Perceptual Deficits Research Articles

Persistent and transient olfactory deficits in COVID-19 are associated to inflammation and zinc homeostasis.

The Coronavirus Disease 2019 (COVID-19) is mainly a respiratory syndrome that can affect multiple organ systems, causing a variety of symptoms. Among the most common and characteristic symptoms are deficits in smell and taste perception, which may last for weeks/months after COVID-19 diagnosis owing to mechanisms that are not fully elucidated. In order to identify the determinants of olfactory symptom persistence, we obtained olfactory mucosa (OM) from 21 subjects, grouped according to clinical criteria: i) with persistent olfactory symptoms; ii) with transient olfactory symptoms; iii) without olfactory symptoms; and iv) non-COVID-19 controls. Cells from the olfactory mucosa were harvested for transcriptome analyses. RNA-Seq assays showed that gene expression levels are altered for a long time after infection. The expression profile of micro RNAs appeared significantly altered after infection, but no relationship with olfactory symptoms was found. On the other hand, patients with persistent olfactory deficits displayed increased levels of expression of genes involved in the inflammatory response and zinc homeostasis, suggesting an association with persistent or transient olfactory deficits in individuals who experienced SARS-CoV-2 infection.

The effects of abnormal visual experience on neurodevelopmental disorders.

Normal visual development is supported by intrinsic neurobiological mechanisms and by appropriate stimulation from the environment, both of which facilitate the maturation of visual functions. However, an offset of this balance can give rise to visual disorders. Therefore, understanding the factors that support normal vision during development and in the mature brain is important, as vision guides movement, enables social interaction, and allows children to recognize and understand their environment. In this paper, we review fundamental mechanisms that support the maturation of visual functions and discuss and draw links between the perceptual and neurobiological impairments in autism spectrum disorder (ASD) and schizophrenia. We aim to explore how this is evident in the case of ASD, and how perceptual and neurobiological deficits further degrade social ability. Furthermore, we describe the altered perceptual experience of those with schizophrenia and evaluate theories of the underlying neural deficits that alter perception.

Assessment of postural balance in patients with stroke

The Cerebral Vascular Accident (CVA) results in disabilities of paretic limbs, but few studies have investigated the impacts of CVA on perception deficits as well as related functional changes. Motor function alterations caused by CVA, such as the presence of associated reactions, loss of postural control mechanisms, and tone disorders, shift the body's center of gravity, generating a risk of falls. The aim of the present study was to evaluate postural balance changes in patients affected by CVA using the POMA-Brazil Scale (Performance Oriented Mobility Assessment). A cross-sectional study was conducted to assess postural balance changes in patients diagnosed with CVA undergoing rehabilitation at the UNIT Health Center, CEMISE Physiotherapy Service, and Maria Virgínia Leite Franco Rehabilitation Center in Aracaju, Sergipe. The B-POMA subscale consists of 13 tasks (sitting balance, rising from a chair, immediate standing balance, standing balance, eyes closed balance, 360-degree turning balance, resistance to displacement (Nudge Test), neck turning, unipedal stance balance, spinal extension, reaching upward, leaning forward, and sitting), aimed at detecting fall risk factors in elderly individuals with disabilities or chronic illnesses. Descriptive statistics were used for numerical variables, frequency distribution for demographic and clinical variables, and individuals per task, with the application of the chi-square test and the Student's t-test. Among the tasks measured according to the B-POMA subscale, sitting balance was the most frequent qualitative response (97.5%), followed by immediate standing, eyes closed, and leaning forward. Unipedal stance balance was the least common normal task (25%), and 360-degree turning was the most adaptive (62.5%). Balance changes are associated with cerebral vascular accidents in terms of dynamic equilibrium. This study demonstrated that unipedal stance balance was the most affected task, 360-degree turning balance was the most adaptive, and sitting balance was the least affected. There were no significant differences in balance scores based on sex, age, and time of injury.

Do infant behaviors mediate the relationship of prenatal cocaine exposure (PCE) to adult perceptual reasoning deficits?

Do infant behaviors mediate the relationship of prenatal cocaine exposure (PCE) to adult perceptual reasoning deficits?

Event-Related Potentials in Assessing Visual Speech Cues in the Broader Autism Phenotype: Evidence from a Phonemic Restoration Paradigm.

