Search

Abstract Background Systematically assessing disease risk can improve population health by identifying those eligible for enhanced prevention/screening strategies. This study aims to determine the clinical impact of a systematic risk assessment in diverse primary care populations. Methods Hybrid implementation-effectiveness trial of a family health history-based health risk assessment (HRA) tied to risk-based guideline recommendations enrolling from 2014–2017 with 12 months of post-intervention survey data and 24 months of electronic medical record (EMR) data capture. Setting:19 primary care clinics at four geographically and culturally diverse U.S. healthcare systems. Participants: any English or Spanish-speaking adult with an upcoming appointment at an enrolling clinic. Methods: A personal and family health history based HRA with integrated guideline-based clinical decision support (CDS) was completed by each participant prior to their appointment. Risk reports were provided to patients and providers to discuss at their clinical encounter. Outcomes: provider and patient discussion and provider uptake (i.e. ordering) and patient uptake (i.e. recommendation completion) of CDS recommendations. Measures: patient and provider surveys and EMR data. Results One thousand eight hundred twenty nine participants (mean age 56.2 [SD13.9], 69.6% female) completed the HRA and had EMR data available for analysis. 762 (41.6%) received a recommendation (29.7% for genetic counseling (GC); 15.2% for enhanced breast/colon cancer screening). Those with recommendations frequently discussed disease risk with their provider (8.7%-38.2% varied by recommendation, p-values ≤ 0.004). In the GC subgroup, provider discussions increased referrals to counseling (44.4% with vs. 5.9% without, P

Summary: Functional assessment of genomic variants provides a promising approach to systematically examine the potential pathogenicity of variants independent of associated clinical data. However, making such conclusions requires validation with appropriate clinical findings. To this end, here, we use variant calls from exome data and BRCA1-related cancer diagnoses from electronic health records to demonstrate an association between published laboratory-based functional designations of BRCA1 variants and BRCA1-related cancer diagnoses in an unselected cohort of patient-participants. These findings validate and support further exploration of functional assay data to better understand the pathogenicity of rare variants. This information may be valuable in the context of healthy population genomic screening, where many rare, potentially pathogenic variants may not have sufficient associated clinical data to inform their interpretation directly.

Abstract Background Risk assessment is a precision medicine technique that can be used to enhance population health when applied to prevention. Several barriers limit the uptake of risk assessment in health care systems; and little is known about the potential impact that adoption of systematic risk assessment for screening and prevention in the primary care population might have. Here we present results of a first of its kind multi-institutional study of a precision medicine tool for systematic risk assessment. Methods We undertook an implementation-effectiveness trial of systematic risk assessment of primary care patients in 19 primary care clinics at four geographically and culturally diverse healthcare systems. All adult English or Spanish speaking patients were invited to enter personal and family health history data into MeTree, a patient-facing family health history driven risk assessment program, for 27 medical conditions. Risk assessment recommendations followed evidence-based guidelines for identifying and managing those at increased disease risk. Results One thousand eight hundred eighty-nine participants completed MeTree, entering information on N = 25,967 individuals. Mean relatives entered = 13.7 (SD 7.9), range 7–74. N = 1443 (76.4%) participants received increased risk recommendations: 597 (31.6%) for monogenic hereditary conditions, 508 (26.9%) for familial-level risk, and 1056 (56.1%) for risk of a common chronic disease. There were 6617 recommendations given across the 1443 participants. In multivariate analysis, only the total number of relatives entered was significantly associated with receiving a recommendation. Conclusions A significant percentage of the general primary care population meet criteria for more intensive risk management. In particular 46% for monogenic hereditary and familial level disease risk. Adopting strategies to facilitate systematic risk assessment in primary care could have a significant impact on populations within the U.S. and even beyond. Trial registration Clinicaltrials.gov number NCT01956773 , registered 10/8/2013.

Several studies have demonstrated that individuals’ ability to perceive a speech sound contrast is related to the production of that contrast in their native language. The theoretical account for this relationship is that speech perception and production have a shared multimodal representation in relevant sensory spaces (e.g., auditory and somatosensory domains). This gives rise to a prediction that individuals with more narrowly defined targets will produce greater separation between contrasting sounds, as well as lower variability in the production of each sound. However, empirical studies that tested this hypothesis, particularly with regard to variability, have reported mixed outcomes. The current study investigates the relationship between perceptual ability and production ability, focusing on the auditory domain. We examined whether individuals’ categorical labeling consistency for the American English /ε/–/æ/ contrast, measured using a perceptual identification task, is related to distance between the centroids of vowel categories in acoustic space (i.e., vowel contrast distance) and to two measures of production variability: the overall distribution of repeated tokens for the vowels (i.e., area of the ellipse) and the proportional within-trial decrease in variability as defined as the magnitude of self-correction to the initial acoustic variation of each token (i.e., centering ratio). No significant associations were found between categorical labeling consistency and vowel contrast distance, between categorical labeling consistency and area of the ellipse, or between categorical labeling consistency and centering ratio. These null results suggest that the perception-production relation may not be as robust as suggested by a widely adopted theoretical framing in terms of the size of auditory target regions. However, the present results may also be attributable to choices in implementation (e.g., the use of model talkers instead of continua derived from the participants’ own productions) that should be subject to further investigation.

