Abnormal Gaze Research Articles

Free viewing exploration in schizophrenia: Review of evidence from laboratory settings to natural environment

Several studies have investigated visual processing impairment in schizophrenia. The literature on visual exploration has described restricted scanning in schizophrenia patients. This gaze behavior is characterized by increased fixation duration, a reduced scan path length and avoidance of salient features of the face with emotional content. The aim of this paper is to give an insight on the latest update on scan path deficit. Abnormal gaze exploration was replicated in various visual stimuli. This review describes gaze patterns with stimuli that imply minimal to high cognitive process: figures, objects, faces, and scenes. Interestingly, schizophrenia patients have shown cognitive flexibility by modulating gaze scanning when they are involved in an active assignment. We will also consider scanning abnormalities in real-life environment and discuss the potential therapeutic use of eye tracking in schizophrenia. The therapeutic application of eye tracking in schizophrenia is a young emerging field in psychiatry research. The recent remediation program is based on the reorientation of visual attention on the salient features of faces. For now, this program has shown encouraging results. Further studies are needed to explore behavior in real-world situations to complement laboratory measurements to move toward a full understanding of the mechanisms underlying atypical scanning in patients with schizophrenia.

Abstract TP237: Can We Improve Clinical Detection of Right Hemisphere Large Vessel Occlusion?

Introduction: The Emergency Medical Stroke Assessment (EMSA) is a six point stroke severity scale with one point each for gaze preference, facial droop, arm drift, leg drift, abnormal naming, and abnormal repetition that was developed to help emergency medical services (EMS) providers identify acute ischemic stroke (AIS) patients with large vessel occlusion (LVO). We hypothesized that the EMSA would detect left hemisphere LVO with a higher sensitivity than right hemisphere LVO. Methods: We trained 24 trauma system-based emergency communication center (ECC) paramedics in the EMSA. ECC-guided EMS in performance of the EMSA on patients with suspected stroke. We compared the sensitivity, specificity, area under the curve (AUC), and 95% confidence interval (CI) of ECC-guided prehospital EMSA for right versus left hemisphere ICA or M1 occlusion. Results: We enrolled 569 patients from September 2016 through February 2018, out of which 236 had a discharge diagnosis of stroke and 173 had a diagnosis of AIS. We excluded patients with bilateral (n=21) and brainstem (n=21) AIS. There were 64 patients with left hemisphere AIS including 19 with LVO. There were 67 patients with right hemisphere AIS including 22 with LVO. A score of ≥ 4 points yielded a sensitivity of 84.2 (95% CI = 60.4-96.6) and specificity of 66.7 (51.1-80.0) for left hemisphere LVO compared to a sensitivity of 68.2 (45.1-86.1) and specificity of 73.9 (58.9-85.7) for right hemisphere LVO. For predicting a left hemisphere LVO, the AUC was 0.77 (0.65-0.90) compared to 0.66 (0.50-0.82) for right-sided LVO. Assigning 2 points for abnormal gaze yielded an AUC of 0.78 (0.66-0.91) versus 0.67 (0.52-0.83) for left and right hemisphere LVO, respectively. Conclusions: The EMSA, like the National Institutes of Health Stroke Scale (NIHSS) upon which it is based, is more sensitive to left compared to right hemisphere LVO. More heavily weighting abnormal gaze did not improve the sensitivity of the EMSA for right hemisphere LVO. There is no comparable data on the right versus left hemisphere performance of other prehospital scales. There is a need to develop sensitive tests of right hemisphere dysfunction that are suitable for use in the field.

