Population-based assessment of neurodevelopmental and mental health diagnoses among pediatric patients with Turner
Christa Hutaff-Lee1,2,3, Morgan Jolliffe1,2, Karli S Swenson1,2
1University of Colorado Anschutz Medical Campus, Aurora, CO.
Insights
Youth with Turner syndrome (TS) have significantly higher rates of neurodevelopmental disorders (NDD), including speech, motor, and attention issues. However, mental health diagnoses like anxiety and mood disorders were not more common in TS compared to controls.
Area of Science:
- Pediatric Health
- Genetics
- Neurodevelopmental Disorders
Background:
- Turner syndrome (TS) is associated with increased risks for neurodevelopmental disorders (NDD) and mental health (MH) conditions.
- Limited population-based data exist for NDD and MH in pediatric TS populations.
Purpose of the Study:
- To examine the prevalence of NDD and MH diagnoses in youth with TS compared to matched controls.
- To identify specific NDDs more common in TS.
- To investigate MH condition prevalence in pediatric TS.
Main Methods:
- Retrospective cohort study using data from six U.S. pediatric health systems.
- Compared 2,145 youth with TS to 8,580 matched female controls.
- Used generalized estimating equations to calculate odds ratios (OR) and 95% confidence intervals (CI).
Main Results:
- Youth with TS had significantly higher odds of an NDD diagnosis (OR 2.37), particularly speech-language, motor, learning, and attentional disorders.
- Autism spectrum disorder (ASD) and intellectual developmental disorder (IDD) were more common in TS but remained relatively uncommon overall.
- No significant difference in the prevalence of mental health diagnoses (anxiety, mood disorders) was observed between TS and control groups (OR 0.92).
Conclusions:
- Findings support proactive neurodevelopmental screening for youth with TS.
- Raise questions about the underdiagnosis or later emergence of mental health conditions in this population.
- Further research is needed to clarify MH symptom presentation and diagnosis in pediatric TS.
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 = 2,145) compared to matched female controls (N = 8,580) across six U.S. 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 in youth with TS or emerge later in development.
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