Spectrum of neuropsychological challenges in Turner syndrome

Abstract

Introduction: Turner syndrome (TS) is associated with significant neuropsychological challenges, and screening is recommended at key transition stages. Our goal was to describe the institutional experience of formal neuropsychological assessments in TS and assess differences by karyotype.

Methods: Data were abstracted by retrospective chart review of completed assessments between January 1, 2019, and October 31, 2022, referred from the newly established multidisciplinary clinic, and descriptive statistical analyses were presented (SAS V9.4).

Results: Of 114 patients, 38 (33%) had completed neuropsychological assessment at a median age of 11.3 years (IQR 6.5-14.9). Median full-scale IQ (FSIQ) was lower in those with a 45,X karyotype compared with other karyotypes (p = 0.027) but did not meet statistical significance at the adjusted significance level for multiple comparisons. Lower median non-verbal IQ [performance intelligence quotient (PIQ)] relative to verbal IQ (VIQ) was observed. Diagnoses of attention-deficit hyperactivity disorder (ADHD) (26%) and anxiety disorder (26%) were common followed by specific learning disorder (mathematics; 18%) and autism spectrum disorder (16%).

Discussion: The prevalence of neuropsychological abnormalities in our diverse clinic underscores the importance of early and routine neuropsychological testing in TS.

Keywords: Turner syndrome; anxiety; genetic syndromes; learning disorder; neuropsychology.