Fittanto, Sarah

Abstract Background DDX3X- syndrome is a rare neurodevelopmental disorder characterized by varying degrees of intellectual disability, predominantly affecting females. We present an institutional cohort supplemented by a systematic literature review, expanding the cardiovascular phenotype of DDX3X- syndrome. Methods We conducted a retrospective chart review of patients diagnosed with DDX3X -syndrome at Mayo Clinic. Additionally, we performed a systematic literature review to identify studies reporting cardiovascular abnormalities in patients with DDX3X -syndrome. Results A total of 200 patients with DDX3X -syndrome were analyzed, comprising 14 patients from our institutional cohort and 186 patients identified through a systematic review of 9 published studies. Our institutional cohort included 14 patients (12 females and 2 males) from 13 unrelated families diagnosed with DDX3X -syndrome, at a median age of 4.5 years (IQR 1.2–9.5). Echocardiogram was performed on nine patients, and cardiovascular abnormalities were found in 7 out of 9 patients who underwent echocardiography (78%), two of whom had major congenital heart defect (CHD) requiring surgical intervention. At the time of assessment, 13 individuals were still alive, while one had died at age six due to extracardiac complications. The systematic review included 9 studies involving 186 patients, of whom 32 (17.4%, 25 females and 7 males) had reported cardiovascular abnormalities, ranging from simple CHDs to more complex defects. Conclusion DDX3X -syndrome carries a significant cardiovascular burden, which is possibly higher than previously reported, including complex congenital heart disease requiring surgical repair. A thorough cardiovascular assessment, including an electrocardiogram and echocardiogram, should be universally recommended for all patients at the time of diagnosis.

Abstract Social Determinants of Health (SDoH), such as education level, housing status, lived environment, and socioeconomic status, can create obstacles to accessing healthcare services, particularly for minoritized people and individuals with chronic health conditions. While previous research shows that addressing SDoH can lead to positive health outcomes, no studies have investigated the role of SDoH in genetic counseling. This mixed‐methods study aimed to clarify if genetic counselors (GCs) are aware of SDoH, and if knowing a patient's specific SDoH would prompt GCs to change their approach to that patient's care. An online survey was sent to GCs, consisting of scenario‐based questions to explore whether knowledge of a patient's SDoH information prompts changes in approaches to care. Nearly 45% of respondents reported only somewhat to no familiarity with SDoH. However, respondents with moderate to extreme familiarity with SDoH were 1.58 times more likely to modify patient care to address SDoH than those with little to no familiarity ( p = 0.003). However, nearly half of the respondents reported that their electronic medical record (EMR) system does not display SDoH information. Qualitative analysis demonstrated that GCs would use SDoH information to make specific changes in counseling content, identify resources, provide referrals to services such as local resources or social work, and offer alternative service delivery methods. These preliminary findings suggest that GCs can leverage SDoH data to help patients overcome obstacles stemming from SDoH and highlight areas for improvement within healthcare systems and education. Healthcare institutions should consider effective workflows to accurately capture and display SDoH within the EMR and increase efforts surrounding SDoH education. An earlier introduction to SDoH through GC training programs could promote higher familiarity with SDoH. Together, increased SDoH awareness and easier access to information about patient‐specific barriers may lead to an increase in GC‐initiated interventions to address disparities stemming from SDoH.