Group meditation, addressing stigma, and "mental health days": Recommendations for integrating self-awareness practices into genetic counseling graduate programs.

Genetic counseling graduate programs provide a rigorous curriculum comprised of coursework encompassing counseling and medical genetics, fieldwork, and research experience. Students face similar emotional and mental demands as practicing genetic counselors while also experiencing stressors commonly associated with graduate study. Increased self-awareness may help combat these stressors. This mixed-methods study surveyed 154 genetic counseling graduate students to determine the types of self-awareness practices they would like to have included in their graduate training and surveyed 11 program faculty regarding the feasibility of implementing these practices. The students' most preferred practices were self-reflection (n = 73, 47.4%), support from peers, colleagues, and/or supervisors (n = 71, 46.1%), and mental health counseling (n = 71, 46.1%). Analysis of responses to open-ended questions capturing students' recommendations for programs yielded six recurrent themes: (1) Consistent, Structured Practice with Accountability, (2) Emphasis on Mental Health, (3) Practical Techniques, (4) Access to Resources, (5) Encouragement and Support, and (6) Barriers to Implementation. Many students suggested that programs should incorporate repetitive exercises that could be implemented on a schedule with an emphasis on consistency (Theme 1). Students also emphasized the importance of providing exposure to multiple examples of self-awareness practices, so they could find an approach that was most beneficial on an individual basis (Theme 3). These findings were shared with program faculty via a presentation at the Association for Genetic Counseling Program Directors annual meeting, and attendees were subsequently surveyed regarding self-awareness practices currently integrated into their curriculum, as well as the feasibility and likelihood of integrating new practices. Program faculty respondents indicated that most of the recommended practices were included in their curriculum already or would be feasible and likely to incorporate. These results provide insight into the attitudes of genetic counseling students toward structured practice in self-awareness and how genetic counseling graduate programs might integrate such practices into the curriculum.

Building a foundation in self-awareness: Genetic counseling students' experiences with self-care, reflection, and mindfulness.

Stress and anxiety are significant concerns for practicing genetic counselors as well as genetic counseling students and can have downstream effects on patient care. Prior research suggests graduate-level training in self-awareness practices such as self-care, reflection, and mindfulness could have lasting effects for genetic counselors, their patients, and the profession as a whole. This mixed-methods study assessed self-awareness among 154 genetic counseling graduate students using the Self-Reflection and Insight Scale (SRIS), the Mindfulness Attention Awareness Scale (MAAS), and self-described experiences with self-awareness practice. Genetic counseling students had significantly lower mean scores on the MAAS and the Insight subscale of the SRIS compared with other health professionals, indicating that genetic counseling students have lower levels of mindfulness and may lack insight into their thoughts and feelings. After starting genetic counseling graduate programs, students were more likely to reduce participation in active self-awareness practices such as physical activity and mental health counseling. Most students reported having structured practice in self-care (n = 97, 63%), reflection (n = 125, 81.2%), and mindfulness (n = 77, 50%) as a part of their training programs. Second-year genetic counseling students reporting mindfulness practices had significantly higher scores on the Insight subscale of the SRIS than those who did not, indicating that students engaged in mindfulness practice are better able to understand their thoughts, feelings, and behavior. The majority of students reported benefitting from structured practice in self-care (n = 63, 64.9%), reflection (n = 101, 80%), and mindfulness (n = 54, 70.1%). Open-ended responses regarding students' perceived benefits and limitations of structured practice were analyzed for recurrent themes. Students reported improved self-awareness which enhanced their counseling relationships during clinical rotations. However, they also perceived that implementation of self-awareness practices may have been inconsistent. Findings from this study have implications for integrating self-awareness practices into genetic counseling graduate curriculum.

Prenatal ultrasound diagnosis of Seckel syndrome with bi-allelic variant in TRAIP via exome sequencing.

We present two consecutive pregnancies with shared ultrasound findings-sloping forehead, micrognathia, ambiguous genitalia, brachycephaly, short extremities, single umbilical artery, choroid plexus cysts, and clenched hands. Subsequent whole exome sequencing identified TRAIP gene variants implicating diagnosis of Seckel syndrome 9 (SCKL9). Prenatal testing in subsequent pregnancy identified one variant. Our case highlights the utility of whole exome sequencing when prenatal ultrasound findings lend suspicion. Molecular confirmation allows for testing strategies in, or prior to, subsequent pregnancies. The finding of a rare, novel missense variant in TRAIP gene further implicates this mutation as having deleterious clinical manifestations.

Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

Cantú syndrome, a rare disorder of congenital hypertrichosis, characteristic facial anomalies, cardiomegaly, and osteochondrodysplasia was first described in 1982 by Cantú. Twenty-three cases of Cantú syndrome have been reported to date. The pathogenesis of this rare autosomal dominant condition is unknown. We describe 10 patients with Cantú syndrome (9 new cases and the long-term follow-up of a 10th case reported by Robertson in 1999) comparing the phenotype with that of the previously reported cases. We describe how the distinctive facial appearance evolves with time and report several new findings including recurrent infections with low immunoglobulin levels and gastric bleeding in some of our patients. The cardiac manifestations include patent ductus arteriosus, septal hypertrophy, pulmonary hypertension, and pericardial effusions. They may follow a benign course, but of the 10 cases we report, 4 patients required surgical closure of the patent ductus arteriosus and 1 patient a pericardectomy. Long-term follow-up of these patients has shown reassuring neuro-developmental outcome and the emergence of a behavior phenotype including obsessive traits and anxiety.

Carbon and nitrogen stable isotope turnover rates and diet-tissue discrimination in Florida manatees (Trichechus manatus latirostris).

The Florida manatee (Trichechus manatus latirostris) is a herbivorous marine mammal that occupies freshwater, estuarine and marine habitats. Despite being considered endangered, relatively little is known about its feeding ecology. The present study expands on previous work on manatee feeding ecology by providing critical baseline parameters for accurate isotopic data interpretation. Stable carbon and nitrogen isotope ratios were examined over a period of more than 1 year in the epidermis of rescued Florida manatees that were transitioning from a diet of aquatic forage to terrestrial forage (lettuce). The mean half-life for (13)C turnover was 53 and 59 days for skin from manatees rescued from coastal and riverine regions, respectively. The mean half-life for (15)N turnover was 27 and 58 days, respectively. Because of these slow turnover rates, carbon and nitrogen stable isotope analysis in manatee epidermis is useful in summarizing average dietary intake over a long period of time rather than assessing recent diet. In addition to turnover rate, a diet-tissue discrimination value of 2.8 per thousand for (13)C was calculated for long-term captive manatees on a lettuce diet. Determining both turnover rate and diet-tissue discrimination is essential in order to accurately interpret stable isotope data.

FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).

Aplasia of lacrimal and salivary glands (ALSG) is an autosomal dominant congenital anomaly characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems. Affected individuals present with irritable eyes and dryness of the mouth with variable expressivity. Mutations in FGF10 were recently described in ALSG and in lacrimo-auriculo-dento-digital (LADD) syndrome which are overlapping clinical entities. We present here two families with ALSG associated with missense mutations (R80S and G138E, respectively) affecting highly conserved residues in FGF10. The clinical features of these patients further broaden the knowledge of FGF10-related phenotypes.