Waveform type evaluation in congenital nystagmus

Congenital nystagmus is an ocular-motor disorder characterised by involuntary, conjugated and bilateral to and fro ocular oscillations. In this study a method to recognise automatically jerk waveform inside a congenital nystagmus recording and to compute foveation time and foveation position variability is presented. The recordings were performed with subjects looking at visual targets, presented in nine eye gaze positions; data were segmented into blocks corresponding to each gaze position. The nystagmus cycles were identified searching for local minima and maxima (SpEp sequence) in intervals centred on each slope change of the eye position signal (position criterion). The SpEp sequence was then refined using an adaptive threshold applied to the eye velocity signal; the outcome is a robust detection of each slow phase start point, fundamental to accurately compute some nystagmus parameters. A total of 1206 slow phases was used to compute the specificity in waveform recognition applying only the position criterion or adding the adaptive threshold; results showed an increase in negative predictive value of 25.1% using both features. The duration of each foveation window was measured on raw data or using an interpolating function of the congenital nystagmus slow phases; foveation time estimation less sensitive to noise was obtained in the second case. © 2010.

Slow-phase onset influence on waveform identification and foveation time measure in congenital nystagmus

Congenital nystagmus (CN) is an ocular-motor disorder characterised by involuntary, conjugated ocular oscillations and its pathogenesis is still under investigation. This kind of nystagmus is termed congenital (or infantile) since it could be present at birth or it can arise in the first months of life. Most of CN patients show a considerable decrease of their visual acuity: image fixation on the retina is disturbed by nystagmus continuous oscillations, mainly horizontal. However, the image of a given target can still be stable during short periods in which eye velocity slows down while the target image is placed onto the fovea (called foveation intervals). To quantify the extent of nystagmus, eye movement recording are routinely employed, allowing physicians to extract and analyse nystagmus main features such as waveform shape, amplitude and frequency. Using eye movement recording, it is also possible to compute estimated visual acuity predictors: analytical functions which estimates expected visual acuity using signal features such as foveation time and foveation position variability. Use of those functions extend the information from typical visual acuity measurement (e.g. Landolt C test) and could be a support for therapy planning or monitoring. This study focuses on detection of CN patients' waveform type and on foveation time measure. Specifically, it proposes a robust method to recognize cycles corresponding to the specific CN waveform in the eye movement pattern and, for those cycles, evaluate the exact signal tracts in which a subject foveates. About 40 eyemovement recordings, either infrared-oculographic or electrooculographic, were acquired from 16 CN subjects. Results suggest that the use of an adaptive threshold applied to the eye velocity signal could improve the estimation of slow phase start point. This can enhance foveation time computing and reduce influence of repositioning saccades and data noise on the waveform type identification.

Analysis of foveation sequences in congenital nystagmus

Congenital nystagmus (CN) is an ocular-motor disorder that appears at birth or during the first few months of life; it is characterised by involuntary, conjugated, bilateral to and fro ocular oscillations. Pathogenesis of congenital nystagmus is still unknown. Eye movement recording allow to extract and analyse nystagmus main features such as shape, amplitude and frequency; depending on the morphology of the oscillations nystagmus can be classified in different categories (pendular, jerk, horizontal unidirectional, bidirectional). In general, CN patient show a considerable decrease of the visual acuity: image fixation on the retina is disturbed by nystagmus continuous oscillations; however, image stabilisation is still achieved during the short foveation periods in which eye velocity slows down while the target image is placed onto the fovea. Visual acuity was found to be mainly dependent on foveation periods duration, but cycle-to-cycle foveation repeatability and reduction of retinal image velocities also contribute in increasing visual acuity. This study concentrate on cycle-to-cycle image position variation onto fovea, trying to characterise the sequences of foveation positions. Eye-movement (infrared oculographic or electro oculographic) recordings, relative to different gaze positions and belonging to more than 30 CN patients, were analysed. Preliminary results suggest that sequences of foveations show a cyclic pattern with a dominant frequency (around 0.3 Hz on average) much lower than that of the nystagmus (about 3.3 Hz on average). Sequences of foveations reveals an horizontal ocular swing of more than 2 degree on average, which can explain the low visual acuity of the CN patient. Current CN therapies, pharmacological treatment or surgery of the ocular muscles, mainly aim to increase the patient's visual acuity. Hence, it is fundamental to have an objective parameter (expected visual acuity) for therapy planning. The information about sequences of foveations can improve estimation of patient visual acuity. © 2008 Springer-Verlag.

Spline interpolation to evaluate foveation parameters in congenital nystagmus recordings

Infantile Nystagmus Syndrome, or Congenital Nystagmus, is an ocular-motor disorder characterized by involuntary, conjugated and bilateral to and fro ocular oscillations. Good visual acuity in congenital nystagmus can be achieved during the foveation periods in which eye velocity slows down while the target image crosses the fovea. Visual acuity was found to be mainly dependent on the duration of the foveation periods. In this work a new approach is proposed for estimation of foveation parameters: a cubic spline interpolation of the nystagmus recording before localizing the start point of foveation window and to estimate its duration. The performances of the proposed algorithm were assessed in comparison with a previously developed algorithm, used here as gold standard. The obtained results suggest that the spline interpolation could be a useful tool to filter the eye movement recordings before applying an algorithm to estimate the foveation window parameters. © 2013 IEEE.

