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Understanding obesity in children with 22q11.2 deletion syndrome

Walter Maria Sarli1,2, Matteo Cerutti2, Matteo Pontone2

  • 1Immunology Unit, Meyer Children's Hospital IRCCS, Florence, Italy.

Frontiers in Endocrinology
|August 18, 2025
PubMed

Insights

Obesity in 22q11.2 deletion syndrome (22q11.2DS) is linked to psychoactive medication, not the syndrome itself. Early intervention and careful drug use are key to managing weight gain in affected children.

Area of Science:

  • Genetics and Pediatrics
  • Metabolic Health and Endocrinology

Background:

  • 22q11.2 deletion syndrome (22q11.2DS) is a complex genetic disorder.
  • While short stature is documented, weight excess data in pediatric patients are limited.

Purpose of the Study:

  • Evaluate overweight and obesity prevalence in pediatric 22q11.2DS patients compared to the general Italian population.
  • Identify risk factors and critical periods for weight gain in 22q11.2DS.

Main Methods:

  • Retrospective, single-center study of 61 children with confirmed 22q11.2DS.
  • Anthropometric data compared to national surveillance databases.
  • Risk factors analyzed using univariate and multivariate analyses.

Main Results:

  • Overweight prevalence did not significantly differ from the general population.
  • Obesity showed bimodal peaks at ages 11 and 17 years.
  • Neuropsychiatric comorbidities and psychoactive medication use were associated with increased obesity risk; medication was an independent factor.

Conclusions:

  • Obesity in 22q11.2DS appears influenced by pharmacological treatment, not intrinsic to the syndrome.
  • Identifying vulnerable periods and modifiable risk factors is crucial.
  • A multidisciplinary approach with metabolic screening and cautious psychotropic medication use is recommended.
Abstract

Keywords:
22q11 deletion syndromeDiGeorgechildrenneuropsychiatric diseaseobesityoverweightpreventionthyroid

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