Objective: This study aimed to determine the extent to which robotic arm rehabilitation for chronic stroke may promote recovery of speech and language function in individuals with aphasia.Methods: We prospectively enrolled 17 individuals from a hemiparesis rehabilitation study pairing intensive robot assisted therapy with sham or active tDCS and evaluated their speech (N = 17) and language (N = 9) performance before and after a 12-week (36 session) treatment regimen. Performance changes were evaluated with paired t-tests comparing pre- and post-test measures. There was no speech therapy included in the treatment protocol.Results: Overall, the individuals significantly improved on measures of motor speech production from pre-test to post-test. Of the subset who performed language testing (N = 9), overall aphasia severity on a standardized aphasia battery improved from pre-test baseline to post-test. Active tDCS was not associated with greater gains than sham tDCS.Conclusions: This work indicates the importance of considering approaches to stroke rehabilitation across different domains of impairment, and warrants additional exploration of the possibility that robotic arm motor treatment may enhance rehabilitation for speech and language outcomes. Further investigation into the role of tDCS in the relationship of limb and speech/language rehabilitation is required, as active tDCS did not increase improvements over sham tDCS.

Introduction Determining whether an error arises during phonological or motor-based processing is an important theoretical and clinical issue. Buchwald and Miozzo (2011, 2012) demonstrated that acoustic/articulatory properties of errors may indicate the level the errors arise. They reported two individuals who made similar errors (/s/-deletion from /s/-stop clusters, speak → [_pik]) and distinguished errors reflecting the acoustic/articulatory properties of a singleton (i.e., aspirated [p]) and those reflecting the properties of a cluster (i.e., unaspirated [p], similar to American English [b]). They reasoned that errors with the timing of singletons reflected deletions taking place during phonological processing (before motor planning was initiated) whereas errors with the timing of clusters reflected deletions that took place after motor planning initiated, reflecting the target cluster. In a post hoc analysis, they discovered that weekly repetition sessions benefited the cluster production accuracy of the individual with motor planning errors, but not the individual with phonological errors. Here we report an expansion of these findings in which we both examined additional consonant cluster errors, and systematically investigated the differential effect of the repetition task on accuracy in producing consonant sequences. We present a series of cases for whom we identified error types on the basis of the acoustic analyses discussed above and evaluated change in cluster production accuracy after repetition-treatment sessions. The individuals who predominantly produced phonological errors showed no accuracy change, whereas the individuals with predominantly motor-level errors improved in cluster production accuracy. Participants Basic information about the five participants is presented in Table 1. Each individual suffered a single left-MCA stroke. Method and procedure We designed a repetition list containing words with 12 different stop-initial and fricative-initial consonant clusters (N=244). Two baseline repetition sessions were conducted where we tested each stimulus. During training, we presented words beginning with each cluster (N=183), and training lasted 10 weeks. Training consisted solely of repetition of the words in randomized order each week. Two post-training sessions were conducted to test both trained and untrained words. The accuracy change from pre-test to post-test was computed. All deletions within any cluster were extracted for acoustic analysis; we compared the duration of the remaining segment in the deletion (e.g., /s/ in slum→s_um) with that same segment in accurately produced clusters (slum) and in singletons (sum) where possible. Results Table 1 presents the results from both components of this analysis. The two individuals who produced phonological processing errors (i.e., singleton timing) did not change in accuracy at post-test. The three other individuals whose errors indicated motor planning errors (i.e., cluster timing) improved their cluster production accuracy for trained and untrained words (M1, M2) or substantially decreased their self-corrections. Discussion This study replicated and expanded on previous work indicating that the acoustic/articulatory properties of errors can help identify error types and predict responsiveness to treatment via repetition. These crucial findings are consistent with speech motor learning research (Maas et al., 2008) and suggest a promising direction for exploring the differential diagnosis and treatment of acquired sound production disorders.