Audiovisual speech perception includes the simultaneous processing of auditory and visual speech. Deficits in audiovisual speech perception are reported in autistic individuals; however, less is known regarding audiovisual speech perception within the broader autism phenotype (BAP), which includes individuals with elevated, yet subclinical, levels of autistic traits. We investigate the neural indices of audiovisual speech perception in adults exhibiting a range of autism-like traits using event-related potentials (ERPs) in a phonemic restoration paradigm. In this paradigm, we consider conditions where speech articulators (mouth and jaw) are present (AV condition) and obscured by a pixelated mask (PX condition). These two face conditions were included in both passive (simply viewing a speaking face) and active (participants were required to press a button for a specific consonant-vowel stimulus) experiments. The results revealed an N100 ERP component which was present for all listening contexts and conditions; however, it was attenuated in the active AV condition where participants were able to view the speaker's face, including the mouth and jaw. The P300 ERP component was present within the active experiment only, and significantly greater within the AV condition compared to the PX condition. This suggests increased neural effort for detecting deviant stimuli when visible articulation was present and visual influence on perception. Finally, the P300 response was negatively correlated with autism-like traits, suggesting that higher autistic traits were associated with generally smaller P300 responses in the active AV and PX conditions. The conclusions support the finding that atypical audiovisual processing may be characteristic of the BAP in adults.

СОВРЕМЕННЫЕ АСПЕКТЫ ДИАГНОСТИКИ, КОРРЕКЦИИ И СТРАТЕГИИ СО-ПРОВОЖДЕНИЯ ЛЮДЕЙ С РАССТРОЙСТВАМИ АУТИСТИЧЕСКОГО СПЕКТРА

Introduction: Autism spectrum disorder is a widespread disorder characterized by changes in various body systems. Sensory area of patients: It is a heterogeneous neuropsychiatric disorder with a deficit of perception of sensory information, and with expressed disorders in the sphere of communication and speech underdevelopment and limited interests. Motor skills of children: unexpected, spontaneous movements of various parts of the body, and violations of the sequence of basic, habitual actions. Impaired psychomotor development in autism: There is a possibility that the distortion of the mirror neuron system may lead to a lack of speech function, which may cause a lack of ability to learn through imitation mechanisms. Identification, diagnosis of mental development, organization of help: Observations, conversations and medical documentation make it possible to draw a conclusion about the affective development of the child. Principles of medication correction: consist in individual selection of remedies and methods in each individual case and are determined by the child's behavior. Regular and long-term work of qualified specialists consists in selecting the necessary therapy, which includes neuroleptics-risperidone and aripiprazole to reduce negativity, aggression, but they have side effects in the form of carbohydrate metabolism disorders. Conclusion: The article points out the main general task of supporting children with autism spectrum disorders, which is the pursuit of achieving the highest possible level of social adaptation and socialization, which involves knowing the attitudes toward children with autism of different layers of society - from family members to outsiders.

Visual-Motor Integration Deficits in 3q29 Deletion Syndrome

3q29 deletion syndrome (3q29del) is associated with neuropsychiatric and neurodevelopmental phenotypes. We previously reported that graphomotor weakness is present in up to 78% of individuals with 3q29del. We have now explored nuances of the graphomotor phenotype and its association with other comorbidities in this population. Participants were recruited from the online 3q29 registry (3q29deletion.org) for two days of deep phenotyping. 32 individuals with 3q29del (62.5% male) were evaluated with the Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI) to assess visual-motor integration. Participants were also evaluated with measures of cognitive ability, executive function, adaptive behavior, and school function. Males with 3q29del performed significantly worse than females on the VMI and Motor Coordination subtest. VMI performance was significantly associated with ADHD diagnosis and cognitive ability. Compared to published data from individuals with 22q11.2 deletion syndrome, individuals with 3q29del showed significantly more impairment. The 3q29 deletion is associated with substantial deficits in visual-motor integration, Visual Perception, and Motor Coordination. Our data suggests that 3q29del may qualify as a nonverbal learning disability. Future studies should assess whether individuals with 3q29del would benefit from early interventions, including occupational therapy.

Deficient Audiovisual Speech Perception in Schizophrenia: An ERP Study.

