We sought to describe perspectives among Black nursing professionals and community leaders regarding the return of genetic test results, and place perspectives into context with aggregated findings in the All of Us Research Program’s Data Browser.

Semi-structured, virtual interviews were held with adults (≥18 years of age) self-identifying as Black. A 2-step thematic analysis process was used to assess interviewee perspectives with (sub)themes identified in the literature across two topics: drug/medication response and hereditary disease risk. Themes were placed into context with Data Browser content, focusing on genes and their respective alleles with frequencies ≥0.10 in African ancestry populations in All of Us.

Interviewee perspectives aligned with previously identified major themes in the literature (motivations to engage or disengage; integrating research and care), with five (5) subthemes emerging across major themes. Seven (7) alleles were observed with frequencies ≥0.10 for three (3) pharmacogenomic (PGx) biomarkers in the Data Browser for African ancestry populations: CYP2C19 (SNV, 10-94761900-C-T; SNV,10-94775367-A-G; SNV 10-94781859-G-A), DPYD (SNV, 1-97883329-A-G; SNV, 1-97515839-T-C), UGT1A1 (insertion, 2-233760233-C-CAT; SNV, 2-233757136-G-A). Four (4) alleles were observed with frequencies ≥0.10 for three (3) genes implicated in hereditary disease risk, two of which contemporaneously hold PGx implications for African ancestry populations: CACNA1S (PGx, SNV, 1-201112815-C-T; SNV, 1-201110107-C-T), SCN5A (no PGx, SNV, 3-38603929-T-C), TP53 (PGx, SNV, 17-7676154-G-C).

Our findings convey important clinical and translational science considerations for individuals and community leaders of African ancestry and researchers seeking reputable, publicly available information to understand, communicate, and act on genomic findings.

Although cognitive remediation (CR) improves cognition and functioning, the key features that promote or inhibit its effectiveness, especially between cognitive domains, remain unknown. Discovering these key features will help to develop CR for more impact.

To identify interrelations between cognition, symptoms, and functioning, using a novel network analysis approach and how CR affects these recovery outcomes.

A secondary analysis of randomized controlled trial data (N = 165) of CR in early psychosis. Regularized partial correlation networks were estimated, including symptoms, cognition, and functioning, for pre-, post-treatment, and change over time. Pre- and post-CR networks were compared on global strength, structure, edge invariance, and centrality invariance.

Cognition, negative, and positive symptoms were separable constructs, with symptoms showing independent relationships with cognition. Negative symptoms were central to the CR networks and most strongly associated with change in functioning. Verbal and visual learning improvement showed independent relationships to improved social functioning and negative symptoms. Only visual learning improvement was positively associated with personal goal achievement. Pre- and post-CR networks did not differ in structure (M = 0.20, p = 0.45) but differed in global strength, reflecting greater overall connectivity in the post-CR network (S = 0.91, p = 0.03).

Negative symptoms influenced network changes following therapy, and their reduction was linked to improvement in verbal and visual learning following CR. Independent relationships between visual and verbal learning and functioning suggest that they may be key intervention targets to enhance social and occupational functioning.

To evaluate the motor proficiency, identify risk factors for abnormal motor scores, and examine the relationship between motor proficiency and health-related quality of life in school-aged patients with CHD.

Patients ≥ 4 years old referred to the cardiac neurodevelopmental program between June 2017 and April 2020 were included. Motor skills were evaluated by therapist-administered Bruininks-Oseretsky Test of Motor Proficiency Second-Edition Short Form and parent-reported Adaptive Behavior Assessment System and Patient-Reported Outcomes Measurement Inventory System Physical Functioning questionnaires. Neuropsychological status and health-related quality of life were assessed using a battery of validated questionnaires. Demographic, clinical, and educational variables were collected from electronic medical records. General linear modelling was used for multivariable analysis.

The median motor proficiency score was the 10th percentile, and the cohort (n = 272; mean age: 9.1 years) scored well below normative values on all administered neuropsychological questionnaires. In the final multivariable model, worse motor proficiency score was associated with family income, presence of a genetic syndrome, developmental delay recognised in infancy, abnormal neuroimaging, history of heart transplant, and executive dysfunction, and presence of an individualised education plan (p < 0.03 for all predictors). Worse motor proficiency correlated with reduced health-related quality of life. Parent-reported adaptive behaviour (p < 0.001) and physical functioning (p < 0.001) had a strong association with motor proficiency scores.

This study highlights the need for continued motor screening for school-aged patients with CHD. Clinical factors, neuropsychological screening results, and health-related quality of life were associated with worse motor proficiency.

Autistic people have a high likelihood of developing mental health difficulties but a low chance of receiving effective mental healthcare. Therefore, there is a need to identify and examine strategies to improve mental healthcare for autistic people.

To identify strategies that have been implemented to improve access, experiences of care and mental health outcomes for autistic adults, and to examine evidence on their acceptability, feasibility and effectiveness.

A co-produced systematic review was conducted. MEDLINE, PsycINFO, CINHAL, medRxiv and PsyArXiv were searched. We included all study designs reporting acceptability or feasibility outcomes and empirical quantitative study designs reporting effectiveness outcomes. Data were synthesised using a narrative approach.

