Language

English

Publication Date

12-10-2025

Journal

American Journal of Medical Genetics Part A

DOI

10.1002/ajmga.70023

PMID

41373180

Abstract

To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases. Eligible studies, identified by independent reviewers, included peer-reviewed research on psychiatric comorbidities or interventions in children with OI. Data extraction included study design, population characteristics, mental health outcomes, and treatment effectiveness, with all studies assessed for quality and bias. Findings were synthesized to evaluate the prevalence of psychiatric comorbidities and intervention effectiveness. Five articles met inclusion criteria after screening and full-text review. Although the included studies varied in design and outcome measures, they reported elevated signs and symptoms of anxiety and depression in children with OI, particularly those with severe phenotypes. Qualitative findings highlighted subclinical psychosocial burdens, including emotional distress and social isolation. No studies evaluated psychotherapeutic or psychopharmacological interventions. This systematic review provides the first comprehensive analysis of psychiatric comorbidities in children with OI, revealing a critical lack of research on psychiatric comorbidities in children with OI. These gaps highlight an urgent need for targeted mental health studies to inform screening and integrated care for this population.

Keywords

anxiety, brittle bone disease, chronic pediatric illness, depression, emotional well‐being, psychosocial impact

Published Open-Access

yes

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