In everyday verbal communication, auditory speech perception is often disturbed by background noise. Especially in disadvantageous hearing conditions, additional visual articulatory information (e.g., lip movement) can positively contribute to speech comprehension. Patients with schizophrenia (SZs) demonstrate an aberrant ability to integrate visual and auditory sensory input during speech perception. Current findings about underlying neural mechanisms of this deficit are inconsistent. Particularly and despite the importance of early sensory processing in speech perception, very few studies have addressed these processes in SZs. Thus, in the present study, we examined 20 adult subjects with SZ and 21 healthy controls (HCs) while presenting audiovisual spoken words (disyllabic nouns) either superimposed by white noise (-12 dB signal-to-noise ratio) or not. In addition to behavioral data, event-related brain potentials (ERPs) were recorded. Our results demonstrate reduced speech comprehension for SZs compared to HCs under noisy conditions. Moreover, we found altered N1 amplitudes in SZ during speech perception, while P2 amplitudes and the N1-P2 complex were similar to HCs, indicating that there may be disturbances in multimodal speech perception at an early stage of processing, which may be due to deficits in auditory speech perception. Moreover, a positive relationship between fronto-central N1 amplitudes and the positive subscale of the Positive and Negative Syndrome Scale (PANSS) has been observed.

Inferential Emotion Tracking reveals impaired context-based emotion processing in individuals with high Autism Quotient scores

Emotion perception is essential for successful social interactions and maintaining long-term relationships with friends and family. Individuals with autism spectrum disorder (ASD) experience social communication deficits and have reported difficulties in facial expression recognition. However, emotion recognition depends on more than just processing face expression; context is critically important to correctly infer the emotions of others. Whether context-based emotion processing is impacted in those with Autism remains unclear. Here, we used a recently developed context-based emotion perception task, called Inferential Emotion Tracking (IET), and investigated whether individuals who scored high on the Autism Spectrum Quotient (AQ) had deficits in context-based emotion perception. Using 34 videos (including Hollywood movies, home videos, and documentaries), we tested 102 participants as they continuously tracked the affect (valence and arousal) of a blurred-out, invisible character. We found that individual differences in Autism Quotient scores were more strongly correlated with IET task accuracy than they are with traditional face emotion perception tasks. This correlation remained significant even when controlling for potential covarying factors, general intelligence, and performance on traditional face perception tasks. These findings suggest that individuals with ASD may have impaired perception of contextual information, it reveals the importance of developing ecologically relevant emotion perception tasks in order to better assess and treat ASD, and it provides a new direction for further research on context-based emotion perception deficits in ASD.

Cognitive Orientation to Daily Occupational Performance: A Randomized Controlled Trial Examining Intervention Effects on Children with Developmental Coordination Disorder Traits.

Children with traits of developmental coordination disorder (DCD-t) may experience occupational performance problems that go unrecognized and therefore may not be adequately supported. The cognitive orientation to daily occupational performance (CO-OP) approach has been effective in interventions for developmental coordination disorder (DCD). Based on an open-label, randomized controlled trial design, this study evaluated the effects of CO-OP on the occupational performance and motor skills of older kindergarten children with DCD-t using the School Assessment of Motor and Process Skills (S-AMPS) and the Movement Assessment Battery for Children, Second Edition. Children with a total DCDQ score of less than 40 or M-ABC2 scores in the 5th to 16th percentile were considered to have DCD-t. Furthermore, children with DCD-t and S-AMPS process skills less than 0.7 were considered to have DAMP (Deficits in Attention, Motor control and Perception)-t. After 3 months of CO-OP intervention, the performance and motor skills of children with DCD-t improved significantly. However, there were no significant changes noted in the motor skills of children with DAMP-t, although their occupational performance improved. These results suggest that CO-OP is effective even for older kindergarten children with DCD-t. However, further improvement of the CO-OP approach or a different strategy is required for children with ADHD comorbidity.

Wild-type MECP2 expression coincides with age-dependent sensory phenotypes in a female mouse model for Rett syndrome.

