scholarly journals Cognitive Assessment in GNAO1 Neurodevelopmental Disorder Using an Eye Tracking System

2021 ◽  
Vol 10 (16) ◽  
pp. 3541
Author(s):  
Federica Graziola ◽  
Giacomo Garone ◽  
Melissa Grasso ◽  
Alessandro Capuano

GNAO1 gene mutations are associated with a neurodevelopmental disorder characterized by developmental delay, epilepsy, and movement disorder. Eye tracking and eye movement analysis are an intriguing method to assess cognitive and language function and, to the best of our knowledge, it has never been tested in a standardized way in GNAO1. GNAO1 children are usually wheelchair-bound and with numerous motor constrains, including dystonic movements and postures, heterotropia, and hypotonia, making the cognitive assessment arduous. These contribute to the burden and disability, with a high level of frustration of caregivers and patients. We have herein demonstrated that, through an eye tracking system, six GNAO1 patients evaluated showed variable degrees of communicative intent through intentionally directed gaze. Moreover, three of these were able to complete a cognitive evaluation, and showed normal fluid intelligence and lexical comprehension. In conclusion, in GNAO1-related disorders, the degree of cognitive development is underestimated; eye tracking technologies may help in overcome these boundaries.

2020 ◽  
Author(s):  
Benedetta Franceschiello ◽  
Lorenzo Di Sopra ◽  
Astrid Minier ◽  
Silvio Ionta ◽  
David Zeugin ◽  
...  

AbstractEye motion is a major confound for magnetic resonance imaging (MRI) in neuroscience or ophthalmology. Currently, solutions toward eye stabilisation include participants fixating or administration of paralytics/anaesthetics. We developed a novel MRI protocol for acquiring 3-dimensional images while the eye freely moves. Eye motion serves as the basis for image reconstruction, rather than an impediment. We fully reconstruct videos of the moving eye and head. We quantitatively validate data quality with millimetre resolution in two ways for individual participants. First, eye position based on reconstructed images correlated with simultaneous eye-tracking. Second, the reconstructed images preserve anatomical properties; the eye’s axial length measured from MRI images matched that obtained with ocular biometry. The technique operates on a standard clinical setup, without necessitating specialized hardware, facilitating wide deployment. In clinical practice, we anticipate that this may help reduce burden on both patients and infrastructure, by integrating multiple varieties of assessments into a single comprehensive session. More generally, our protocol is a harbinger for removing the necessity of fixation, thereby opening new opportunities for ethologically-valid, naturalistic paradigms, the inclusion of populations typically unable to stably fixate, and increased translational research such as in awake animals whose eye movements constitute an accessible behavioural readout.Author contributionsB.F., L.D.S., M.S., and M.M.M. conceptualised the problem. B.F. and L.D.S. developed, implemented, and tested the protocol. A.M. provided optometry assessments and assisted with eye movement analysis. S.I., D.Z., and M.P.N. assisted with installation of the eye-tracking system within the MRI scanner. J.A.M.B., J.J. and J.Y. contributed with the MRI sequences and compressed sensing framework. B.F., L.D.S. and M.M.M. drafted the manuscript, and all authors contributed to internal review.Competing interestsB.F., L.D.S., J.A.M.B., J.Y., M.S., and M.M.M. declare the following competing financial interest: a patent application for the protocol described in this manuscript has been filed (patent application: EP19160832). A.M., S.I., D.Z., M.P.N. and J.J. declare no competing financial interests.


Author(s):  
Paul A. Wetzel ◽  
Gretchen Krueger-Anderson ◽  
Christine Poprik ◽  
Peter Bascom

2010 ◽  
Vol 36 (8) ◽  
pp. 1051-1061 ◽  
Author(s):  
Chuang ZHANG ◽  
Jian-Nan CHI ◽  
Zhao-Hui ZHANG ◽  
Zhi-Liang WANG

2009 ◽  
Vol 54 (1) ◽  
pp. 103-108 ◽  
Author(s):  
Hassan Safi ◽  
Robert D. Fleischmann ◽  
Scott N. Peterson ◽  
Marcus B. Jones ◽  
Behnam Jarrahi ◽  
...  