Eye movement analysis in congenital nystagmus:concise parameters estimation

Along with other diseases that can affect binocular vision, reducing the visual quality of a subject, Congenital Nystagmus (CN) is of peculiar interest. CN is an ocular-motor disorder characterized by involuntary, conjugated ocular oscillations and, while identified more than forty years ago, its pathogenesis is still under investigation. This kind of nystagmus is termed congenital (or infantile) since it could be present at birth or it can arise in the first months of life. The majority of CN patients show a considerable decrease of their visual acuity: image fixation on the retina is disturbed by nystagmus continuous oscillations, mainly horizontal. However, the image of a given target can still be stable during short periods in which eye velocity slows down while the target image is placed onto the fovea (called foveation intervals). To quantify the extent of nystagmus, eye movement recordings are routinely employed, allowing physicians to extract and analyze nystagmus main features such as waveform shape, amplitude and frequency. Use of eye movement recording, opportunely processed, allows computing "estimated visual acuity" predictors, which are analytical functions that estimate expected visual acuity using signal features such as foveation time and foveation position variability. Hence, it is fundamental to develop robust and accurate methods to measure both those parameters in order to obtain reliable values from the predictors. In this chapter the current methods to record eye movements in subjects with congenital nystagmus will be discussed and the present techniques to accurately compute foveation time and eye position will be presented. This study aims to disclose new methodologies in congenital nystagmus eye movements analysis, in order to identify nystagmus cycles and to evaluate foveation time, reducing the influence of repositioning saccades and data noise on the critical parameters of the estimation functions. Use of those functions extends the information acquired with typical visual acuity measurement (e.g., Landolt C test) and could be a support for treatment planning or therapy monitoring. © 2010 by Nova Science Publishers, Inc. All rights reserved.

Foveation time measure in Congenital Nystagmus through second order approximation of the slow phases

Congenital Nystagmus (CN) is an ocular-motor disorder characterised by involuntary, conjugated ocular oscillations, and its pathogenesis is still unknown. The pathology is de fined as "congenital" from the onset time of its arise which could be at birth or in the first months of life. Visual acuity in CN subjects is often diminished due to nystagmus continuous oscillations, mainly on the horizontal plane, which disturb image fixation on the retina. However, during short periods in which eye velocity slows down while the target image is placed onto the fovea (called foveation intervals) the image of a given target can still be stable, allowing a subject to reach a higher visual acuity. In CN subjects, visual acuity is usually assessed both using typical measurement techniques (e.g. Landolt C test) and with eye movement recording in different gaze positions. The offline study of eye movement recordings allows physicians to analyse nystagmus main features such as waveform shape, amplitude and frequency and to compute estimated visual acuity predictors. This analytical functions estimates the best corrected visual acuity using foveation time and foveation position variability, hence a reliable estimation of this two parameters is a fundamental factor in assessing visual acuity. This work aims to enhance the foveation time estimation in CN eye movement recording, computing a second order approximation of the slow phase components of nystag-mus oscillations. About 19 infraredoculographic eye-movement recordings from 10 CN subjects were acquired and the visual acuity assessed with an acuity predictor was compared to the one measured in primary position. Results suggest that visual acuity measurements based on foveation time estimation obtained from interpolated data are closer to value obtained during Landolt C tests. © 2010 IEEE.

Characterisation of baseline oscillation in congenital nystagmus eye movement recordings

Congenital nystagmus is an ocular-motor disorder that develops in the first few months of life; its pathogenesis is still unknown. Patients affected by congenital nystagmus show continuous, involuntary, rhythmical oscillations of the eyes. Monitoring eye movements, nystagmus main features such as shape, amplitude and frequency, can be extracted and analysed. Previous studies highlighted, in some cases, a much slower and smaller oscillation, which appears added up to the ordinary nystagmus waveform. This sort of baseline oscillation, or slow nystagmus, hinder precise cycle-to-cycle image placement onto the fovea. Such variability of the position may reduce patient visual acuity. This study aims to analyse more extensively eye movements recording including the baseline oscillation and investigate possible relationships between these slow oscillations and nystagmus. Almost 100 eye movement recordings (either infrared-oculographic or electrooculographic), relative to different gaze positions, belonging to 32 congenital nystagmus patients were analysed. The baseline oscillation was assumed sinusoidal; its amplitude and frequency were computed and compared with those of the nystagmus by means of a linear regression analysis. The results showed that baseline oscillations were characterised by an average frequency of 0.36 Hz (SD 0.11 Hz) and an average amplitude of 2.1° (SD 1.6°). It also resulted in a considerable correlation (R2 scored 0.78) between nystagmus amplitude and baseline oscillation amplitude; the latter, on average, resulted to be about one-half of the correspondent nystagmus amplitude. © 2009 Elsevier Ltd. All rights reserved.