Rett syndrome is characterized by an early period of typical development and then, regression of learned motor and speech skills in girls. Loss of MECP2 protein is thought to cause Rett syndrome phenotypes. The specific underlying mechanisms from typical developmental trajectory to regression features throughout life are unclear. Lack of established timelines to study the molecular, cellular, and behavioral features of regression in female mouse models is a major contributing factor. Due to random X-chromosome inactivation, female patients with Rett syndrome and female mouse models for Rett syndrome (Mecp2Heterozygous , Het) express a functional copy of wild-type MECP2 protein in approximately half of all cells. As MECP2 expression is regulated during early postnatal development and experience, we characterized the expression of wild-type MECP2 in the primary somatosensory cortex of female Het mice. Here, we report increased MECP2 levels in non-parvalbumin-positive neurons of 6-week-old adolescent Het relative to age-matched wild-type controls, while also displaying typical levels of perineuronal net expression in the barrel field subregion of the primary somatosensory cortex, mild tactile sensory perception deficits, and efficient pup retrieval behavior. In contrast, 12-week-old adult Het express MECP2 at levels similar to age-matched wild-type mice, show increased perineuronal net expression in the cortex, and display significant tactile sensory perception deficits. Thus, we have identified a set of behavioral metrics and the cellular substrates to study regression during a specific time in the female Het mouse model, which coincides with changes in wild-type MECP2 expression. We speculate that the precocious increase in MECP2 expression within specific cell types of adolescent Het may provide compensatory benefits at the behavioral level, while the inability to further increase MECP2 levels leads to regressive behavioral phenotypes over time.

Stability of complex sound representations in the auditory midbrain across the lifespan despite age-related brainstem delays

The extent to which aging of the central auditory pathway impairs auditory perception in the elderly independent of peripheral cochlear decline is debated. To cause auditory deficits in normal hearing elderly, central aging needs to degrade neural sound representations at some point along the auditory pathway. However, inaccessible to psychophysical methods, the level of the auditory pathway at which aging starts to effectively degrade neural sound representations remains poorly differentiated. Here we tested how potential age-related changes in the auditory brainstem affect the stability of spatiotemporal multiunit complex speech-like sound representations in the auditory midbrain of old normal hearing CBA/J mice. Although brainstem conduction speed slowed down in old mice, the change was limited to the sub-millisecond range and only minimally affected temporal processing in the midbrain (i.e. gaps-in-noise sensitivity). Importantly, besides the small delay, multiunit complex temporal sound representations in the auditory midbrain did not differ between young and old mice. This shows that although small age-related neural effects in simple sound parameters in the lower brainstem may be present in aging they do not effectively deteriorate complex neural population representations at the level of the auditory midbrain when peripheral hearing remains normal. This result challenges the widespread belief of ‘pure’ central auditory decline as an automatic consequence of aging, at least up to the inferior colliculus. However, the stability of midbrain processing in aging emphasizes the role of undetected ‘hidden’ peripheral damage and accumulating effects in higher cortical auditory-cognitive processing explaining perception deficits in ‘normal hearing’ elderly.

Motion and form coherence processing in individuals with cerebral visual impairment.

Using a visual psychophysical paradigm, we sought to assess motion and form coherence thresholds as indices of dorsal and ventral visual stream processing respectively, in individuals with cerebral visual impairment (CVI). We also explored potential associations between psychophysical assessments and brain lesion severity in CVI. Twenty individuals previously diagnosed with CVI (mean age = 17 years 11 months [SD 5 years 10 months]; mean Verbal IQ = 86.42 [SD 35.85]) and 30 individuals with neurotypical development (mean age = 20 years 1 month [SD 3 years 8 months]; mean Verbal IQ = 110.05 [SD 19.34]) participated in the study. In this two-group comparison, cross-sectional study design, global motion, and form pattern coherence thresholds were assessed using a computerized, generalizable, self-administrable, and response-adaptive psychophysical paradigm called FInD (Foraging Interactive D-prime). Consistent with dorsal stream dysfunction, mean global motion (but not form) coherence thresholds were significantly higher in individuals with CVI compared to controls. No statistically significant association was found between coherence thresholds and lesion severity. These results suggest that the objective assessment of motion and form coherence threshold sensitivities using this psychophysical paradigm may be useful in helping to characterize perceptual deficits and the complex clinical profile of CVI. In participants with cerebral visual impairment (CVI), motion (but not form) coherence thresholds were significantly higher compared to controls. These psychophysical results support the notion of dorsal stream dysfunction in CVI.

Right posterior hypometabolism in Pisa syndrome of Parkinson’s disease: A key to explain body schema perception deficit?