Carbon monoxide poisoning can act as a stress test to reveal underlying coronary artery disease: case report

Despite established exposure limits and safety standards as well as the availability of carbon monoxide (CO) alarms, each year 50,000 people in the United States visit emergency departments for CO poisoning. Carbon monoxide poisoning can occur from brief exposures to high levels of CO or from longer exposures to lower levels. Common symptoms can include headaches, nausea and vomiting, dizziness, general malaise, and altered mental status. Some patients may have chest pain, shortness of breath, and myocardial ischemia, and may require mechanical ventilation and treatment of shock. Individuals poisoned by CO often develop brain injury manifested by neurological problems, including cognitive sequelae, anxiety and depression, persistent headaches, dizziness, sleep problems, motor weakness, vestibular and balance problems, gaze abnormalities, peripheral neuropathies, hearing loss, tinnitus, Parkinsonian-like syndrome, and other problems. In addition, some will have cardiac issues or other ailments. While breathing oxygen hastens the removal of carboxyhemoglobin (COHb), hyperbaric oxygen (HBO2) hastens COHb elimination and favorably modulates inflammatory processes instigated by CO poisoning, an effect not observed with breathing normobaric oxygen. Hyperbaric oxygen improves mitochondrial function, inhibits lipid peroxidation transiently, impairs leukocyte adhesion to injured microvasculature, and reduces brain inflammation caused by the CO-induced adduct formation of myelin basic protein. Based upon three supportive randomized clinical trials in humans and considerable evidence from animal studies, HBO2 should be considered for all cases of acute symptomatic CO poisoning. Hyperbaric oxygen is indicated for CO poisoning complicated by cyanide poisoning, often concomitantly with smoke inhalation.

Manipulating visual scanpaths during facial emotion perception modulates functional brain activation in schizophrenia patients and controls.

Individuals with schizophrenia exhibit deficits in facial emotion processing, which have been associated with abnormalities in visual gaze behavior and functional brain activation. However, the relationship between gaze behavior and brain activation in schizophrenia remains unexamined. Studies in healthy individuals and other clinical samples indicate a relationship between gaze behavior and functional activation in brain regions implicated in facial emotion processing deficits in schizophrenia (e.g., fusiform gyrus), prompting the question of whether a similar relationship exists in schizophrenia. This study examined whether manipulating visual scanpaths during facial emotion perception would modulate functional brain activation in a sample of 23 schizophrenia patients and 26 community controls. Participants underwent functional magnetic resonance imaging (MRI) while viewing pictures of emotional faces. During the typical viewing condition, a fixation cue directed participants' gaze primarily to the eyes and mouth, whereas during the atypical viewing condition gaze was directed to peripheral features. Both viewing conditions elicited a robust response throughout face-processing regions. Typical viewing led to greater activation in visual association cortex including the right inferior occipital gyrus/occipital face area, whereas atypical viewing elicited greater activation in primary visual cortex and regions involved in attentional control. There were no between-groups activation differences in response to faces or interaction between group and gaze manipulation. The results indicate that gaze behavior modulates functional activation in early face-processing regions in individuals with and without schizophrenia, suggesting that abnormal gaze behavior in schizophrenia may contribute to activation abnormalities during facial emotion perception. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

A comparative study to determine intermittent versus continuous phototherapy for reducing neonatal hyperbilirubinemia at tertiary care hospital in Chennai, Tamil Nadu, India

