One in four children and adolescents with Turner syndrome receives a neurodevelopmental disorder diagnosis at some point in childhood — roughly twice the rate seen among peers without the chromosomal condition. The figure comes from one of the largest population-based studies conducted to date in the United States, which compared 2,145 young people with Turner syndrome against 8,580 matched female controls across six pediatric health systems.
Researchers calculated the odds of diagnosis using statistical models that account for clustering of data within each center. The result for neurodevelopmental disorders was striking: 24.2% of young people with Turner syndrome had at least one such diagnosis, compared with 11.9% of controls, an odds ratio of 2.37 with a 95% confidence interval of 2.11 to 2.67. The most frequent categories were speech and language disorders, motor disorders, learning problems and attention disorders.
The study also found elevated odds of autism spectrum disorder and intellectual developmental disorder in the Turner syndrome group. Both diagnoses, however, remained relatively uncommon in absolute terms: most young people with Turner syndrome did not have them. That nuance matters in order to avoid two opposite mistakes — minimising real difficulties, or turning a relative risk into an inevitable destiny.
The most unexpected finding appeared in mental health. Diagnoses of anxiety and mood disorders were not more prevalent in Turner syndrome than in controls: 17.3% versus 18.5%, an odds ratio of 0.92 with a confidence interval of 0.81 to 1.05 — no appreciable difference. The authors interpret this cautiously and offer several possible explanations: that mental health symptoms are underdiagnosed in this population, that they present differently from the usual pattern, or that they emerge later in development, beyond the pediatric window covered by the study.
The practical consequence the authors highlight is the need for proactive, systematic neurodevelopmental screening in every child with Turner syndrome, rather than waiting for language or school difficulties to become obvious. The high frequency of speech, motor, learning and attention disorders justifies regular assessment and early support, while the apparent absence of excess anxiety and depression diagnoses invites a review of how these problems are detected and recorded in pediatric practice.
Source: Neurodevelopmental and Mental Health Diagnoses Among Pediatric Patients With Turner Syndrome: A PEDSnet Study. Hutaff-Lee C, Jolliffe M, Swenson KS, Wakeman H, Swain D, Furniss A, Nokoff N, Hansen-Moore J, Ikomi C, Bamba V, Lean RE, Leonard S, Davis SM. American Journal of Medical Genetics Part A 2026;200(2):308-315. DOI: 10.1002/ajmg.a.64231.
