Evidence map›Paper›PMID 38855775›Full record

ArticleLaryngoscope investigative otolaryngology2024

High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation.

Monica Rodriguez-Valero, Adrian Pastolero, Shelby Redfield, Alma Medrano, Melania Abreu-Gonzalez, Jose Francisco Gallardo-Ollervides, Juan Carlos Cisneros Lesser, Maria Fernanda Hinojosa Valencia, Dennis Poe, Eliot Shearer

Abstract read
In one paragraph

Article in Laryngoscope investigative otolaryngology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Monica Rodriguez-ValeroDepartment of Neurosciences ABC Medical Center Mexico City Mexico.
Adrian PastoleroDepartment of Otolaryngology and Communication Enhancement Boston Children's Hospital Boston Massachusetts USA.
Shelby RedfieldDepartment of Otolaryngology and Communication Enhancement Boston Children's Hospital Boston Massachusetts USA.
Alma MedranoDepartment of Neurosciences ABC Medical Center Mexico City Mexico.
Melania Abreu-GonzalezDepartment of Neurosciences ABC Medical Center Mexico City Mexico.
Jose Francisco Gallardo-OllervidesDepartment of Neurosciences ABC Medical Center Mexico City Mexico.
Juan Carlos Cisneros LesserEscuchar Sin Fronteras Foundation Mexico City Mexico.
Maria Fernanda Hinojosa ValenciaEscuchar Sin Fronteras Foundation Mexico City Mexico.
Dennis PoeDepartment of Otolaryngology and Communication Enhancement Boston Children's Hospital Boston Massachusetts USA.
Eliot ShearerDepartment of Otolaryngology and Communication Enhancement Boston Children's Hospital Boston Massachusetts USA.ORCID https://orcid.org/0000-0002-5324-4805

Funding

Spiral Ganglion Health: from Genomics to Gene TherapyK08DC019716 · NIDCD · BOSTON CHILDREN'S HOSPITAL · PI SHEARER, AIDEN ELIOT · 2021 to 2025
$965k
NIDCD NIH HHS K08 DC019716
6 · The paper itself

Abstract

Objective: Studies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking. Recent data has shown that Hispanic and Latino children display lower genetic diagnostic rates despite similar prevalence rates of SNHL to their Asian and White counterparts, thus negatively affecting their clinical care. Our objective was to determine the genetic contribution to SNHL in a population of Mexican children undergoing evaluation for cochlear implantation. Methods: Pediatric patients from Mexico with severe to profound SNHL undergoing evaluation for cochlear implantation were recruited. Exome sequencing (ES) or hearing loss gene panel testing was performed. Variant pathogenicity was established in accordance to criteria established by the American College of Medical Genetics, and variants of interest were clinically confirmed via CLIA certified laboratory. Results: Genetic evaluation was completed for 30 Mexican children with severe to profound SNHL. A genetic cause was identified for 47% (14) of probands, and 7% (2) probands had an inconclusive result. Of the diagnoses, 10 (71%) were syndromic or likely syndromic, and 4 (29%) were nonsyndromic. Eight probands (80% of all syndromic diagnoses) were diagnosed with a syndromic form of hearing loss that mimics a nonsyndromic clinical presentation at a young age and so could not be suspected based on clinical evaluation alone without genetic testing. Conclusion: This is the largest study to date to use comprehensive genomic testing for the evaluation of Mexican children with severe to profound SNHL. A significant proportion of children in this cohort were diagnosed with syndromic hearing loss. Future study in a larger cohort of Mexican children with varying degrees of hearing loss is required to improve the efficacy of genetic testing and timely medical intervention within these ethnically diverse populations. Level of evidence: Level 4 (cohort study).

Indexed as

geneticsgenomicshearing lossMexico

Identifiers

PMID38855775
PMCPMC11160157

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.