Background: Phototherapy is safe and effective in neonatal hyperbilirubinemia. Despite its worldwide application, questions regarding methods of optimizing efficacy remain unanswered, turning the infant is believed to be one of the methods to improve. Severe neonatal hyperbilirubinemia is associated with kernicterus, condition characterized by athetoid spasticity, gaze and visual abnormalities, and sensory-neural hearing loss. It may also be associated with mental retardation. Aim of this study was conducted to compare the efficacy of intermittent with continuous phototherapy.Methods: Study was conducted in 100 neonates from February 2018 to July 2018 in Sree Balaji medical college and hospital. Inclusion criteria were weight >2000 grams, absence of other concomitant diseases, and hyperbilirubinemia not requiring exchange transfusion. The neonates were randomly divided into two groups. Continuous phototherapy group received phototherapy on and off for 2 hours and half an hour respectively and the intermittent phototherapy group on and then off for one hour. Serum total bilirubin levels were measured in every 36 hours.Results: Mean age of the patients was 3.89±1.83(p=.91) days, mean baseline bilirubin was 17.56mg/dl±1.42 (p=0.36), while the mean follow-up bilirubin was 12.85mg/dl±1.65 (p=.95), and the mean difference between the baseline and follow-up bilirubin was 4.7 mg/dl±1.19 (p=.32). For group A and B babies, the mean difference between the baseline and follow-up bilirubin was 4.78 mg/dl±1.20 (p=.32) and 4.63mg/dl±1.18(p=0.32) respectively. The difference between the mean age, mean baseline bilirubin, mean follow-up bilirubin, and the mean decrease in bilirubin for both the groups was statistically not significant.Conclusions: Intermittent and continuous phototherapies were found to be equally effective for reducing neonatal hyperbilirubinemia.

Refining initial diagnosis of Parkinson's disease after follow-up: A 4-year prospective clinical and magnetic resonance imaging study.

ABSTRACTBackgroundNo prospective study of patients with Parkinson's disease (PD) has investigated the appearance of vertical gaze abnormalities, a feature suggestive of progressive supranuclear palsy (PSP).ObjectiveTo identify, within a cohort of patients with an initial diagnosis of PD, those who developed vertical gaze abnormalities during a 4‐year follow‐up, and to investigate the performance of new imaging biomarkers in predicting vertical gaze abnormalities.MethodsA total of 110 patients initially classified as PD and 74 controls were enrolled. All patients underwent clinical assessment at baseline and every year up to the end of the follow‐up. The pons/midbrain area ratio 2.0 and the Magnetic Resonance Parkinsonism Index 2.0 were calculated.ResultsAfter 4‐year follow‐up, 100 of 110 patients maintained the diagnosis of PD, whereas 10 PD patients (9.1%) developed vertical gaze abnormalities, suggesting an alternative diagnosis of PSP‐parkinsonism. At baseline, the Magnetic Resonance Parkinsonism Index 2.0 was the most accurate biomarker in differentiating PD patients who developed vertical gaze abnormalities from those who maintained an initial diagnosis of PD. At the end of follow‐up, both of these biomarkers accurately distinguished PSP‐parkinsonism from PD.ConclusionsOur results demonstrate that a number of patients with an initial diagnosis of PD developed vertical gaze abnormalities during a 4‐year follow‐up, and the diagnosis was changed from PD to PSP‐parkinsonism. In PD patients, baseline Magnetic Resonance Parkinsonism Index 2.0 showed the best performance in predicting the clinical evolution toward a PSP‐parkinsonism phenotype, enabling PSP‐parkinsonism patients to be identified at the earliest stage of the disease for promising disease‐modifying therapies. © 2019 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

Neuroradiological and clinical features in ophthalmoplegia.

Especially in acute onset of ophthalmoplegia, efficient neuroradiological evaluation is necessary to assist differential diagnosis, clinical course, and treatment options. Different manifestations of ophthalmoplegia are explained and illustrated by characteristic neuroradiological and clinical findings. To present those ophthalmoplegic disorders in a clear manner, this review refers to different neuroanatomical structures and compartments. From neuroophthalmological point of view, diseases going ahead with ophthalmoplegia can be divided into (1) efferent infranuclear/peripheral disturbances involving oculomotor cranial nerves, (2) conjugate gaze abnormalities due to internuclear or supranuclear lesions, and (3) diseases of the extraocular eye muscles or their impairment due to intraorbital pathologies. The knowledge of the relationship between neurological findings in ophthalmoplegia and involved neuroanatomical structures is crucial, and neuroradiology can be focused on circumscribed anatomical regions, using optimized investigation protocols.

4. “Gaze abnormalities of Autism Specrum Disorder (ASD) in a Japanese community-based population sample of preschool age.”

