Psychiatric Insights into Chromosomal Disorders: Behavioral Phenotypes in Children with 22q11.2 Deletion Syndrome" comprehensive narrative review
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N\AAbstract
Background: 22q11.2 deletion syndrome (22q11.2DS) is a common chromosomal microdeletion disorder associated with elevated risk for cognitive impairments and psychiatric disorders across development.
Objective: To provide a comprehensive narrative review of behavioral and psychiatric phenotypes in children with 22q11.2DS, summarizing prevalence, developmental trajectory, comorbidities, assessment methods, heterogeneity, and clinical implications.
Methods: Literature was searched in PubMed, PsycINFO, and Embase (2000–2025) using keywords including “22q11.2 deletion syndrome,” “ADHD,” “autism,” “anxiety,” “mood disorders,” “psychosis,” and combinations thereof. Included were peer-reviewed original studies, cohort analyses, and reviews in English reporting psychiatric phenotypes in participants aged ≤18 years. Excluded were animal studies and case reports <5 subjects.
Results: ADHD (30–50%), anxiety disorders (25–60%), ASD (10–30%), mood disorders (increasing in adolescence to ~15%), and emerging psychosis (rare in childhood, but increasing into adolescence/adulthood up to ~30%) are all significantly elevated. There is substantial comorbidity and developmental change: ADHD and ODD predominate in childhood; anxiety and mood disorders rise in adolescence; psychotic spectrum disorders emerge later. Assessment methods vary (clinical interview vs screening tools), contributing to prevalence heterogeneity.
Conclusion: Children with 22q11.2DS manifest complex, evolving psychiatric profiles. Routine developmental surveillance and early psychiatric screening are essential. Research must address methodological heterogeneity and develop targeted interventions. .
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References
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