiency should be viewed as a phenotypic continuum rather than three separate syndromes because there are multiple reports of patients with an intermediary clinical presentation.
PubMed: 37670898
DOI: 10.1016/j.ymgmr.2023.100986 -
Frontiers in Neurology 2023The recognition of Auditory Processing Disorder (APD) as a distinct clinical condition that impacts hearing capacity and mental health has gained attention. Although... (Review)
Review
The recognition of Auditory Processing Disorder (APD) as a distinct clinical condition that impacts hearing capacity and mental health has gained attention. Although pure tone audiometry is the gold standard for assessing hearing, it inadequately reflects everyday hearing abilities, especially in challenging acoustic environments. Deficits in speech perception in noise, a key aspect of APD, have been linked to an increased risk of dementia. The World Health Organization emphasizes the need for evaluating central auditory function in cases of mild hearing loss and normal audiometry results. Specific questionnaires play a crucial role in documenting and quantifying the difficulties faced by individuals with APD. Validated questionnaires such as the Children's Auditory Processing Performance Scale, the Fisher's Auditory Problems Checklist, and the Auditory Processing Domains Questionnaire are available for children, while questionnaires for adults include items related to auditory functions associated with APD. This systematic review and meta-analysis identified six questionnaires used for screening and evaluating APD with a total of 783 participants across 12 studies. The questionnaires exhibited differences in domains evaluated, scoring methods, and evaluation of listening in quiet and noise. Meta-analysis results demonstrated that individuals with APD consistently exhibited worse scores compared to healthy controls across all questionnaires. Additionally, comparisons with clinical control groups showed varying results. The study highlights (i) the importance of standardized questionnaires in identifying and assessing APD, aiding in its diagnosis and management, and (ii) the need to use sub-scores as well as overall scores of questionnaires to elaborate on specific hearing and listening situations. There is a need to develop more APD specific questionnaires for the adult population as well as for more focused research on APD diagnosed individuals to further establish the validity and reliability of these questionnaires.
PubMed: 37621857
DOI: 10.3389/fneur.2023.1243170