4. “Gaze abnormalities of Autism Specrum Disorder (ASD) in a Japanese community-based population sample of preschool age.”

CHN1 gene mutation analysis in patients with Duane retraction syndrome

To investigate CHN1 (chimerin 1) gene mutations in patients with isolated nonsyndromic Duane syndrome and accompanying positive familial history, bilaterality, or various systemic disorders. Patients with Duane retraction syndrome (DRS) and a positive family history of congenital ocular motility disturbance or bilateral involvement or accompanying any congenital disorder(s) seen consecutively at a single center from 2013 to 2016 were enrolled. All subjects underwent full ophthalmologic examination, including refraction, best-corrected visual acuity, ocular alignment and motility, globe retraction, and biomicroscopic or fundus evaluation. DNA samples were investigated by direct sequencing of the coding regions of the CHN1 gene. A total of 30 patients (15 males) were included (mean age, 11.8±10.4years; range, 2-45years): 8 cases presented with bilateral DRS; 22, with unilateral DRS. Family history of ocular motility abnormality was positive in 16 patients. Eleven cases had an additional congenital disorder. In 2 patients, 2 different mutations were detected in the CHN1 gene: p.E313K (c.937G>A) and p.N224S (c.671A>G). CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities. Additional genetic studies evaluating chimerin 1 (CHN1) and its role in the development of the ocular motor axis are needed to provide new data about these mutations and phenotypic variations.

Spontaneous gaze selection and following during naturalistic social interactions in school-aged children and adolescents with autism spectrum disorder.

Using a novel naturalistic paradigm allowing participants the freedom to spontaneously select and follow gaze cues in their environment, this study extends previous research conducted with younger children to determine whether school-age children with autism spectrum disorder (ASD, n = 17) demonstrate abnormal gaze following relative to typically developing (TD, n = 15) children. The participant and experimenter played a series of games, during which the experimenter pseudorandomly averted her gaze toward a social target (person) or a nonsocial target (object). A significant finding was that, relative to TD children, children with ASD were slower to follow the experimenter's gaze relative to the start of the trial (social targets d = -.93 [-1.70, -.16], nonsocial targets d = -1.05 [-1.88, -.20]). When we analyzed the duration of glances to the experimenter, we found that the ASD group made longer glances relative to TD children, but only in the nonsocial target condition (social targets d = .01 [-.68, .71], nonsocial targets d = -.81 [-1.53, -.08]). Other analyses revealed patterns of gaze selection and following that may help interpret the main findings. Despite the differences in the timing of gaze selection and following, the most common type of responder in both groups was one who followed the experimenter's gaze on over half of the trials. This pattern of results argues against a clear deficit in social attention in school-age children with ASD and underscores the importance of measuring both the timing of distinct mechanisms of social attention and the context in which these behaviors occur. (PsycINFO Database Record

What do eye movements tell us about the visual perception of individuals with congenital prosopagnosia?

The lack of inversion effect for face recognition in congenital prosopagnosia (CP) is consistent with the hypothesis of a failure in holistic processing. However, although CPs' abnormal gaze behavior for upright faces has already been demonstrated, neither their scanning strategy for inverted faces, nor the possibility that their abnormal gaze behavior with upright faces is because of reasons other than the holistic deficit have been investigated yet. We recorded the eye movements of a congenital prosopagnosic and a control group during the encoding of unknown faces, objects, and flowers. Two types of stimuli (faces and objects) were presented upright and inverted. CPs explored upright and inverted faces in the same way (i.e., similar number of fixations of the same duration and similarly distributed), whereas controls increased the number of fixations and their duration during the presentation of inverted faces. By contrast, the 2 groups showed a similar inversion effect during the encoding of objects. Finally, CPs showed anomalous exploration of within-class objects (i.e., flowers) and impairment in subordinate-level object discrimination. Our results demonstrate that: (a) CPs use the same part-based strategy in encoding both upright and inverted faces, suggesting a possible interpretation of the lack of inversion effect in this population; (b) CPs' lack of inversion effect is face-specific and does not affect objects; (c) however, CPs' deficit seems not to be limited to faces, and to extend to individual-item recognition within a class. (PsycINFO Database Record

Freezing of gait is an early clinical feature of progressive supranuclear palsy.

