Publications

BACKGROUND: Gender diverse adolescents and young adults (AYA) experience disproportionately high rates of sexual violence victimization (SVV), suicidal thoughts and behaviors (STBs), and adverse mental health outcomes. Limited qualitative research has explored how acute SVV influences mental health and STBs among this population.

AIMS: This study aimed to explore how acute SVV influences STBs and mental health among gender diverse AYAs.

METHODS: This qualitative study was conducted from June to July 2025. Seventeen gender diverse young adults aged 21 to 24 years participated in semi-structured interviews exploring experiences of sexual violence, STBs, coping strategies, minority stress, support systems, and mental health outcomes. Interviews were analyzed using thematic analysis with constant comparison. Two reviewers achieved substantial interrater reliability (κ = .808).

RESULTS: Five themes captured the impact of sexual violence on identity, mental health, and relationships. Participants described erosion of self-worth, internalized stigma, and loss of trust following sexual violence. Psychological outcomes included depression, anxiety, posttraumatic stress disorder symptomatology, and STBs, often intensified by discrimination, racism, and transphobia. Interpersonal effects included fear of intimacy and social withdrawal. Disclosure and help-seeking were shaped by distrust; however, supportive confidants and online communities facilitated emotional validation. Participants described a range of coping strategies, from avoidance and substance use to creative and goal-directed activities.

CONCLUSION: Acute SVV is associated with substantial impacts on psychological functioning and suicide risk among gender-diverse AYA. Trauma-informed, person-centered interventions are needed to support adaptive coping and improve mental health outcomes.

BACKGROUND: Sleep disturbance is a core feature of bipolar disorder (BD) and often precedes mood recurrence, particularly in youth. Smartphone-based mobile sensing offers a scalable alternative to objective sleep measurement via actigraphy, but its validity in youths with BD is unclear.

METHODS: Analyses included adolescents and young adults (ages 14-25) with BD-I/II from the PROMPT-BD study with at least four days of concurrent actigraphy and mobile sensing. Actigraphy-derived sleep metrics were compared with smartphone-derived proxies. Agreement was evaluated using root mean squared error (RMSE) and mixed-effects models. Zero-inflated negative binomial models examined associations between actigraphy-derived and mobile-sensing derived wake after sleep onset (WASO). Sensitivity analyses tested robustness to missing data, smartphone use patterns, sleep window definitions, operating system, presence of mood symptoms and anxiety, and weekend effects.

RESULTS: Mobile sensing showed strong convergence with actigraphy for sleep timing and duration. RMSEs were <21 minutes for onset, offset, midsleep, and TST, with strongest agreement for midsleep (RMSE = 14.8 minutes). Mobile sensing slightly overestimated sleep duration and estimated earlier timing, and underestimated WASO. Greater WASO significantly increased the odds of detecting any via mobile sensing; mobile sensing proxies were sensitive to the presence of nocturnal wakefulness but did not provide an accurate estimate of the extent of sleep fragmentation. Findings were robust across sensitivity analyses.

CONCLUSIONS: Passive smartphone-derived sleep metrics approximated actigraphy-based estimates of sleep timing and duration in youth with BD. Given the widespread availability of smartphones in this population, this supports their potential as scalable tools for monitoring circadian disruption and informing early intervention.

BACKGROUND: Best Case/Worst Case (BC/WC) is a communication tool to support nephrologists and older adults with advanced chronic kidney disease with decisions about dialysis. We compared the effectiveness of training nephrologists to use BC/WC versus usual care on receipt of palliative care, quality of life (QOL), quality of communication, dialysis initiation, and death.

PARTICIPANTS AND SETTING: From February 2021 to December 2023, we enrolled patients at 10 US sites who were ≥ 60 years, had an estimated glomerular filtration rate (eGFR) ≤ 24 mL/min/1.73m2, with estimated survival ≤ 18 months, and were considering dialysis initiation in the outpatient setting. We randomized nephrologists to intervention or usual care.

METHODS: In this cluster randomized trial, we followed patients for up to 2 years using chart review and patient and caregiver surveys. The primary outcome was receipt of palliative care within 12 months of patient enrollment.

RESULTS: We enrolled 68 nephrologists (36 intervention) and 268 patients (105 intervention). On intention-to-treat analysis, receipt of palliative care within 12 months did not significantly differ between groups (hazard ratio (HR) 0.94, 95% Confidence Interval (CI), 0.59-1.52; p = 0.812). Patients of intervention nephrologists were more likely to initiate dialysis (HR, 1.50, 95% CI, 1.00-2.25; p = 0.048) and report worse QOL throughout the study (FACIT-Pal effect estimate, -6.51; 95% CI, -12.20, -0.81; p = 0.025; FACT-G effect estimate, -4.78; 95% CI, -8.35, -1.22; p = 0.010). We found no significant differences in intensity of treatment at the end of life, quality of communication, or on-study death between groups.

