Faculty Bibliography

Assistive technologies can enhance safety, independence, and quality of life for people with blindness and low vision. Despite their benefits, abandonment of these technologies remains widespread, and recent research on this issue is limited. In this Perspective article, we draw on both professional experiences and relevant scientific literature to examine adoption and abandonment in the context of new artificial intelligence-powered applications. We highlight risks arising from misaligned design, inconsistent industry support, and inadequate user training. We synthesize existing knowledge on factors that influence abandonment and propose three priorities to realign assistive technology development: participatory and transdisciplinary research, integrated technology ecosystems, and socially supported engagement. Taken collectively, these priorities ensure that emerging assistive technologies better align with the needs of people with blindness and low vision, promoting lasting adoption rather than abandonment.

PURPOSE/UNASSIGNED:To explore the phenotypic spectrum and genetic etiologies of Moebius Syndrome (MBS), a rare neurological disorder defined by congenital, nonprogressive facial weakness and limitations in ocular abduction. METHODS/UNASSIGNED:We applied strict diagnostic criteria and conducted clinical phenotyping of 149 individuals with MBS. Subsequently, we performed exome and/or genome sequencing on 67 of these individuals and 117 unaffected family members. RESULTS/UNASSIGNED:(HGNC:9968). CONCLUSION/UNASSIGNED:We did not identify a strong or unifying germline genetic etiology for MBS. Future studies may explore alternative causes, including environmental exposures, somatic variants, and/or complex inheritance patterns affecting brainstem and organ embryogenesis.

Chronic inflammatory demyelinating polyneuropathy (CIDP) following viral infections and influenza vaccination has been well documented. However, there have been no confirmed natural influenza A infections leading to development of CIDP. Therefore, we present the case of a 6-year-old male who developed CIDP following a confirmed influenza A infection. Initially presenting with typical flu-like symptoms, the patient experienced a gradual onset of gait instability and leg weakness approximately 1 month later. Despite initial improvement with intravenous immunoglobulin therapy following a diagnosis of Guillain-Barré syndrome, his symptoms relapsed, including lower extremity weakness, incontinence, and sensory loss. Electromyography confirmed a demyelinating polyneuropathy, leading to a diagnosis of CIDP.

Repetitive head impacts are common in contact and collision sports and are linked to structural brain changes and an elevated risk of neurodegenerative diseases such as Chronic Traumatic Encephalopathy. Identifying early in vivo structural markers remains challenging. Although diagnosis currently requires post-mortem confirmation, clinical symptoms, including cognitive impairment and behavioural changes, are reflected in the diagnosis of Traumatic Encephalopathy Syndrome. These symptoms align with dysfunction in key brain regions-amygdala, hippocampus and thalamus-which support memory, emotion and behaviour and commonly show tau pathology in Chronic Traumatic Encephalopathy. This study uses shape analysis to examine structural differences in these regions between former American football players and unexposed asymptomatic controls and evaluates the influence of age, head impact exposure and clinical diagnosis on brain structure. We analyzed brain morphology in former American football players (n = 163) and unexposed, asymptomatic controls (n = 53). Structural segmentation was performed with FreeSurfer 7.1, and the shape analysis pipeline was used to generate subregional reconstructions. Vertex-level morphometry, based on the logarithm of the Jacobian determinant and radial distance, quantified local surface area dilation and thickness. Group differences were examined with covariate-adjusted linear regression models contrasting football players and controls, as well as participants with and without a Traumatic Encephalopathy Syndrome diagnosis. Partial correlations examined the influence of age, age of first football exposure and cumulative head impact index metrics, including frequency, linear acceleration and rotational force. Models were adjusted accordingly for age, body mass index, education, race, imaging site, apolipoprotein

BACKGROUND/OBJECTIVES/UNASSIGNED:Primary progressive aphasia (PPA) is managed with speech-language therapy (SLT) to slow language decline. Pairing transcranial direct current stimulation (tDCS) with SLT can enhance its effects. However, further research is needed to confirm these findings and guide its clinical use. We evaluated the feasibility of providing an intervention combining tDCS with SLT as a home-based and remotely supervised intervention. METHODS/UNASSIGNED:Participants with confirmed PPA who had word-finding difficulties were recruited for an open-label observational study. The intervention consisted of 20 daily sessions over 1 month, each with 45-min of personalized word retrieval training. During the first 30-min, participants received tDCS over the left inferior frontal gyrus (anode F7, cathode O1) at 2.0 mA. Language measures were remotely administered at baseline and intervention end. RESULTS/UNASSIGNED:= 0.016) from baseline to intervention end. CONCLUSIONS/UNASSIGNED:Our case series demonstrates that home-based tDCS added to SLT is feasible for patients with PPA. However, larger controlled studies are required to confirm its effectiveness in slowing language decline and to fully determine the benefits of this approach. This approach not only facilitates broader access to participation but also enables the extended treatment necessary to evaluate its clinical benefits, moving this treatment closer to clinical availability as a telehealth treatment.

