ArticleJournal of developmental and behavioral pediatrics : JDBP
Neurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls.
Article in Journal of developmental and behavioral pediatrics : JDBP. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- [Neuropsychiatric manifestations of sex chromosome aberrations-Clinical and therapeutic aspects of neuropsychiatric care].Der Nervenarzt · 2026Review
- Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents.Brain sciences · 2026Review
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Authors and funding
19 authors.
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Abstract
objectiveTo compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.
methodsPatients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers. Alpha was set at 0.0025 to account for multiple comparisons.
resultsPatients with SCTs had higher odds of diagnoses within the neurodevelopmental (OR 6.3, 95% CI, 5.7-7.2) and mental health composites (OR 2.7, 95% CI, 2.3-3.2) compared with matched controls. All neurodevelopmental diagnoses were more prevalent among all SCT groups compared with controls. Within the mental health composite, only the prevalence of anxiety and mood disorder was higher in all SCT groups. A higher proportion of patients with SCTs had psychotropic prescriptions compared with controls (stimulants 13.1% vs 5.2%, selective serotonin reuptake inhibitors 8.7% vs 2.8%, antipsychotics 6.5% vs 2.4%, p < 0.0001 for all). Overall, 48% of patients with SCTs had a clinical encounter with a behavioral health provider vs 16.6% of controls (OR 5.6, 95% CI, 4.1-5.1).
conclusionCompared with matched controls, youth with SCTs receiving care at US tertiary care pediatric centers have disproportionately high rates of neurodevelopmental and mental health conditions, emphasizing the need for appropriate screening and intervention in these populations.
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