Improving Anxiety Screening in Patients with Turner Syndrome

Abstract

<b><i>Introduction:</i></b> 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 [Eur J Endocrinol. 2017;177(3):G1–G70 and Gynecol Endocrinol. 2004;19(6):313–9]. 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 comorbidities on anxiety. <b><i>Methods:</i></b> 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. <b><i>Results:</i></b> Ninety-two eligible TS females, ages 8–62 years, received the PROMIS® Anxiety measure. Elevated anxiety scores, ≥1 standard deviation above the <i>T</i>-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 (<i>T</i>-score >60) in those with hearing deficits and also in individuals with three or more medical comorbidities. 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. <b><i>Conclusion:</i></b> 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 nonmental 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.

Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome

“…Anxiety and depression were the most common mental health diagnoses in our population, findings that are consistent with previous work (Alexandrou et al, 2022; Lesniak‐Karpiak et al, 2003). However, we observed a lower documented prevalence of MHC in this retrospective pediatric study relative to prospective studies which have documented rates of depression in up to 62.5% of adult patients with TS (Cardoso et al, 2004; Schmidt et al, 2006).…”

“…While screening efforts may be limited by provider comfort with screening and logistical constraints (e.g., time), specialists can incorporate questions about mood, behavior, and developmental and/or school functioning into their visits and refer to mental health clinicians and/or neuropsychologists as indicated. Similarly, brief, free, and easily administered instruments, such as the Patient‐Reported Outcomes Measurement Information System (PROMIS®) have been piloted with some success in TS populations (Alexandrou et al, 2022) and could be integrated into practice. In our study, referral practices for neuropsychological and mental health services varied substantially across sites, further highlighting the need for standardized screening and referral practices for this at‐risk population.…”

“…As some patients may have accessed neuropsychology or mental health care outside of the hospital systems in which medical records were reviewed, we may not have accurately captured our patients' referrals for MHC or NC by others (e.g., primary care physicians; school counselors), or the utilization of neuropsychology and mental health care outside of the hospital setting. Information System (PROMIS ® ) have been piloted with some success in TS populations (Alexandrou et al, 2022) and could be integrated into practice. In our study, referral practices for neuropsychological and mental health services varied substantially across sites, further highlighting the need for standardized screening and referral practices for this at-risk population.…”

“…Additionally, how often patients with TS access neuropsychological and/or mental health evaluations or treatment when referrals are placed has not been previously reported. Previous work suggests that only a minority of patients with TS who experience clinically significant MHCs establish care with mental health providers (Alexandrou et al, 2022).…”

Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project

“…Routine neuropsychological assessments and psycho-diagnostic evaluations aimed at detecting and treating critical neurocognitive issues are essential in early identification of psychological and emotional problems (Statement C5), especially in adolescents transitioning to adulthood (Statement C6) [ 66 ]. Standardized questionnaires and psychometric tools are recommended for screening symptoms of anxiety and depression, and any detected symptoms should prompt further assessment by mental health specialists [ 63 , 67 ].…”