BackgroundPisa syndrome (PS) is a trunk postural abnormality in Parkinson's disease (PD). Its pathophysiology is still debated: peripheral and central mechanisms have been hypothesized. ObjectiveTo investigate the role of nigrostriatal dopaminergic deafferentation and of brain metabolism impairment in the onset PS in PD patients. MethodsWe retrospectively selected 34 PD patients who developed PS (PS+) and who had previously undergone dopamine transporter (DaT)-SPECT and/or brain F-18 fluorodeoxyglucose PET (FDG-PET). PS + patients were divided considering leaning body side in left ((l)PS+) or right ((r)PS+). DaT-SPECT specific-to-non-displaceable binding ratio (SBR) of striatal regions (BasGan V2 software) were compared between 30 PS+ and 60 PD patients without PS (PS-) as well as between 16 (l)PS+ and 14 (r)PS + patients. Voxel-based analysis (SPM12) was used to compare FDG-PET among 22 PS+, 22 PS- and 42 healthy controls (HC) and between 9 (r)PS+ and 13 (l)PS+. ResultsNo significant DaT-SPECT SBR differences were found between PS+ and PS- groups or between (r)PD+ and (l)PS + subgroups. Compared to HC, significant hypometabolism in PS+ was found in bilateral temporal-parietal regions, mainly in the right hemisphere, whereas the right Brodmann area 39 (BA39) was relatively hypometabolic both in the (r)PS+ and in the (l)PS+. BA39 and bilateral posterior cingulate cortex were significantly hypometabolic in PS + than in PS- group. ConclusionsAs a hub of the network supervising the body schema perception, the involvement of the right posterior hypometabolism supports the hypothesis PS is a result of a somatosensory perceptive deficit rather than a nigrostriatal dopaminergic unbalance.

Impaired emotion perception in schizophrenia shows sex differences with channel- and category-specific effects: A pilot study

Individuals with schizophrenia reportedly demonstrate deficits in emotion perception. Relevant studies on the effects of decoder's sex, communication channels and emotion categories have produced mixed findings and seldom explored the interactions among these three key factors. The present pilot study examined how male and female individuals with schizophrenia and healthy controls perceived emotional (e.g., angry, happy, and sad) and neutral expressions from verbal semantic and nonverbal prosodic and facial channels. Twenty-eight (11 females) individuals with schizophrenia and 30 healthy controls (13 females) were asked to recognize emotional facial expressions, emotional prosody, and emotional semantics. Both accuracy and response time showed subpar performance for all communication channels and emotional categories in the schizophrenia group. More severe emotion perception deficits were found with the nonverbal (not the verbal) materials. There was also a reduced level of impairment with anger perception, especially in the female individuals with schizophrenia while biased perception towards emotional semantics was more pronounced in male individuals with schizophrenia. These findings, although preliminary, indicate the channel- and category-specific nature of emotion perception with potential sex differences among people with schizophrenia, which has important theoretical and practical implications.

Correction to: Limb Apraxias: The Influence of Higher Order Perceptual and Semantic Deficits in Motor Recovery After Stroke.

HomeStrokeVol. 54, No. 3Correction to: Limb Apraxias: The Influence of Higher Order Perceptual and Semantic Deficits in Motor Recovery After Stroke Free AccessCorrectionPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessCorrectionPDF/EPUBCorrection to: Limb Apraxias: The Influence of Higher Order Perceptual and Semantic Deficits in Motor Recovery After Stroke Originally published27 Feb 2023https://doi.org/10.1161/STR.0000000000000429Stroke. 2023;54:e125This article corrects the followingLimb Apraxias: The Influence of Higher Order Perceptual and Semantic Deficits in Motor Recovery After StrokeIn the article by Rounis and Binkofski, “Limb Apraxias: The Influence of Higher Order Perceptual and Semantic Deficits in Motor Recovery After Stroke,” which published December 21, 2022 and appeared in the January 2023 issue (Stroke.2023;54:30–43. doi: 10.1161/STROKEAHA.122.037948), corrections are needed.In the abstract, it was stated “These deficits are due to deficits in integrating perceptual and semantic information to generate complex movements.”The correct sentence should be “These are due to deficits in integrating perceptual and semantic information to generate complex movements.”Also in the abstract, the sentence “The anterior- to posterior-axis of brain areas are disrupted depending on the increasing…” should appear as “An anterior- to posterior-axis of brain areas are disrupted depending on the increasing….”These corrections have been made to the current online version of the article, which is available at https://www.ahajournals.org/doi/10.1161/STROKEAHA.122.037948. Previous Back to top Next FiguresReferencesRelatedDetailsRelated articlesLimb Apraxias: The Influence of Higher Order Perceptual and Semantic Deficits in Motor Recovery After StrokeElisabeth Rounis, et al. Stroke. 2023;54:30-43 March 2023Vol 54, Issue 3 Advertisement Article InformationMetrics © 2023 American Heart Association, Inc.https://doi.org/10.1161/STR.0000000000000429PMID: 36848436 Originally publishedFebruary 27, 2023 PDF download Advertisement

Cerebellar dysfunction and autism spectrum disorders – what do we know?

