Faculty Bibliography

BACKGROUND:High heterogeneity in the CFTR gene mutations disturbs the molecular diagnosis of cystic fibrosis (CF). In order to improve the diagnosis of CF in our country, the present study aims to define a panel of common CFTR gene mutations by sequencing 27 exons of the gene in Ecuadorian Cystic Fibrosis patients. METHODS:Forty-eight Ecuadorian individuals with suspected/confirmed CF diagnosis were included. Twenty-seven exons of CFTR gene were sequenced to find sequence variations. Prevalence of pathogenic variations were determined and compared with other countries' data. RESULTS:We found 70 sequence variations. Eight of these are CF-causing mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K. Also this study is the second report of p.H609R in Ecuadorian population. Mutation prevalence differences between Ecuadorian population and other Latin America countries were found. CONCLUSION:The panel of mutations suggested as an initial screening for the Ecuadorian population with cystic fibrosis should contain the mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K.

Background: Fatigue is known for being one of the most debilitating and common symptoms of multiple sclerosis (MS). Despite its prevalence, though, reliable treatment options are lacking. Transcranial direct current stimulation (tDCS) is a non-invasive neuromodulation treatment that uses low amperage (2.0 mA) electric current to stimulate cortical regions. tDCS has been shown to improve fatigue in MS following consecutive daily treatment sessions. We have recently developed and shown the feasibility of a remotely supervised tDCS (RS-tDCS) protocol to ease the burden of daily sessions and allow patients to complete the treatment at home. We aim to evaluate the efficacy of RS-tDCS in fatigue management for patients with MS. Methods: We enrolled n = 31 patients with MS (all subtypes) into a randomly controlled, double-blind trial; n = 27 patients provided data for analysis with n = 15 randomized to the active group and n = 12 in the placebo or "sham" group. Participants came to the clinic for baseline and follow-up measures including self-report forms on fatigue. At baseline they were also trained in operating the tDCS headset. Participants then took the device home where they complete 20 sessions of tDCS (20 minutes, 2.0 mA, dorsolateral prefrontal cortex montage, left anodal) paired with cognitive training. Results: Our primary outcome measure was the Patient-Reported Outcomes Measurement Information System (PROMIS) Fatigue scale. When comparing change in PROMIS Fatigue between the active and sham tDCS groups we found that active tDCS participants had significantly greater reductions in fatigue (mean change in Active =-5.6 +/- 8.9 vs. Sham = 0.9 +/- 1.9, p = 0.02 conditions). We analyzed the within-subject effect tDCS had and found a significant, beneficial effect in the active group (pre-treatment mean = 26.6 +/- 9.2, post-treatment mean = 21.0 +/- 6.4, p = 0.04) and no such effect in the sham group (pre-treatment mean = 22.9 +/- 7.9, post-treatment mean = 23.8 +/- 8.4, p = 0.15). Finally, we calculated Cohen's d effect size (Active d =-0.71, Sham d = 0.11). Conclusions: These data suggest that RS-tDCS provides significant reduction in MS-related fatigue

Research Objectives: To investigate the associations between the SCAT3 Cognitive factor with neuropsychological performance measures. Design: Retrospective study of adult patients diagnosed with concussions. Setting: Outpatient concussion center in a major urban medical center. Participants: Participants were 89 patients diagnosed with uncomplicated mild traumatic brain injuries/concussions ages 18 years or older referred for neuropsychological evaluation. Interventions: Neuropsychological assessment. Main Outcome Measures: Sport Concussion Assessment Tool (SCAT3), Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV) Digit Span Backward Subscale, WAIS-IV Coding, Delis-Kaplan Executive Function System Verbal Fluency, California Verbal Learning Test II (CVLT-II) Long Delayed Free Recall, Stroop Color and Word Interference score, Trails Making Test B (TMTB). Results: Separated hierarchical multiple regression analyses were computed. Results indicated that a higher SCAT3 cognitive measure was predictive of lower performance on Digit Span Backward Scaled Score (T= -.32, R2 =.23, p=.005), Coding (T= -.31, R2 =.37, p=.004), CVLT-II Long Delayed Recall (T= -.22, R2 =.36, p=.030), and TMTB (T= -.41, R2 =.27, p < .001) after controlling for years of education, gender, age, numbers of prior concussions, and loss of consciousness. Conclusions: Neuropsychological measures examining concentration, visuomotor processing speed, memory, and set shifting are associated with the SCAT3 Cognitive Factor score. The SCAT3 may be a useful tool to identify individuals who may benefit from follow-up and management of cognitive symptoms. While the SCAT3 was designed for athletes, it may be helpful in the general population

The remotely supervised tDCS (RS-tDCS) protocol enables participation from home through guided and monitored self-administration of tDCS treatment while maintaining clinical standards. The current consensus regarding the efficacy of tDCS is that multiple treatment sessions are needed to observe targeted behavioral reductions in symptom burden. However, the requirement for patients to travel to clinic daily for stimulation sessions presents a major obstacle for potential participants, due to work or family obligations or limited ability to travel. This study presents a protocol that directly overcomes these obstacles by eliminating the need to travel to clinic for daily sessions. This is an updated protocol for remotely supervised self-administration of tDCS for daily treatment sessions paired with a program of computer-based cognitive training for use in clinical trials. Participants only need to attend clinic twice, for a baseline and study-end visit. At baseline, participants are trained and provided with a study stimulation device, and a small laptop computer. Participants then complete the remainder of their stimulation sessions at home while they are monitored via videoconferencing software. Participants complete computerized cognitive remediation during stimulation sessions, which may serve a therapeutic role or as a "placeholder" for other computer-based activity. Computers are enabled for real-time monitoring and remote control by study staff. Outcome measures that assess feasibility and tolerance are administered remotely with the aid of visual analogue scales that are presented onscreen. Following completion of all RS-tDCS sessions, participants return to clinic for a study end visit in which all study equipment is returned. Results support the safety, feasibility, and scalability of the RS-tDCS protocol for use in clinical trials. Across 46 patients, 748 RS-tDCS sessions have been completed. This protocol serves as a model for use in future clinical trials involving tDCS.

This article consists of a Letter to the Editor regarding Post-traumatic headache: the use of the sport concussion assessment tool (SCAT-3) as a predictor of post-concussion recovery, recently published in The Journal of Headache and Pain, along with a response from the original authors.

Neuropsychology has fallen reliant on outdated and labor intensive methods of data collection that are slow, highly inefficient, and expensive, and provide relatively data-poor estimates of human behavior despite rapid technological advance in most other fields of medicine. Here we present a brief historical overview of current testing practices in an effort to frame the current crisis, followed by an overview of different settings in which technology can and should be integrated. Potential benefits of laboratory based assessments, remote assessments, as well as passive and high-frequency data collection tools rooted in technology are discussed, along with several relevant examples and how these technologies might be deployed. Broader issues of data security and privacy are discussed, as well as additional considerations to be addressed within each setting. Some of the historical barriers to adoption of technology are also presented, along with a brief discussion of the remaining uncertainties. While by no means intended as a comprehensive review or prescriptive roadmap, our goal is to show that there are a tremendous number of advantages to technologically driven data collection methods, and that technology should be embraced by the field. Our predictions are that the comprehensive assessments of the future will likely entail a combination of lab-based assessments, remote assessments, and passive data capture, and leading the development of these efforts will cement the role of neuropsychology at the forefront of cognitive and behavioral science.