Evidence map›Paper›PMID 38131811›Full record

ArticleAudiology research2023

Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders.

Paola Tesolin, Aurora Santin, Anna Morgan, Stefania Lenarduzzi, Elisa Rubinato, Giorgia Girotto, Beatrice Spedicati

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Audiology research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-weighted citation impact, top 34% of its field
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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Article
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

7 authors at 2 institutions in 1 country.

Paola TesolinDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.ORCID 0000-0002-5238-6422
Aurora SantinDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.ORCID 0000-0002-8940-5463
Anna MorganInstitute for Maternal and Child Health-I.R.C.C.S. "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0001-6290-445X
Stefania LenarduzziInstitute for Maternal and Child Health-I.R.C.C.S. "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0001-8450-1694
Elisa RubinatoInstitute for Maternal and Child Health-I.R.C.C.S. "Burlo Garofolo", 34137 Trieste, Italy.
Giorgia GirottoDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.ORCID 0000-0003-4507-6589
Beatrice SpedicatiDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.ORCID 0000-0002-7432-4708
University of Trieste · ITIRCCS Materno Infantile Burlo Garofolo · IT

Funding

Ministero della Salute Ricerca Corrente L3_14\22
6 · The paper itself

Abstract

Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss (HL), retinopathy, and vestibular areflexia, with variable severity. Although a high prevalence of behavioural and mental disorders in USH patients has been reported, few studies on these psychiatric and psychological issues have been conducted. This work describes the case of a 16-year-old boy affected by congenital bilateral sensorineural HL, presenting a suddenly altered behaviour concomitant with a decrease in visual acuity. To establish a molecular diagnosis, Whole-Exome Sequencing analysis was performed, detecting a pathogenetic homozygous variant (c. 5985C>A, p.(Tyr1995*)) within the

Indexed as

CDH23psychiatric symptomsUsher syndrome type I

Identifiers

PMID38131811
PMCPMC10740809
OpenAlexW4389542075

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.