There are more than two million amputees in the USA, and almost all will experience phantom limb sensations (PLS), describing the missing limb as still present. They may also experience intense pain, known as phantom limb pain (PLP), a considerable factor in poor quality of life. In some upper extremity amputees and following brachial plexus avulsion injury (BPAI), hand digits can be detected and mapped to distinct facial skin areas, termed hand-to-face remapping. In this study, we analysed PLS following brachial plexus anaesthesia (BPA) administered prior to upper limb surgeries. Our 39 participants had planned shoulder, wrist or hand surgery. We sought to determine the time course for the emergence of phantom limb experiences after BPA up to the following 24 hours in participants with intact limbs. We also investigated whether there was hand-to-face remapping, suggesting potential cortical reorganization, or changes in proprioception before and after the induction of BPA. Twenty (54%) participants reported PLS immediately after the onset of BPA (T2), and 28 (72%) participants altered proprioception (AP) after surgery (T3). However, neither PLP nor hand mapping onto the face was reported or evoked. PLS were seen earlier than AP. We conclude that PLS arise rapidly after BPA-induced temporary deafferentation of the upper limb and might serve as a model for the permanent deafferentation experienced in individuals with a major upper limb amputation or BPAI. These results contribute to defining a time course for changes after BPA and increase our understanding of how phantom limb phenomena might arise following limb amputation or BPAI.

BACKGROUND/UNASSIGNED:Posttraumatic stress disorder (PTSD) symptoms are common in people with cocaine use disorder (CUD), and even sub-threshold PSTD symptoms result in worse treatment outcomes. Difficulties with reward functioning may drive this comorbidity. Impairments in reward functioning are prominent in both PTSD and CUD and contribute to development of substance use problems after trauma. There are three distinct reward processes that may be involved in the PTSD/CUD overlap: consummatory reward (ability to experience pleasure), motivational reward (willingness to exert effort for rewards), and reward learning (adapting behavior based on reward history). Here we test whether impairments in these reward functions account for the relationship between PTSD and CUD symptoms. METHODS/UNASSIGNED:This is a secondary analysis of data from a clinical trial (NCT02773212) that measured of PTSD symptoms, CUD severity, consummatory reward, motivational reward, and reward learning in 53 treatment-seeking people with CUD. RESULTS/UNASSIGNED:Greater PTSD symptoms related to (1) more severe CUD and (2) less ability to learn from reward; however, impaired reward learning did not significantly account for the overlap in PTSD and CUD symptom severity. CONCLUSIONS/UNASSIGNED:The observed relationship between PTSD and CUD symptoms was not accounted for by reduced ability to experience pleasure from rewards, reduced motivation for rewards, or reduced ability to learn from rewards. Thus, treatments that attempt to enhance reward functioning seem unlikely to address this complex comorbidity.

BACKGROUND:Despite fall-related injuries accounting for over two-thirds of older adult trauma injuries, fall-related injuries are more likely to be under-triaged. The Score for Trauma Triage in the Geriatric and Middle-Aged (STTGMA) is an injury risk-triage tool. This study aims to validate STTGMA's accuracy in predicting fall-related mortality among older adult trauma patients and compare its predictive accuracy with the Geriatric Trauma Outcome Score (GTOS) and the Revised Trauma Score (RTS). METHODS:Using a retrospective cohort design, we selected 6,458 older adult trauma patients (aged 65 years and older) from a single institutional trauma database (2017-2023). The primary outcome variable was in-hospital death, measured as a binary variable. The primary predictor variable was the STTGMA score, measured as a continuous variable and a four-level categorical variable. The secondary predictor variables were the GTOS and the RTS. We compared the predictive accuracy (95% confidence interval (CI)) of the STTGMA, GTOS, and RTS. We further assessed the relationships between the STTGMA risk categories and time-to-death and hospital length of stay using multivariable time-varying Cox proportional hazard analysis and multivariable quantile regression analysis, respectively. RESULTS:A total of 130 patients (2.0%) died during admission, and the median hospital length of stay was 2 days. STTGMA exhibited 84% (95% CI: 77.3-89.8) accuracy in predicting in-hospital fall-related mortality, while the GTOS and RTS both exhibited 71% diagnostic accuracies. Compared to the minimal risk category, older adult trauma patients classified as low, moderate, and high risks each had significantly longer hospital stays and adjusted mortality risks, in a dose-response pattern. CONCLUSION/CONCLUSIONS:STTGMA can accurately predict in-hospital mortality and risk-stratify the length of stay and the time to death among older adult trauma patients with fall-related injuries.

We present real-world data on patients switching from anti-CD20s to fumarates for various motivations in this retrospective observational study of 43 patients from three multiple sclerosis centers. Recurrent infections on anti-CD20s were the most common reason for switching to fumarates. Patients experienced limited disease activity on fumarates (83.7% were free from relapse and new MRI lesions), suggesting effectiveness was maintained. Of the 16.3% with disease activity on fumarates, 57.1% also had disease activity on anti-CD20s. Tolerability was the main reason for discontinuing fumarates. Future studies will provide additional insight into how to effectively and safely transition from anti-CD20s to fumarates.