A total of 30 articles were identified. These included 16 studies of adapted mental health interventions, eight studies of service improvements and six studies of bespoke mental health interventions developed for autistic people. There was no conclusive evidence on effectiveness. However, most bespoke and adapted approaches appeared to be feasible and acceptable. Identified adaptations appeared to be acceptable and feasible, including increasing knowledge and detection of autism, providing environmental adjustments and communication accommodations, accommodating individual differences and modifying the structure and content of interventions.

Many identified strategies are feasible and acceptable, and can be readily implemented in services with the potential to make mental healthcare more suitable for autistic people, but important research gaps remain. Future research should address these and investigate a co-produced package of service improvement measures.

Cancer health research relies on large-scale cohorts to derive generalizable results for different populations. While traditional epidemiological cohorts often use costly random sampling or self-motivated, preselected groups, a shift toward health system-based cohorts has emerged. However, such cohorts depend on participants remaining within a single system. Recent consumer engagement models using smartphone-based communication, driving projects, and social media have begun to upend these paradigms.

We initiated the Healthy Oregon Project (HOP) to support basic and clinical cancer research. HOP study employs a novel, cost-effective remote recruitment approach to effectively establish a large-scale cohort for population-based studies. The recruitment leverages the unique email account, the HOP website, and social media platforms to direct smartphone users to the study app, which facilitates saliva sample collection and survey administration. Monthly newsletters further facilitate engagement and outreach to broader communities.

By the end of 2022, the HOP has enrolled approximately 35,000 participants aged 18–100 years (median = 44.2 years), comprising more than 1% of the Oregon adult population. Among those who have app access, ∼87% provided consent to genetic screening. The HOP monthly email newsletters have an average open rate of 38%. Efforts continue to be made to improve survey response rates.

This study underscores the efficacy of remote recruitment approaches in establishing large-scale cohorts for population-based cancer studies. The implementation of the study facilitates the collection of extensive survey and biological data into a repository that can be broadly shared and supports collaborative clinical and translational research.

Unsupervised remote digital cognitive assessment makes frequent testing feasible and allows for measurement of learning across days on participants’ own devices. More rapid detection of diminished learning may provide a potentially valuable metric that is sensitive to cognitive change over short intervals. In this study we examine feasibility and predictive validity of a novel digital assessment that measures learning of the same material over 7 days in older adults.

The Boston Remote Assessment for Neurocognitive Health (BRANCH) (Papp et al., 2021) is a web-based assessment administered over 7 consecutive days repeating the same stimuli each day to capture multi-day-learning slopes. The assessment includes Face-Name (verbal-visual associative memory), Groceries-Prices (numeric-visual associative memory), and Digits-Signs (speeded processing of numeric-visual associations). Our sample consisted of200 cognitively unimpaired older adults enrolled in ongoing observational studies (mean age=74.5, 63% female, 87% Caucasian, mean education=16.6) who completed the tasks daily, at home, on their own digital devices. Participants had previously completed in-clinic paper-and-pencil tests to compute a Preclinical Alzheimer’s Cognitive Composite (PACC-5). Mixed-effects models controlling for age, sex, and education were used to observe the associations between PACC-5 scores and both initial performance and multi-day learning on the three BRANCH measures.

Adherence was high with 96% of participants completing all seven days of consecutive assessment; demographic factors were not associated with differences in adherence. Younger participants had higher Day 1 scores all three measures, and learning slopes on Digit-Sign. Female participants performed better on Face-Name (T=3.35, p<.001) and Groceries-Prices (T=2.00, p=0.04) on Day 1 but no sex differences were seen in learning slopes; there were no sex differences on Digit-Sign. Black participants had lower Day 1 scores on Face-Name (T=-3.34, p=0.003) and Digit Sign (T=3.44, p=0.002), but no racial differences were seen on learning slopes for any measure. Education was not associated with any measure. First day performance on Face-Name (B=0.39, p<.001), but not learning slope B=0.008, p=0.302) was associated with the PACC5. For Groceries-Prices, both Day 1 (B=0.27, p<.001) and learning slope (B=0.02, p=0.03) were associated with PACC-5. The Digit-Sign scores at Day 1 (B=0.31, p<.001) and learning slope (B=0.06, p<.001) were also both associated with PACC-5.

Seven days of remote, brief cognitive assessment was feasible in a sample of cognitively unimpaired older adults. Although various demographic factors were associated with initial performance on the tests, multi-day-learning slopes were largely unrelated to demographics, signaling the possibility of its utility in diverse samples. Both initial performance and learning scores on an associative memory and processing speed test were independently related to baseline cognition indicating that these tests’ initial performance and learning metrics are convergent but unique in their contributions. The findings signal the value of measuring differences in learning across days as a means towards sensitively identifying differences in cognitive function before signs of frank impairment are observed. Next steps will involve identifying the optimal way to model multi-day learning on these subtests to evaluate their potential associations with Alzheimer’s disease biomarkers.