The Feasibility of Telephone-Administered Cognitive Testing in Individuals 1 and 2 Years after Inpatient Rehabilitation for Traumatic Brain Injury

Traumatic brain injury (TBI) often results in cognitive impairment, and trajectories of cognitive functioning can vary tremendously over time across survivors. Traditional approaches to measuring cognitive performance require face-to-face administration of a battery of objective neuropsychological tests, which can be time- and labor-intensive. There are numerous clinical and research contexts in which in-person testing is undesirable or unfeasible, including clinical monitoring of older adults or individuals with disability for whom travel is challenging, and epidemiological studies of geographically dispersed participants. A telephone-based method for measuring cognition could conserve resources and improve efficiency. The objective of this study is to examine the feasibility and usefulness of the Brief Test of Adult Cognition by Telephone (BTACT) among individuals who are 1 and 2 years post-moderate-to-severe TBI. A total of 463 individuals participated in the study at Year 1 post-injury, and 386 participated at Year 2. The sample was mostly male (73%) and white (59%), with an average age of (mean ± standard deviation) 47.9 ± 20.9 years, and 73% experienced a duration of post-traumatic amnesia (PTA) greater than 7 days. A majority of participants were able to complete the BTACT subtests (61-69% and 56-64% for Years 1 and 2 respectively); score imputation for those unable to complete a test due to severity of cognitive impairment yields complete data for 74-79% of the sample. BTACT subtests showed expected changes between Years 1-2, and summary scores demonstrated expected associations with injury severity, employment status, and cognitive status as measured by the Functional Independence Measure. Results indicate it is feasible, efficient, and useful to measure cognition over the telephone among individuals with moderate-severe TBI

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele