Evidence map›Paper›PMID 39627468›Full record

ArticleEuropean journal of pediatrics2024

From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.

Elisabetta Sforza, Federico Calà, Claudia Manfredi, Antonio Lanatà, Andrea Guala, Cesare Danesino, Angelina Cistaro, Matelda Mazzocca, Lucia D'Alatri, Roberta Onesimo and 2 more

Abstract read
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In one paragraph

Article in European journal of pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Observational
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

12 authors.

Elisabetta SforzaUniversità Cattolica del Sacro Cuore, Rome, 00168, Italy.ORCID http://orcid.org/0000-0002-5646-7406
Federico CalàDepartment of Information Engineering, University of Florence, Florence, 50139, Italy.ORCID http://orcid.org/0009-0001-2214-8597
Claudia ManfrediDepartment of Information Engineering, University of Florence, Florence, 50139, Italy.ORCID http://orcid.org/0000-0001-6364-9753
Antonio LanatàDepartment of Information Engineering, University of Florence, Florence, 50139, Italy.ORCID http://orcid.org/0000-0002-6540-5952
Andrea GualaA.B.C. Associazione Bambini Cri du chat Scientific Committee, Firenze, Italy.ORCID http://orcid.org/0000-0002-5006-8164
Cesare DanesinoA.B.C. Associazione Bambini Cri du chat Scientific Committee, Firenze, Italy.ORCID http://orcid.org/0000-0002-8400-5671
Angelina CistaroA.B.C. Associazione Bambini Cri du chat Scientific Committee, Firenze, Italy.ORCID http://orcid.org/0000-0001-8024-8425
Matelda MazzoccaA.B.C. Associazione Bambini Cri du chat Scientific Committee, Firenze, Italy.
Lucia D'AlatriUnit for Ear, Nose and Throat Medicine, Department of Neuroscience, Sensory Organs and Chest, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy.ORCID http://orcid.org/0000-0003-3104-958X
Roberta OnesimoCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy.ORCID http://orcid.org/0000-0003-3128-6657
Lorenzo FrassinetiDepartment of Information Engineering, University of Florence, Florence, 50139, Italy.ORCID http://orcid.org/0000-0002-9546-4494
Giuseppe ZampinoUniversità Cattolica del Sacro Cuore, Rome, 00168, Italy. giuseppe.zampino@unicatt.it.ORCID http://orcid.org/0000-0002-2661-4831

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic syndromes have been studied by extensive research allowing a better definition of their clinical manifestations, natural history, and etiopathogenetic mechanisms. Nevertheless, some relevant, but still unexplored aspects of these multisystemic conditions need to be clarified. One of these aspects is the characterization of the vocal production, especially in some genetic syndromes in which the distinctive voice is the hallmark of the syndrome (e.g., Cri du chat syndrome, CdCS). The aim of this study is to provide a detailed description of phonotype of patients affected by CdCS. We prospectively recorded and analysed acoustical features of three corner vowels [a], [i], and [u] and number listing from 1 to 10 of 29 patients with molecularly confirmed CdCS (age range 4-21 years; mean 11 ± 6; median 10 years). For perceptual analysis, the GIRBAS scale was completed. The acoustical analysis was performed through BioVoice software. When stratified by age and gender, in the older men subgroup the grade, roughness, and asthenia mean values are the highest for each vowel, when compared with values of the same parameters obtained in the other subgroups. Statistical analysis highlighted 26 significant differences: 38% (10) concern the sustained phonation of /a/, 27% (7) are related to /i/ whereas 19% (5) to /u/. Ratio1, Ratio2, VSA, and FCR were also significant. Conclusion: The voice production not only conveys linguistic and paralinguistic information but also can give information regarding the speaker's biological and clinical characteristics.

Indexed as

Cri-du-Chat SyndromePhenotypeVoice QualityAdolescentChildChild, PreschoolFemaleHumansMalePhonationProspective StudiesSpeech AcousticsSpeech Production MeasurementVoice DisordersYoung Adult5p-SyndromeAcoustical analysisArtificial intelligenceCri du chat syndromeDysphonia

Identifiers

PMID39627468

What OpenQuestion holds

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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.