Preliminary studies suggested that headache disorders are more common in patients with joint hypermobility syndrome (JHS). The objectives of this study were to determine if the prevalence, frequency, and disability migraine differ between female JHS a control population. Twenty-eight 232 controls participated case-cohort study. Participants underwent structured verbal interview assigned diagnosis based on criteria International Classification Headache Disorders, 2nd Edition. primary outcome...

Objective: CHARGE syndrome (CS) is a genetic disorder caused by pathogenic variants within chromodomainhelicase DNA-binding protein 7 (CHD7). The classical presentation includes coloboma,congenital heart defects, atresia of the choanae, retardation development, genital hypoplasia, andear anomalies. Clinical varies widely type and severity. Structural anomalies earcause hearing loss in 93 percent individuals with CS. Factors to predict degree hearingloss among individual patients CS have not...

Real world data is increasingly used for regulatory decisions. Based on guidance documents quality and relevancy real data, TransCelerate released considerations audit readiness in 2023. However, the content level of detail actual documentation needed evidence submissions to Food & Drug Administration are unclear. A group leaders from International Society Pharmacoepidemiology, Professional Health Economics Outcomes Research, convened develop a tangible view package justifying relevance...

Supervision is critical to the training of genetic counselors. Limited research exists on influence supervision and experience development counseling supervisors. The purpose this study was investigate impact in addition supervisory clinical identity development, perceived confidence competence supervisors have their own skills. In addition, we explored counselors' (N = 291) interest barriers as well perspectives requirements for Results indicated experience, formal are positively associated...

Abstract This study describes the development of a self‐efficacy scale that is specific to genetic counseling and based both on Bandura's theory ( 2006 ) Accreditation Council for Genetic Counseling practice‐based competencies (2013). The phase 1 validation compared students n = 20) counselors 18). Nine items were removed from at this point lack discrimination or redundancy. 2 included larger cohort 168). Factor analysis identified six factors accounting 58% total variance. Cronbach's alpha...

Clinical supervision is an essential element in training genetic counselors. Although live has been identified as the most common technique utilized counseling, there limited information on factors influencing its use well of other techniques. The purpose this study was to identify barriers supervisors face when implementing All participants (N = 141) reported utilizing co-counseling. This used with novice students (96.1%) and intermediate (93.7%). Other commonly techniques included where...

Abstract The purpose of this study was to determine if a genetic counseling student's perception the supervisory working alliance (SWA) is related their self‐efficacy on select clinical practice‐based competencies (PBCs), evaluating second tenet Reciprocal Engagement Model Supervision (REM‐S) from student perspective. Second year students ( N = 168) completed survey containing demographic and rotation experience questions, Supervisory Working Alliance Inventory‐Trainee Form (SWAI‐T), Genetic...

Purpose: To identify symptoms and health care interactions with patients riboflavin transporter deficiency (RTD) type 2 prior to diagnosis. Methods: Parents of children (n = 10) were interviewed collect data on the patient’s clinical journey. Results: The average diagnostic delay was 27.6 months. Neurologists most commonly visited clinician (90%). Common during first year journey included abnormal gait and/or ataxia (70%), nystagmus (50%), upper body muscle weakness (40%). Prior diagnosis,...

Hypermobile Ehlers–Danlos syndrome (hEDS) is a common inherited connective tissue disorder characterized by joint hypermobility. The natural history of aortic root dilation (AoD), potential complication EDS, has not been well in this population. We describe the size large cohort patients with hEDS. A 325 HEDS was identified at Cincinnati Children's Hospital Medical Center (CCHMC), including 163 from previous study. records were reviewed and each participant's height, weight, dimensions up to...

To determine factors influencing patients to choose prenatal or postnatal repair of their child's myelomeningocele (MMC) when both treatment options are offered.We distributed a retrospective survey via email and social media parents children with MMC who were offered surgery as intervention options.A total 127 surveys met all inclusion criteria. The majority responders considered partner's opinion (85%), maternal risks (71%), risk for preterm labor (76%) influencers. Financially, the costs...

Many genetic counselors provide supervision to students during their career. Previous studies have shown counselors, in general, are at increased risk for developing compassion fatigue. The purpose of this study was determine if there a difference fatigue and burnout levels who currently supervise compared do not. Genetic practice clinical setting (N = 391) completed an online survey containing demographic questions, the Professional Quality Life Scale, State-Trait Anxiety Inventory,...

Abstract Clinical experience is an important part of the training required in genetic counseling graduate programs, but little evidence exists for number clinical cases a student may need order to confidently perform skills. The purpose this study was further describe relationship between self‐efficacy and core students log during their training. In study, second year nearing end completed questionnaire that included Genetic Counseling Self‐efficacy Scale (GCSES) questions related students'...

Potential advantages and disadvantages of doctoral training in genetic counseling have been debated. In this study, individual interviews were conducted to characterize the practice attitudes counselors who achieved degrees any field. Participants ( N =31) more likely spend time research less clinic than general. Advantages identified by participants consistent with theorized advantages, included increased knowledge, wider roles, additional opportunities greater respect. Disadvantages...

Abstract Demonstrating validity of a tool for genetic counseling self‐efficacy could help determine if this is useful training outcomes or other purposes in the field. The purpose current study was to describe relationship between self‐efficacy, measured by scores on Genetic Counseling Self‐Efficacy Scale (GCSES), personality characteristics, clinical and performance American Board Counselors (ABGC) board certification examination. counselors, recruited via email through National Society...

Genetic counselors who receive formal training report increased confidence and competence in their supervisory roles. The effectiveness of specific supervision has not been assessed previously. A day-long GC conference was designed based on published competencies attended by 37 genetic counselors. Linear Mixed Model post-hoc paired t-test used to compare Psychotherapy Supervisor Development Scale (PSDS) scores among/between individuals pre post conference. Generalized Estimating Equation...

Abstract Educational use of clinical simulation is a way for students to immerse themselves within realistic yet safe and structured environment as they practice skills. It widely used in healthcare training evaluation, there are best practices design, implementation, debriefing, assessment. An increasing number genetic counseling graduate programs various ways, ranging from role‐plays working with professional simulated/standardized patient (SP) actors. At this time, very little consistency...

Hallermann-Streiff syndrome (HSS; OMIM 234100) is a rare comprising characteristic facial features with frontal bossing, small and pinched nose micrognathia; ocular defects including congenital cataracts microphthalmia; skin atrophy; hypotrichosis; dental anomalies; short stature. Around 200 patients have been reported almost all cases sporadic. Although variant in the CHD6 gene was described one patient disorder suspected to genetic basis, etiology remains unknown for most cases.

Abstract Pathogenic variants in moderate penetrance breast cancer susceptibility genes, such as ATM and CHEK2 , confer a two‐ to five‐fold increased lifetime risk for cancer. The National Comprehensive Cancer Network has guidelines surgeons utilize when counseling women with pathogenic these genes; however, previous studies indicate that other factors impact surgeons' recommendations patients. This study investigated influencing management presented by genes. Focus groups interviews were...