Background and AimEarly clinical diagnosis of progressive supranuclear palsy (PSP) remains challenging.AimWe attempted to identify any sign or symptom to diagnose PSP earlier.MethodsA total of 401 patients, 40 with PSP and 361 with other neurodegenerative disorders, were included. We followed these patients for at least 1 year since 2009. We reviewed the signs and symptoms of patients with PSP in a standardized manner, and observed four manifestations: “vertical supranuclear gaze abnormality,” “movement disorders,” “pseudobulbar palsy” and “dementia of frontal type.” Features, such as symmetric parkinsonism, freezing of gait, postural instability, dysarthria and/or dysphagia, or dementia of frontal type, were considered core clinical features.ResultsIn patients with PSP, “movement disorders” was the most common manifestation, whereas “vertical supranuclear gaze abnormality” was uncommon during the early disease course. A total of 16 patients fulfilled the National Institute for Neurological Disorders and Stroke and Society for PSP criteria for possible PSP at their first clinic visit. Of the remaining 24 patients, 15 presented with one or more core clinical features before fulfilling the criteria for possible PSP; nine patients had a clinical diagnosis of PSP but never fulfilled the criteria. A total of 49 of the 361 patients with other neurodegenerative disorders had core clinical features. A comparison showed that freezing of gait differentiated the groups the best over the disease course.ConclusionFreezing of gait is an early feature that might improve the clinical diagnosis of PSP, whereas vertical supranuclear gaze abnormality is not.

201. Understanding Altered Eye Gaze Perception in Schizophrenia Using Dynamic Causal Modeling

Abstract Background: Previous studies have shown abnormal eye gaze perception in schizophrenia, associated with compromised social functioning. However, the neural mechanisms of altered gaze perception in schizophrenia remain unclear, limiting our ability to design effective interventions. This study aims to use dynamic causal modeling (DCM) of functional MRI time-series data to reveal aberrant dynamics between brain regions associated with eye gaze perception in schizophrenia. Methods: Twenty-five patients with schizophrenia or schizoaffective disorder (SZ) and 20 healthy controls (HC) completed a gaze perception task during BOLD fMRI. Participants viewed faces with different gaze angles and decided either the gaze direction (Gaze: “Looking at you?” yes/no) or gender of the face (Gender: male/female). Four nodes were identified as regions of interest for DCM as they showed differential activation between Gaze and Gender: secondary visual cortex (Vis), temporo-parietal junction (TPJ), anterior insula (aIns), and medial prefrontal cortex (mPFC). A bilinear model space was generated with these 4 nodes, as well as visual input of face, self-connections, bidirectional connections between nodes, and modulation of gaze on the connections. Results: Bayesian model selection revealed a winning model, in which Vis showed bottom-up influence on mPFC, which in turn had direct top-down influences on aIns and TPJ and indirect top-down influence on Vis through TPJ; attending to gaze modulated the Vis-mPFC and mPFC-TPJ connections. Group difference was observed in the Gaze modulation on the Vis-mPFC connection, such that attending to gaze inhibited the bottom-up connection from Vis to mPFC but this inhibition was weakened in SZ relative to HC. Conclusion: These findings suggest that when determining the self-referential nature of social information, it is critical to suppress stimulus-driven processing and rely more on conceptually-driven cognition formulated from past experience. A reduced ability to do so may underlie the abnormalities observed in eye gaze perception in schizophrenia.

