LAUSR

INTRODUCTION Turner syndrome (TS) results from a complete or partial loss of the X chromosome and affects 25-50 per 100,000 females. These individuals have characteristic neurocognitive and psychological profiles with an increased lifetime prevalence of mood disorders, such as depression and anxiety. Consensus guidelines recommend the use of psychometrically-robust tools to screen for these conditions (1, 2). We propose a sustainable and informative approach to routine anxiety screening in individuals with TS and describe the prevalence of anxiety, genotype-phenotype associations, and impact of co-morbidities on anxiety. METHODS We pilot the use of a self-administered version of the validated Pediatric, Parent Proxy, and Adult Patient-Reported Outcomes Measurement Information System (PROMIS®) Anxiety tool during routine visits to the Cincinnati Children's Hospital Medical Center (CCHMC) TS clinic from October 2019 to March 2020. RESULTS Ninety-two eligible TS females, ages 8-62 years, received the PROMIS® Anxiety measure. Elevated anxiety scores, >1 standard deviation above the T-score mean, were present in 65% of patients (38% mild, 19% moderate, and 8% severe). Results were discussed during the clinic visit, and referral for further evaluation and treatment was offered. There was no apparent genotype-phenotype association among females with anxiety; however, there appeared to be elevated anxiety symptoms (T-score > 60) in those with hearing deficits and also in individuals with three or more medical co-morbidities. Of the 55% of patients who filled out the acceptability survey, 88% found the process helpful and ~50% felt that screening should be performed at least every 6 months. CONCLUSION Our study demonstrated a high prevalence of anxiety symptoms within a cohort of 92 females with TS. In alignment with current guidelines, these findings indicate the importance of routine neuropsychological assessments for timely recognition and subsequent management of anxiety, especially as milder presentations may otherwise go unnoticed. We have shown that screening tools, such as the PROMIS® Anxiety measure, can be easily utilized by non-mental health care providers (i.e. endocrinologists) who may see TS patients more frequently and be able to initiate impactful discussions surrounding mental health and further referral to subspecialists for expert management.