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Analysis of institutional authors

Martín-Sanz, María BelénCorresponding Author

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February 1, 2025
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Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic

Publicated to: Frontiers in Neuroscience. 18 1476977- - 2025-01-08 18(), DOI: 10.3389/fnins.2024.1476977

Authors:

Martín-Sanz, MB; Lucas-Muñoz, D; Colomé-Hidalgo, M
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Affiliations

Hosp Pediat Dr Hugo Mendoza, Santo Domingo, Dominican Rep - Author
King Juan Carlos Univ, Res Grp Humanities & Qualitat Res Hlth Sci, Alcorcon, Spain - Author
Univ Autonoma Santo Domingo, Santo Domingo, Dominican Rep - Author
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Abstract

Spinal muscular atrophy (SMA) is a progressive genetic neuromuscular condition affecting spinal motor neurons. The underlying cause of SMA is deletions or mutations in the SMN gene. It is classified into five variants based on age and clinical manifestations of the patient. In this report, we present the case discovery of a four-month-old male patient with SMA type 1, presenting with generalized hypotonia and regression of acquired neurodevelopmental milestones. Our study aims to illustrate, through a case report, the clinical analysis, therapeutic interventions, and progression until the patient's demise. This aims to share the challenges in managing such patients and the strategies employed in their care plan. By documenting this case, our goal is to contribute to the understanding of SMA type 1 and emphasize the ongoing need for learning effective care strategies.
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Keywords

AcetylcysteineAdultAfrican caribbeanAntiretroviral therapyArticleBlood pressureCardiopulmonary insufficiencyCase reportCell motilityCesarean sectionChildrens hospital of philadelphia infant test of neuromuscular disorderClinical articleCommunity acquired pneumoniaComputer assisted emission tomographyCost benefit analysisCoughingDiagnosiDifferential diagnosisDiscoveryDobutamineDominican republicFeverGeneGene mutationGenetic analysisGenetic screeningGenotypeHammersmith infant neurological examination scaleHeart rateHeart rhythmHepatomegalyHomozygous deletionHumanInsuranceIntensive care unitIntervention studyLimb weaknessLung hemodynamicsLung ventilationMaleManagementMethylprednisoloneMotoneuronMotor neuron diseaseMotor neuron disease, progressive muscular atrophiesMouth infectionMultiplex ligation dependent probe amplificationMuscle hypotoniaNormodynamic thoraxNusinersenOrganomegalyOxygen saturationPhysical examinationPneumoniaPregnancyProgressive muscular atrophieRegression analysisRespiratory distressRhinorrheaRna splicingSalbutamolSmn1Spinal muscular atrophy (sma)SurvivalSurvival motor neuron protein 1Type iVaccinationWerdnig hoffmann disease

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Frontiers in Neuroscience due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2025, it was in position 130/314, thus managing to position itself as a Q2 (Segundo Cuartil), in the category Neurosciences. Notably, the journal is positioned en el Cuartil Q2 para la agencia Scopus (SJR) en la categoría Neuroscience (Miscellaneous).

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Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2026-04-02:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 3.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 3 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 1.
  • The number of mentions on the social network X (formerly Twitter): 1 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
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Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Dominica; Dominican Republic.

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (Martín Sanz, María Belén) .

the author responsible for correspondence tasks has been Martín Sanz, María Belén.

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