Detection of foveation windows and analysis of foveation sequences in congenital nystagmus

Congenital nystagmus (CN) is an ocular-motor disorder characterised by involuntary, conjugated ocular oscillations, that can arise since the first months of life. Pathogenesis of congenital nystagmus is still under investigation. In general, CN patients show a considerable decrease of their visual acuity: image fixation on the retina is disturbed by nystagmus continuous oscillations, mainly horizontal. However, image stabilisation is still achieved during the short periods in which eye velocity slows down while the target image is placed onto the fovea (called foveation intervals). To quantify the extent of nystagmus, eye movement recording are routinely employed, allowing physicians to extract and analyse nystagmus main features such as shape, amplitude and frequency. Using eye movement recording, it is also possible to compute estimated visual acuity predictors: analytical functions which estimates expected visual acuity using signal features such as foveation time and foveation position variability. Use of those functions add information to typical visual acuity measurement (e.g. Landolt C test) and could be a support for therapy planning or monitoring. This study focus on robust detection of CN patients' foveations. Specifically, it proposes a method to recognize the exact signal tracts in which a subject foveates, This paper also analyses foveation sequences. About 50 eyemovement recordings, either infrared-oculographic or electrooculographic, from different CN subjects were acquired. Results suggest that an exponential interpolation for the slow phases of nystagmus could improve foveation time computing and reduce influence of breaking saccades and data noise. Moreover a concise description of foveation sequence variability can be achieved using non-fitting splines. © 2009 Springer Berlin Heidelberg.

Congenital prosopagnosia in a child:neuropsychological assessment, eye movement recordings and training

Here we report the assessment and treatment of a 6-year-old boy (L.G.) who was referred to us for congenital prosopagnosia (CP). We investigated his performance using a test battery and eye movement recordings pre- and post-training. L.G. showed deficits in recognising relatives and learning new faces, and misrecognition of unfamiliar people. Eye movement recordings showed that L.G. focused on the lower part of stimuli in naming tasks based on familiar or unfamiliar incomplete or complete faces. The training focused on improving his ability to explore internal features of faces, to discriminate specific facial features of familiar and unfamiliar faces, and to provide his family with strategies to use in the future. At the end of the training programme L.G. no longer failed to recognise close and distant relatives and classmates and did not falsely recognise unknown people.

Adult congenital heart disease : long-term survival, arrhytmias, and emerging therapy

Thèse numérisée par la Direction des bibliothèques de l'Université de Montréal.

Extra-cardiac manifestations of adult congenital heart disease.

Advancement in correction or palliation of congenital cardiac lesions has greatly improved the lifespan of congenital heart disease patients, resulting in a rapidly growing adult congenital heart disease (ACHD) population. As this group has increased in number and age, emerging science has highlighted the systemic nature of ACHD. Providers caring for these patients are tasked with long-term management of multiple neurologic, pulmonary, hepatic, renal, and endocrine manifestations that arise as syndromic associations with congenital heart defects or as sequelae of primary structural or hemodynamic abnormalities. In this review, we outline the current understanding and recent research into these extra-cardiac manifestations.

Cardiopulmonary bypass down-regulates NOD signaling and inflammatory response in children with congenital heart disease

In the present study, we aimed to examine the impact of cardiopulmonary bypass (CPB) on expression and function of NOD1 and NOD2 in children with congenital heart disease (CHD), in an attempt to clarify whether NOD1 and NOD2 signaling is involved in the modulation of host innate immunity against postoperative infection in pediatric CHD patients. Peripheral blood samples were collected from pediatric CHD patients at five different time points: before CPB, immediately after CPB, and 1, 3, and 7 days after CPB. Real-time PCR, Western blot, and ELISA were performed to measure the expression of NOD1 and NOD2, their downstream signaling pathways, and inflammatory cytokines at various time points. Proinflammatorycytokine IL-6 and TNF-α levels in response to stimulation with either the NOD1 agonist Tri-DAP or the NOD2 agonist MDP were significantly reduced after CPB compared with those before CPB, which is consistent with a suppressed inflammatory response postoperatively. The expression of phosphorylated RIP2 and activation of the downstream signaling pathways NF-κB p65 and MAPK p38 upon Tri-DAP or MDP stimulation in PBMCs were substantially inhibited after CPB. The mRNA level of NOD1 and protein levels of NOD1 and NOD2 were also markedly decreased after CPB. Our results demonstrated that NOD-mediated signaling pathways were substantially inhibited after CPB, which correlates with the suppressed inflammatory response and may account, at least in part, for the increased risk of postoperative infection in pediatric CHD patients.

Adult congenital heart disease : long-term survival, arrhytmias, and emerging therapy

Thèse numérisée par la Direction des bibliothèques de l'Université de Montréal.