Correction to: Clinical Selection Strategies to Identify Ischemic Stroke Patients With Large Anterior Vessel Occlusion: Results From SITS-ISTR (Safe Implementation of Thrombolysis in Stroke International Stroke Thrombolysis Registry).

HomeStrokeVol. 48, No. 3Correction to: Clinical Selection Strategies to Identify Ischemic Stroke Patients With Large Anterior Vessel Occlusion: Results From SITS-ISTR (Safe Implementation of Thrombolysis in Stroke International Stroke Thrombolysis Registry) Free AccessCorrectionPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessCorrectionPDF/EPUBCorrection to: Clinical Selection Strategies to Identify Ischemic Stroke Patients With Large Anterior Vessel Occlusion: Results From SITS-ISTR (Safe Implementation of Thrombolysis in Stroke International Stroke Thrombolysis Registry) Originally published1 Mar 2017https://doi.org/10.1161/STR.0000000000000123Stroke. 2017;48:e95This article corrects the followingClinical Selection Strategies to Identify Ischemic Stroke Patients With Large Anterior Vessel OcclusionIn the article by Scheitz et al, “Clinical Selection Strategies to Identify Ischemic Stroke Patients With Large Anterior Vessel Occlusion: Results From SITS-ISTR (Safe Implementation of Thrombolysis in Stroke International Stroke Thrombolysis Registry),” which published online ahead of print January 13, 2017, and appears in the February 2017 issue of the journal (Stroke. 2017;48:290–297. DOI: 10.1161/STROKEAHA.116.014431), a correction is needed.On page 290, in the Abstract, the sentence read “Addition of abnormal gaze–face–arm–speech–time (G-FAST) or high scores on other simplified stroke scales increased specificity,” has been changed to read “Addition of the item best gaze to the original FAST score (G-FAST) or high scores on other simplified stroke scales increased specificity.”On page 290, the correspondence E-mail address read “[email protected],” has been changed to read “[email protected]”On page 291, right column, fourth line read “Because the NIHSS item best gaze is missing in the typical FAST algorithm but strongly associated with LAVO,21,26–28 we tested the hypothesis that adding the abnormal gaze–face–arm–speech–time (G-FAST) may improve its predictive value,” has been changed to read “Because the NIHSS item best gaze is missing in the typical FAST algorithm but strongly associated with LAVO,21,26–28 we tested the hypothesis that adding the item best gaze to FAST (G-FAST) may improve its predictive value.”This correction has been made to the current online version of the article, which is available at http://stroke.ahajournals.org/content/48/2/290. Previous Back to top Next FiguresReferencesRelatedDetailsRelated articlesClinical Selection Strategies to Identify Ischemic Stroke Patients With Large Anterior Vessel OcclusionJan F. Scheitz, et al. Stroke. 2017;48:290-297 March 2017Vol 48, Issue 3 Advertisement Article InformationMetrics © 2017 American Heart Association, Inc.https://doi.org/10.1161/STR.0000000000000123PMID: 28242807 Originally publishedMarch 1, 2017 PDF download Advertisement

Dysfunctional gaze processing in bipolar disorder.

Gaze conveys emotional information, and humans present sensitivity to its direction from the earliest days of life. Bipolar disorder is a disease characterized by fluctuating states of emotional and cognitive dysregulation. To explore the role of attentional control on face processing in bipolar patients (BP) we used gaze direction as an emotion modulation parameter in a two-back Working Memory (WM) task while high-density EEG data were acquired. Since gaze direction influences emotional attributions to faces with neutral expressions as well, we presented neutral faces with direct and averted gaze. Nineteen euthymic BP and a sample of age- and gender-matched controls were examined.In BP we observed diminished P200 and augmented P300 evoked responses, differentially modulated by non-repeated or repeated faces, as well as by gaze direction. BP showed a reduced P200 amplitude, significantly stronger for faces with direct gaze than averted gaze. Source localization of P200 indicated decreased activity in sensory-motor regions and frontal areas suggestive of abnormal affective processing of neutral faces.The present study provides neurophysiological evidence for abnormal gaze processing in BP and suggests dysfunctional processing of direct eye contact as a prominent characteristic of bipolar disorder.