CONCLUSION: Training nephrologists to use the BC/WC communication tool does not significantly affect receipt of palliative care or other measurable clinical outcomes.

TRIAL REGISTRATION: NCT04466865 (URL: clinicaltrials.gov/study/NCT04466865), registered 07/07/2020.

BACKGROUND: It is difficult for patients to make informed decisions about kidney failure unless they know all their treatment options. Conservative management is an important option infrequently presented alongside other kidney failure treatments by nephrologists.

METHODS: We conducted a randomized pilot trial testing the feasibility and acceptability of a communication tool, called Conservative Kidney Management Jumpstart Tool, in assisting nephrologists with discussing conservative management with their patients. We recruited patients aged ≥75 years with stage 4 or 5 chronic kidney disease in the greater Seattle area between April 2023-May 2025. Patients were randomized in 1:1 fashion to either their nephrologists receiving the Tool to use with them at their next clinic visit (intervention) or usual care (control). Our primary outcome and feasibility measure was patient-reported discussion of conservative management during the clinic visit. Our secondary outcome and acceptability measure was change in patients' satisfaction with their nephrologist's serious illness communication skills (using the Quality of Communication Scale, with higher scores indicating higher quality) before and after the visit. We performed an intent-to-treat analysis of the primary endpoint using a chi-square test. We used paired-samples t-tests to assess within-patient changes in the secondary endpoint.

RESULTS: We randomized 74 patients (age 80±1, 19% women, 69% White) to either the control (n=37) or intervention (n=37) group. Patients whose nephrologists received the Tool were more likely to discuss conservative management during their clinic visit (60% vs. 19%, p=0.001) than patients in the control group. Patients whose nephrologists received the Tool rated their nephrologist's communication skills at 7.5±2.1 before the visit and 9.0±1.7 after the visit (p<0.001) as compared with 7.8±1.9 and 7.9±1.8 (p=0.54), respectively, among patients in the control group.

CONCLUSIONS: The Tool was feasible and acceptable to patients, promoting patient-nephrologist discussion of conservative management and improving patients' satisfaction with their nephrologist's communication skills.

Low bone mineral density (BMD) in individuals with phenylketonuria (PKU) due to phenylalanine hydroxylase (PAH) deficiency has been variably reported in the medical literature, but the clinical significance of this observation has been uncertain. We measured BMD in a cross-sectional cohort of 117 individuals with PAH deficiency between 6.2 and 56.8 years age who participate in the PHEFREE Consortium Longitudinal Natural History Study. 49% of children under age 18 years and 26% of adults were consuming a phenylalanine (Phe)-restricted diet, supplemented with low Phe or Phe-free medical foods and treated with sapropterin dihydrochloride. 22% of adults and 32% of children were not responsive to sapropterin and were treated with dietary Phe restriction and supplementary medical foods alone. 20 adults (37%) reported receiving enzyme replacement therapy with pegvaliase. Phenotype predictions from the genotypes of the participants in these three treatment groups were predominantly classical PKU. Participants with mild PKU or mild hyperphenylalaninemia (HPA) phenotypes treatable with sapropterin alone without the need for medical foods made up 9% of adults and 14% of children in the study cohort. Mean (± SD) blood phenylalanine (Phe) concentrations over the year prior to bone densitometry studies measured 449 ± 336 μM in the entire study cohort. Mean BMD z-scores for both adults and children in all body regions were negative with the difference between study participants and the comparator non-PKU population reaching statistical significance (p < 0.05). At least one z-score was <-2 in 15% of children and 10% of adults with PKU (2.3% expected). These differences were apparent in some children already at 6 years age, the earliest time point measured. Mean BMD was more negative in individuals with history of fracture than in those without, but this difference did not reach statistical significance. Multivariate analysis revealed a positive correlation between BMD and body mass index (BMI) in children, with minor contributions from age and natural protein intake. There was no correlation between BMD and blood Phe concentration measured in the year prior to BMD measurement. The pathophysiologic mechanism causing and the clinical significance of these differences remain uncertain, but concern persists that low BMD in this relatively well-treated cohort could portend frank osteopenia and increased fracture risk as these individuals reach advanced age. Whether novel therapeutics, that both correct hyperphenylalaninemia and allow increased dietary intact protein intake, will impact bone mineralization is yet unknown. Longitudinal monitoring of BMD throughout the lifespan is warranted.

CONTEXT: Hospice and palliative medicine (HPM) clinicians increasingly care for patients with serious illness and prolonged opioid exposure, yet often report limited training managing consequences like opioid misuse or opioid use disorder (OUD). Little is known about core addiction skills training in HPM physician fellowships.

