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Analysis of institutional authors

Gutierrez Junquera, CarolinaAuthorPascual Pascual, Samuel IgnacioAuthorRuiz-Antoran, BelenAuthor

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December 3, 2025
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Article

Efficacy and tolerability of a low-glycemic-index ketogenic diet in Angelman syndrome: findings from the DIANE study

Publicated to: Orphanet Journal Of Rare Diseases. 20 (1): 525- - 2025-10-21 20(1), DOI: 10.1186/s13023-025-04037-z

Authors:

Escalera, GI; Calleja, RC; Ruiz, ML; Herguedas, JL; Junquera, CG; Pascual, MLC; Caballero-Bermejo, AF; Roman-Riechmann, E; Pascual, SIP; Ruiz-Antorán, B
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Affiliations

Hosp Univ Puerta Hierro Majadahonda, Dept Pediat, Neuropediat Unit, Madrid, Spain - Author
Hosp Univ Puerta Hierro Majadahonda, Dept Pediat, Pediat Gastroenterol Unit, Madrid, Spain - Author
Hosp Univ Puerta Hierro, Dept Clin Pharmacol, C Joaquin Rodrigo 1, Majadahonda 28222, Madrid, Spain - Author
Inst Invest Sanit Puerta Hierro Segovia Arana, Madrid, Spain - Author
Univ Alcala, Fac Med & Ciencias Salud, Madrid, Spain - Author
Univ Alfonso X Sabio, Fac Ciencias Salud, Madrid, Spain - Author
Univ Autonoma Madrid, Escuela Doctorado, Madrid, Spain - Author
Univ Autonoma Madrid, Fac Med, Madrid, Spain - Author
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Abstract

Aim This study evaluates the efficacy of a low-glycemic-index diet (LGID) in improving neurodevelopmental and sleep outcomes in pediatric Angelman Syndrome (AS) patients. Method A prospective, evaluator-blinded cohort study was conducted with 20 pediatric patients (3-16 years) diagnosed with AS. Patients were assigned to an LGID or habitual diet group and followed for 24 weeks. The primary outcome was neurodevelopmental progress measured using the Bayley Scales of Infant and Toddler Development-III. Secondary outcomes included adaptive behavior (Vineland-II), gross motor function (GMFM-88), sleep quality (actigraphy and questionnaires), seizure frequency and a 30-min awake video-EEG. Results At 24 weeks, the LGID group showed a trend toward improvement in cognitive and language domains, although differences were not statistically significant (p > 0.05). Qualitative EEG improvement was observed in 44% of LGID patients versus 25% in the control group. Sleep parameters showed minor changes, with no significant differences between groups. Interpretation: While the LGID was well-tolerated and showed trends toward neurocognitive and seizure improvements, results were not statistically significant. Further studies with larger sample sizes are needed.
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Keywords

AdolescentAdolescentsAngelman syndromeChildChild, preschoolChildrenDietDiet therapyDiet, ketogenicElectroencephalographyEpilepsyFemaleGlycemic indexHumansKetogenicMaleProspective studiesSeizuresSleepTreatment outcome

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Orphanet Journal of Rare Diseases due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2025, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Pharmacology (Medical).

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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 2026-04-06:

  • 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: 16.
  • 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: 16 (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: 3.
  • The number of mentions on the social network X (formerly Twitter): 4 (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

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 (Iglesias Escalera, Gema) and Last Author (RUIZ ANTORAN, BELEN).

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Awards linked to the item

We would like to express our sincere gratitude to all the professionals involved in the care of these patients for their invaluable contributions to our study. We also extend our thanks to Nutricia for their initial support in conducting this study and to Philips for providing the actigraphs (Actiwatch) to support and enhance the evaluation of sleep in this study. Additionally, we would like to acknowledge the Department of Neuropsychology at the Universidad Complutense de Madrid.
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