ORIGINAL RESEARCH article
Front. Endocrinol.
Sec. Obesity
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1628796
This article is part of the Research TopicEarly Prevention of Childhood Obesity: Identifying Risks and Implementing Effective InterventionsView all articles
Understanding Obesity in Children with 22q11.2 Deletion Syndrome
Provisionally accepted
Matteo Cerutti1*
Walter Maria Sarli1
Matteo Pontone1
Valentina Guarnieri1Sara Soldovieri1
Massimo Giotta2Silvia Ricci1,3Chiara Azzari1,3
Stefano Stagi1,4- 1Department of Health Sciences, University of Florence, Florence, Italy
- 2PhD School in Public Health, Clinical Medicine, and Oncology, Department of Precision and Regenerative Medicine and Ionian Area, School of Medicine, University of Bari Aldo Moro, Bari, Italy
- 3Immunology Unit, Meyer Children’s Hospital IRCCS, Florence, Italy, Florence, Italy
- 4Paediatric Diabetology and Endocrinology Unit, Meyer Children's Hospital IRCCS, Florence, Italy, Florence, Italy
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Background: 22q11.2 deletion syndrome (22q11.2DS) is a complex and heterogeneous genetic disorder. While short stature is well-documented, data on weight excess in pediatric patients remain sparse and conflicting. Objective: To evaluate the prevalence of overweight and obesity in children and adolescents with 22q11.2DS when compared to the general Italian pediatric population and identify risk factors and periods of critical weight gain. Methods: In this single-center, retrospective study, 61 children with molecularly confirmed 22q11.2DS were followed up for 441 patient-years. Anthropometric data were evaluated and compared to national surveillance databases ("OKKio alla Salute" and "HBSC"). Risk factors for overweight and obesity were identified by univariate and multivariate analyses. Results: While overweight prevalence in 22q11.2DS patients did not differ significantly from that in the general population, obesity had a bimodal age distribution with peaks at 11 and 17 years. Both neuropsychiatric comorbidities and the use of psychoactive medication were significantly associated with an increased risk of overweight and obesity. In multivariate analysis, the use of psychoactive medication was the only independent risk factor. Conclusions: Obesity in 22q11.2DS may not be syndrome-intrinsic but is heavily influenced by pharmacological treatment. Identification of vulnerable periods and modifiable risk factors is crucial. A preventive, multidisciplinary approach with metabolic screening and cautious use of psychotropic medication is warranted to avoid obesity risk in this population
Keywords: 22q11 Deletion Syndrome, DiGeorge, Obesity, Overweight, thyroid, neuropsychiatric disease, prevention, Children
Received: 14 May 2025; Accepted: 10 Jul 2025.
Copyright: © 2025 Cerutti, Sarli, Pontone, Guarnieri, Soldovieri, Giotta, Ricci, Azzari and Stagi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Matteo Cerutti, Department of Health Sciences, University of Florence, Florence, Italy
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