OBJECTIVES: To describe current training in core addiction skills for HPM fellows, identify barriers to curricular expansion, and characterize fellowship program director (PD) perspectives and priorities.

METHODS: Cross-sectional national survey of PDs from ACGME-accredited HPM fellowships in the United States assessing core addiction skills training, PD perspectives, and curricular challenges and priorities.

RESULTS: Of 160 eligible programs, 79 PDs responded (49.4%). Most PDs rated addiction training as highly relevant (86%) and important (75%) to HPM practice. PDs perceived that fellows have low confidence with opioid misuse or OUD, despite commonly encountering such patients. Most programs offered limited training (2-3 hours), though many provided electives. Fewer than 20% of programs had faculty with formal addiction training, and 25% reported no faculty with buprenorphine experience. The most frequently cited barriers to curricular expansion were limited faculty expertise in addiction and buprenorphine, and competing curricular priorities. While foundational skills were commonly addressed, PDs identified curricular development priorities including: buprenorphine use, pain management in OUD, and motivational interviewing.

CONCLUSION: Despite broad recognition of the importance of core addiction skills, a shortage of faculty expertise constrains education in HPM physician fellowships. Scalable, technology-enabled, shared curricular approaches may help expand access to expertise and better align training with clinical demands.

Prenatal diagnosis of congenital heart disease (CHD) causes parental distress, at least in part due to uncertainties regarding the diagnosis, prognosis, treatment, and family impact. In initial fetal cardiology consultations, over half of dialogue focuses on uncertainties, and clinician communication can influence how parents cope. No prior study has gathered parental perspectives on what would be helpful when communicating about uncertainties in these initial conversations. The objective of this study was to gather parental perspectives on optimal clinician-caregiver communication about uncertainties after prenatal CHD diagnosis. Parents who received a prenatal diagnosis of CHD at one of two fetal cardiology centers were recruited to participate in a web-based concept mapping project conducted using four sequential activities. First, brainstorming collected responses to the prompt: "What are some things the team can do or say to help parents with the things that are not yet known?" Second, sorting grouped similar statements gathered during brainstorming. Third, rating assessed each statement in terms of perceived parental importance and impact using a Likert scale. Finally, after multidimensional scaling and hierarchical cluster analysis, parents participated in small group interpreting sessions, during which the findings were examined to identify targets for future intervention. We enrolled 31 parents, including 23 mothers, 8 fathers, and 2 bereaved parents. All received a CHD diagnosis between 2020 and 2023. Average participant age was 33 years (interquartile range: 5 years). Participants brainstormed 108 statements; they then sorted 90 distinct statements into 7 categories, called clusters. Clusters included topics of conveying empathy, educating about the diagnosis, preparing families to face uncertainties, and providing resources and support. Overall, the cluster, "Empathy from Professionals" was rated most important. "Empathy from Professionals" and "Realistic Expectations for after Birth" were rated as most impactful. This study identifies parent-prioritized, actionable communication strategies for addressing uncertainty after prenatal CHD diagnosis. Parents emphasized the importance of empathic communication, anchoring uncertainty within known and controllable factors, realistic expectations, and access to practical and peer support. These findings provide potential context-specific intervention targets for optimizing clinician-caregiver communication in fetal cardiology.

BACKGROUND: Children with rare diseases and their family caregivers must manage extraordinary care needs, significant symptom burdens, and uncertain prognoses. Pediatric Advanced Care Planning (pACP) is a promising communication-based approach to better support these families. However, empirical evidence regarding the efficacy of pACP among this population is lacking. In response, our team developed and successfully pilot-tested FACE-Rare (FAmily-CEntered Advance Care Planning - Rare Disorders).

METHODS & DESIGN: This manuscript describes the protocol for a randomized controlled trial evaluating FACE-Rare's efficacy for improving family quality of life (QOL). We aim to enroll 160 families (child-family caregiver dyads/triads) from three pediatric health systems across the United States. Families will be randomized 1:1 to FACE-Rare or an enhanced treatment as usual control. FACE-Rare is delivered by trained facilitators over three 60-min sessions either virtually (videoconference) or in-person. FACE-Rare utilizes the Carer's Alert Thermometer to identify and address a family's palliative care needs and the Respecting Choices: Next Steps pACP interview to facilitate future medical decision-making. Our primary outcome is family caregiver QOL (caregiver appraisal, emotional distress, and existential well-being). Secondary outcomes include families' palliative care needs and social connection. An exploratory aim seeks to describe the interactions between sociodemographic characteristics (e.g., household income) and family caregiver QOL.

CONCLUSION: This is the first randomized controlled trial testing the efficacy of a pACP intervention tailored for families of children with rare diseases. Findings will provide critical evidence about the impact of pACP on family caregiver QOL and medical decision-making for this underserved population.