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

This study looked at learning difficulties and mental health in over 2,000 children with Turner syndrome compared to typical children. Children with Turner syndrome were twice as likely to have learning challenges, especially with speech, movement, and attention. However, they didn't have higher rates of anxiety or depression than other children, which surprised researchers who wonder if these issues might be missed or appear differently in Turner syndrome.

This large-scale study examined neurodevelopmental and mental health diagnoses in 2,145 youth with Turner syndrome compared to 8,580 matched female controls across six US pediatric health systems. Results showed youth with Turner syndrome had significantly higher rates of neurodevelopmental disorders (24.2% vs 11.9%), particularly speech-language, motor, learning, and attention difficulties. Autism spectrum disorder and intellectual developmental disorder were also more common, though remained relatively rare. Surprisingly, mental health conditions like anxiety and mood disorders were not more prevalent in the Turner syndrome group (17.3% vs 18.5%).

These findings highlight the importance of proactive neurodevelopmental screening for Turner syndrome patients while raising questions about potential underdiagnosis of mental health conditions in this population.

Findings support implementing routine neurodevelopmental screening protocols for Turner syndrome patients. Clinicians should maintain vigilance for speech, motor, learning, and attention difficulties. The unexpected lack of increased mental health diagnoses warrants further investigation and may indicate need for enhanced mental health screening approaches.

The study relies on diagnostic codes from health records which may underrepresent certain conditions. Mental health symptoms might be underdiagnosed, present differently, or emerge later in Turner syndrome youth, limiting accurate prevalence comparisons.

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.