ABSTRACT Mutations within codon 306 of the Mycobacterium tuberculosis embB gene modestly increase ethambutol (EMB) MICs. To identify other causes of EMB resistance and to identify causes of high-level resistance, we generated EMB-resistant M. tuberculosis isolates in vitro and performed allelic exchange studies of embB codon 406 (embB406) and embB497 mutations. In vitro selection produced mutations already identified clinically in embB306, embB397, embB497, embB1024, and embC13, which result in EMB MICs of 8 or 14 μg/ml, 5 μg/ml, 12 μg/ml, 3 μg/ml, and 4 μg/ml, respectively, and mutations at embB320, embB324, and embB445, which have not been identified in clinical M. tuberculosis isolates and which result in EMB MICs of 8 μg/ml, 8 μg/ml, and 2 to 8 μg/ml, respectively. To definitively identify the effect of the common clinical embB497 and embB406 mutations on EMB susceptibility, we created a series of isogenic mutants, exchanging the wild-type embB497 CAG codon in EMB-susceptible M. tuberculosis strain 210 for the embB497 CGG codon and the wild-type embB406 GGC codon for either the embB406 GCC, embB406 TGC, embB406 TCC, or embB406 GAC codon. These new mutants showed 6-fold and 3- to 3.5-fold increases in the EMB MICs, respectively. In contrast to the embB306 mutants, the isogenic embB497 and embB406 mutants did not have preferential growth in the presence of isoniazid or rifampin (rifampicin) at their MICs. These results demonstrate that individual embCAB mutations confer low to moderate increases in EMB MICs. Discrepancies between the EMB MICs of laboratory mutants and clinical M. tuberculosis strains with identical mutations suggest that clinical EMB resistance is multigenic and that high-level EMB resistance requires mutations in currently unknown loci.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Su-Young Kim ◽  
Dae Hun Kim ◽  
Seong Mi Moon ◽  
Ju Yeun Song ◽  
Hee Jae Huh ◽  
...  

AbstractWe evaluated the association between 16S rRNA gene (rrs) mutations and susceptibility in clinical isolates of amikacin-resistant nontuberculous mycobacteria (NTM) in NTM-pulmonary disease (PD) patients. Susceptibility was retested for 134 amikacin-resistant isolates (minimum inhibitory concentration [MIC] ≥ 64 µg/ml) from 86 patients. Amikacin resistance was reconfirmed in 102 NTM isolates from 62 patients with either Mycobacterium avium complex-PD (MAC-PD) (n = 54) or M. abscessus-PD (n = 8). MICs and rrs mutations were evaluated for 318 single colonies from these isolates. For the 54 MAC-PD patients, rrs mutations were present in 34 isolates (63%), comprising all 31 isolates with amikacin MICs ≥ 128 µg/ml, but only three of 23 isolates with an MIC = 64 µg/ml. For the eight M. abscessus-PD patients, all amikacin-resistant (MIC ≥ 64 µg/ml) isolates had rrs mutations. In amikacin-resistant isolates, the A1408G mutation (n = 29) was most common. Two novel mutations, C1496T and T1498A, were also identified. The culture conversion rate did not differ by amikacin MIC. Overall, all high-level and 13% (3/23) of low-level amikacin-resistant MAC isolates had rrs mutations whereas mutations were present in all amikacin-resistant M. abscessus isolates. These findings are valuable for managing MAC- and M. abscessus-PD and suggest the importance of phenotypic and genotypic susceptibility testing.


Author(s):  
Federico Cassioli ◽  
Laura Angioletti ◽  
Michela Balconi

AbstractHuman–computer interaction (HCI) is particularly interesting because full-immersive technology may be approached differently by users, depending on the complexity of the interaction, users’ personality traits, and their motivational systems inclination. Therefore, this study investigated the relationship between psychological factors and attention towards specific tech-interactions in a smart home system (SHS). The relation between personal psychological traits and eye-tracking metrics is investigated through self-report measures [locus of control (LoC), user experience (UX), behavioral inhibition system (BIS) and behavioral activation system (BAS)] and a wearable and wireless near-infrared illumination based eye-tracking system applied to an Italian sample (n = 19). Participants were asked to activate and interact with five different tech-interaction areas with different levels of complexity (entrance, kitchen, living room, bathroom, and bedroom) in a smart home system (SHS), while their eye-gaze behavior was recorded. Data showed significant differences between a simpler interaction (entrance) and a more complex one (living room), in terms of number of fixation. Moreover, slower time to first fixation in a multifaceted interaction (bathroom), compared to simpler ones (kitchen and living room) was found. Additionally, in two interaction conditions (living room and bathroom), negative correlations were found between external LoC and fixation count, and between BAS reward responsiveness scores and fixation duration. Findings led to the identification of a two-way process, where both the complexity of the tech-interaction and subjects’ personality traits are important impacting factors on the user’s visual exploration behavior. This research contributes to understand the user responsiveness adding first insights that may help to create more human-centered technology.


Foods ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 49
Author(s):  
Hae Jin Park ◽  
Su Jin Choi ◽  
Yuri Kim ◽  
Mi Sook Cho ◽  
Yu-Ri Kim ◽  
...  

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a lack of social communication and restrictive, repetitive behaviors or interests. This study aimed to examine the mealtime behaviors and food preferences of students with ASD. An online questionnaire on mealtime behavior and food preferences of ASD students was conducted by caregivers including parents, and the average age of ASD students was 14.1 ± 6.1. The analysis of mealtime behavior resulted in classification into three clusters: cluster 1, the “low-level problematic mealtime behavior group”; cluster 2, the “mid-level problematic mealtime behavior group”; and cluster 3, the “high-level problematic mealtime behavior group”. Cluster 1 included older students than other clusters and their own specific dietary rituals. Meanwhile, cluster 3 included younger students than other clusters, high-level problematic mealtime behavior, and a low preference for food. In particular, there were significant differences in age and food preference for each subdivided ASD group according to their eating behaviors. Therefore, the content and method of nutrition education for ASD students’ needs a detailed approach according to the characteristics of each group.


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