Neurodevelopmental and Mental Health Diagnoses Among Pediatric Patients With Turner Syndrome: A PEDSnet Study.

Abstract

Individuals with Turner syndrome (TS) are known to be at increased risk for neurodevelopmental disorders (NDD) and mental health (MH) conditions, but data from large, population-based pediatric samples remain limited. We examined the prevalence of NDD and MH diagnoses among youth with TS (N = 2145) compared to matched female controls (N = 8580) across six US pediatric health systems. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using generalized estimating equations. Youth with TS had significantly higher odds of an NDD diagnosis (24.2% vs. 11.9%; OR 2.37, 95% CI 2.11-2.67), particularly for speech-language, motor, learning, and attentional disorders. Increased odds were also observed for autism spectrum disorder (ASD) and intellectual developmental disorder (IDD), though these remained relatively uncommon. In contrast, MH diagnoses, such as anxiety and mood disorders, were not more prevalent in TS compared to controls (17.3% vs. 18.5%; OR 0.92, 95% CI 0.81-1.05). These findings support the need for proactive neurodevelopmental screening in TS and raise important questions about the recognition and documentation of MH conditions in this population. Additional research is warranted to understand whether MH symptoms are underdiagnosed, present differently, or emerge later in development in youth with TS.