Experiences of adults living with refractory epilepsy and their views and expectations on receiving results from whole genome sequencing.

INTRODUCTION: Researchers, clinicians and patients are turning to new innovations in research and clinical practice to further their knowledge in the genetic domain and improve diagnostics or treatment. However, with increased knowledge in genetics, societal issues may arise. Being conscious of these issues is crucial in order to implement standardized and efficient testing on a wider scale that is accessible to a greater number of individuals while simultaneously returning test results, including incidental findings, in a timely manner. METHODS: Within the framework of a genomics research project, we invited 20 participants who suffer from refractory epilepsy to provide insight on their personal experiences with epilepsy, as well as their thoughts on receiving Whole Genome Sequencing (WGS) results and with whom they would feel comfortable sharing these results with. RESULTS: All participants had their own unique experience with epilepsy, such as how they handled their diagnosis, their struggles following the diagnosis, the healthcare services they received, how they shared their diagnosis with others, and how they managed stigmatization from others. Most participants would be eager to know their WGS results, whether the results be related to epilepsy (n = 19), response to pharmaceutical drugs including AEDs (n = 16), comorbidities (n = 19) and incidental findings (n = 15). CONCLUSION: Our findings reinforce the need to improve access to genetic testing for epilepsy patients in clinical settings. Furthermore, while acquiring more genetic knowledge (i.e. WGS) about epilepsy can provide answers for the affected population, it also requires the simultaneous involvement of several medical disciplines, with greater emphasis on genetic and psychological counseling.

Assessing optimal colour and illumination to facilitate reading: an analysis of print size.

PURPOSE: This study examined how optimal colour/illumination conditions and the efficacy of the iPad, LuxIQ and Smart Bulb varied as a function of print size in younger, older and visually impaired adults. METHODS: Participants with visual impairments and simulated low vision (SLV) read the MNRead using the iPad, LuxIQ and Smart Bulb. RESULTS: In the impairment condition at 1.20 logMAR, the iPad (M = 9.49, 95% CI [3.18, 19.42]) and LuxIQ (M = 15.95, 95% CI [9.54, 24.86]) improved the reading speeds. At 0.80 logMAR (SLV), all devices improved reading speeds of older adults (iPad (M = 28.70, 95% CI [14.65, 42.51]); LuxIQ (M = 49.63, 95% CI [30.04, 69.68]); Smart Bulb (M = 23.11, 95% CI [3.33, 42.11])), but in younger adults only the LuxIQ (M = 13.04, 95% CI [3.21, 21.27]) did so. In the impairment condition, the iPad (M = 5.54, 95% CI [0.31, 12.13]) and LuxIQ (M = 13.90, 95% CI [7.88, 23.49]) improved reading speeds. In the SLV condition, age was a significant predictor of reading speed at 1.20 logMAR (F3,164  = 10.74, p < 0.001, Adj. R2  = 0.16). At 0.80 logMAR, age and luminance, but not colour, were significant predictors (F3,164  = 52.52, p < 0.001, Adj. R2  = 0.49). In the impairment condition, both age and lux were significant predictors of reading speed at 1.20 (F3,85  = 7.14, p < 0.001, Adj. R2  = 0.20) and 0.80 logMAR (F3,85  = 7.97, p < 0.001, Adj. R2  = 0.22), but colour was not. CONCLUSIONS: Light source effectiveness and optimal colour/illumination vary as a function of print size. It appears that print size is the most important factor for improving reading speed. As print size decreases, luminance becomes crucial, and only at the smallest print sizes does the effect of colour become useful.

Validation of the International Reading Speed Texts in a Sample of Older (60+) Canadian Adults.

SIGNIFICANCE: On average, older adults (60+) with normal vision read the International Reading Speed Texts (IReST) 37.8 words per minute slower than the standardized values provided by the IReST manufacturer. When assessing reading speed in older adults, clinicians should bear in mind that the IReST norms do not account for these age-related differences. PURPOSE: The purpose of this study was to validate the IReST in an English-speaking Canadian sample of older adults (60+). METHODS: Canadian English-speaking older adults (n = 25) read all 10 IReST aloud using the same protocol from the original IReST validation study. RESULTS: There were significant differences between the older adult sample and the published IReST values for each text (mean difference, -37.84; 95% confidence interval, -41.34 to -34.34). CONCLUSIONS: Reading speeds of older (60+) Canadian adults fell outside of the standardized values of the English language IReST. Researchers/clinicians who wish to assess older adults' reading speed using the IReST ought to take this discrepancy into account.

Assessing optimal colour and illumination to facilitate reading.

PURPOSE: This study examined the effectiveness of the LuxIQ, the Apple iPad and a smart bulb in assessing optimal colour and illumination to facilitate reading in younger, older and visually impaired adults. METHODS: Participants read standardised texts at baseline (normal lighting/no device), then using the Apple iPad, LuxIQ and smart bulb, with their normal vision (20/20 condition) and using a simulated reduction in visual acuity/contrast sensitivity (20/80 condition). Visually impaired participants followed the same procedure used in the 20/80 condition. RESULTS: There was a significant interaction between condition and device in younger, F(1.5, 43.51) = 30.41, p < 0.001, ω2  = 0.34 and older, F(1.5, 4.51) = 4.51, p = 0.03, ω2  = 0.05 adults with normal vision, and there was a significant effect of device, F(2, 58) = 5.95, p = 0.004, ω2  = 0.12 in visually impaired adults. In the 20/20 condition, age and colour predicted reading speed, F(3, 176) = 36.25, p < 0.001, Adj. R2  = 0.37, whereas age, lighting and colour predicted reading speed, F(3, 176) = 36.25, p < 0.001, Adj. R2  = 0.37 in the 20/80 condition. In the visual impairment condition, lighting, colour and impairment severity predicted reading speed, F(3, 85) = 10.10, p < 0.001, Adj. R2  = 0.24. CONCLUSIONS: The clinical implications of this study are that reading speeds improve in individuals with low vision under improved lighting conditions, specifically, with higher levels of luminance and colour temperature. The effectiveness of the devices varied across groups; however, the LuxIQ was the only device to improve reading speeds from baseline in older adults with visual impairments.