Noncavernous arteriovenous shunts mimicking carotid cavernous fistulae.

The classic symptoms and signs of carotid cavernous sinus fistula or cavernous sinus dural arteriovenous fistula (AVF) consist of eye redness, exophthalmos, and gaze abnormality. The angiography findings typically consist of arteriovenous shunt at cavernous sinus with ophthalmic venous drainage with or without cortical venous reflux. In rare circumstances, the shunts are localized outside the cavernous sinus, but mimic symptoms and radiography of the cavernous shunt. We would like to present the other locations of the arteriovenous shunt, which mimic the clinical presentation of carotid cavernous fistulae, and analyze venous drainages. We retrospectively examined the records of 350 patients who were given provisional diagnoses of carotid cavernous sinus fistulae or cavernous sinus dural AVF in the division of Interventional Neuroradiology, Ramathibodi Hospital, Bangkok between 2008 and 2014. Any patient with cavernous arteriovenous shunt was excluded. Of those 350 patients, 10 patients (2.85%) were identified as having noncavernous sinus AVF. The angiographic diagnoses consisted of three anterior condylar (hypoglossal) dural AVF, two traumatic middle meningeal AVF, one lesser sphenoid wing dural AVF, one vertebro-vertebral fistula (VVF), one intraorbital AVF, one direct dural artery to cortical vein dural AVF, and one transverse-sigmoid dural AVF. Six cases (60%) were found to have venous efferent obstruction. Arteriovenous shunts mimicking the cavernous AVF are rare, with a prevalence of only 2.85% in this series. The clinical presentation mainly depends on venous outflow. The venous outlet of the arteriovenous shunts is influenced by venous afferent-efferent patterns according to the venous anatomy of the central nervous system and the skull base, as well as by architectural disturbance, specifically, obstruction of the venous outflow.

Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients

BackgroundNeuronopathic Gaucher disease type 3 (GD3) is frequent in northern Sweden, whereas GD1 is found throughout the country. In a nation-wide study, we examined neurological manifestations and clinical course in 12 patients with GD3 and 13 patients with GD1. MethodsThe patients were evaluated by standardized neurological assessments. Every sixth month, the GD3 patients were rated with the modified Severity Scoring Tool. At baseline and at the 3years follow-up, patients underwent University of Pennsylvania Smell Identification Test, Montreal Cognitive Assessment and Hospital Anxiety and Depression Scale. When clinical signs were present, additional examinations were undertaken. ResultsMarked clinical heterogeneity was evident in both GD3 and GD1 groups. Several GD3 patients had a hitherto unreported rapid and repetitive dystonia-like hyperkinetic movement disorder. Most patients with GD3 have abnormalities of horizontal gaze, ataxia and focal epilepsy, some also had cognitive impairment, anxiety and hyposmia. Six GD3 patients, all homoallelic for L444P GBA1 mutations, have lived beyond 40years of age; and none has developed Parkinsonism. Two of the GD1 patients suffer from Parkinsonism; mild to complete hyposmia was present in six GD3 and five GD1 patients. Neither the group of GD3 nor GD1 patients had detectable progression of their neurological manifestations. ConclusionsThese middle-aged and older Swedish GD3 or GD1 patients are clinically stable over time. However, we have identified unusual clinical features, discordant phenotypes and a hyperkinetic dystonia-like movement disorder which appears unique to this Swedish disease variant and expands the phenotype for GD.

Diversified psychiatric presentation in a case of progressive supranuclear palsy

Progressive supranuclear palsy (PSP) is an unusual neurodegenerative disorder with variant clinical phenotypes. Accurate diagnosis is challenging in the early stage, especially in psychiatric clinics, where misdiagnoses with psychiatric illness are common. A case of PSP was difficult to differentiate from other Parkinsonian syndromes initially, and the patient's affective symptoms predated the onset of other symptoms. Gaze abnormality and frontal lobe syndromes emerged and she was diagnosed with PSP 5 months after the first psychiatric visit. Heightened awareness of PSP and its diagnosis are important, not only because of prognostic implications, but also because of appropriate interventions and focused therapeutic targets.

Gazefinder as a clinical supplementary tool for discriminating between autism spectrum disorder and typical development in male adolescents and adults.

BackgroundGaze abnormality is a diagnostic criterion for autism spectrum disorder (ASD). However, few easy-to-use clinical tools exist to evaluate the unique eye-gaze patterns of ASD. Recently, we developed Gazefinder, an all-in-one eye-tracking system for early detection of ASD in toddlers. Because abnormal gaze patterns have been documented in various ASD age groups, we predicted that Gazefinder might also detect gaze abnormality in adolescents and adults. In this study, we tested whether Gazefinder could identify unique gaze patterns in adolescents and adults with ASD.MethodsWe measured the percentage of eye fixation time allocated to particular objects depicted in movies (i.e., eyes and mouth in human face movies, upright and inverted biological motion in movies that presented these stimuli simultaneously, and people and geometry in movies that presented these stimuli simultaneously) by male adolescents and adults with ASD (N = 26) and age-matched males with typical development (TD; N = 35). We compared these percentages between the two groups (ASD and TD) and with scores on the social responsiveness scale (SRS). Further, we conducted discriminant analyses to determine if fixation times allocated to particular objects could be used to discriminate between individuals with and without ASD.ResultsCompared with the TD group, the ASD group showed significantly less fixation time at locations of salient social information (i.e., eyes in the movie of human faces without lip movement and people in the movie of people and geometry), while there were no significant groupwise differences in the responses to movies of human faces with lip movement or biological motion. In a within-group correlation analysis, a few of the fixation-time items correlated with SRS, although most of them did not. No items significantly correlated with SRS in both ASD and TD groups. The percentage fixation times to eyes and people, which exhibited large effect sizes for the group difference, could differentiate ASD and TD with a sensitivity of 81.0 % and a specificity of 80.0 %.ConclusionsThese findings suggest that Gazefinder is potentially a valuable and easy-to-use tool for objectively measuring unique gaze patterns and discriminating between ASD and TD in male adolescents and adults.Electronic supplementary materialThe online version of this article (doi:10.1186/s13229-016-0083-y) contains supplementary material, which is available to authorized users.

Eye-tracking reveals a slowdown of social context processing during intention attribution in patients with schizophrenia.

Schizophrenia is associated with poor theory of mind (ToM), particularly in the attribution of intentions to others. It is also associated with abnormal gaze behaviours and contextual processing. This study investigated to what extent impaired ToM in patients with schizophrenia is related to abnormal processing of social context. We evaluated ToM using a nonverbal intention attribution task based on comic strips depicting social/nonsocial and contextual/noncontextual events while eye movements were recorded. Eye-tracking was used to assess processing time dedicated to visual cues contained in regions of interest identified in a pilot study. We measured cognitive contextual control on a separate task. We tested 29 patients with schizophrenia and 29 controls. Compared with controls, patients were slower in intention attribution but not in physical reasoning. They looked longer than controls at contextual cues displayed in the first 2 context pictures of the comic strips, and this difference was greater for intention attribution than for physical reasoning. We found no group difference in time spent looking at noncontextual cues. Patients' impairment in contextual control did not explain their increased reaction time and gaze duration on contextual cues during intention attribution. Difficulty may not have been equivalent between intention attribution and physical reasoning conditions. Overall, schizophrenia was characterized by a delay in intention attribution related to a slowdown of social context processing that was not explained by worse executive contextual control.