IntroductionAutism spectrum disorders (ASD) are complex neurodevelopmental conditions characterized by impairments in social cognition and repetitive behaviors with onset in early infancy. Deficits in emotion recognition, social perception, and communication have been identified as core symptoms of ASD.Comorbid disorders are frequent, namely psychiatric illness, epilepsy, sleep disruption, and hyperactivity.Immune profile changes during early life may contribute to pathogenesis of ASD. Other risk factors include advanced parental age, fetal environment, fertility treatments, medications, and nutritional and toxic factors.Several brain regions are involved in the pathophysiology of ASD but the cerebellum is the structure most consistently found altered. An increased risk of ASD is associated with cerebellar damage.ObjectivesTo highlight the importance of understanding the key processes of cerebellar development and how altered cerebellar function leads to social and cognitive impairments, and consequently ASD.MethodsNon-systematic review of the literature using Pubmed database. Papers were selected according to their relevance.ResultsFrom imaging studies, we can understand that cerebellum is not just about motor function. Different tasks like adding working memory, emotional and social processing, and language seem to be part of core functions of the cerebellar circuit.Adults with lesions in the cerebellum can develop cerebellar cognitive affective syndrome (CCAS), with core symptoms of impaired executive function, difficulties in spatial cognition, blunted affect, or inappropriate behavior. Some children who have tumor resection surgery for medulloblastomas also exhibit symptoms of CCAS, and some experience posterior fossa syndrome (PFS).The linguistic, cognitive, and behavioral deficits in CCAS and PFS may contribute to explaining how cerebellar alterations are related to ASD, which is a neurodevelopmental disorder characterized by an earlier onset and broader spectrum of these symptoms.ConclusionsThe literature has suggested an important role for cerebellar dysfunction in etiology of ASD, under certain premises: (a) cerebellar expansion temporarily coincides with onset of ASD; (b) cerebellum is prone to lesions during this period; (3) cerebellar lesions contribute to dysfunctional social and language abilities.Disturbances in cerebellar development lead to alterations in higher cognitive functions, due to changes in Purkinje cells. These dysfunctional neurons, once integrated into a brain circuit that controls complex tasks, lead to these functions becoming aberrant.It is therefore fair to say that cerebellum is important for development of the so-called “cognitive and social brain” since it is itself part of this network. So, the cerebellum certainly plays a relevant role in pathophysiology of ASD.Disclosure of InterestNone Declared

A clinical case of anosognosia in a CADASIL disease.

IntroductionCADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a cerebrovascular disease, tht appears in 1.98/100,000. It´s caused by a mutation of the Notch3 gene and is characterized by accumulation of granular osmiophilic material in the middle layer of the small and median sized cerebral arteries.Sypmtoms are migraine, recurrent cerebral ischemic episodes, dementia, neuropsychiatric disorders (anosognosia, character disorders, apathy and cognitive impairment). It usually appears between 30-60 years, although there is an important variability. There is no curative treatment, only palliative.ObjectivesClinical review of anosognosia and its presence in CADASIL disease.MethodsClinical case and literatura review.ResultsWe presented the clinical case of a 68-year-old man, who was diagnosed with CADASIL after a stroke 3 years earlier. In his family, his brother was diagnosed also with CADASIL. The patient had previously presented disturbances in impulse control (hyperorality) and important executive failures. He currently presented anosognosia, deficits in verbal memory, spatial perception and executive functions, in addition to behavioral alterations and apathy. Due to these deficits he was prohibited from certain activities (driving, hunting).The patient was not aware of these deficits and becouse of his “no knowledge of his illness”, he disagreed with these prohibitions, so he showed rage and anger at the impotence of not understanding why certain actions are prohibited.In the consultation, mnesic errors and in naming objects were also objectified, for which it was recommended to carry out cognitive stimulation on a daily basis. In addition, he presented failures of sphincter incontinence, especially of urine and occasionally also of the anal sphincter. He had previously had episodes of myoclonus or fasciculations.A genetic study by massive sequencing confirmed the heterozygous presence of the pathogenic variant c.1819C>T p.(Arg607Cys) in the NOTCH3 gene, a CADASIL disease.ConclusionsThe anosognosia that many patients with CADASIL disease present constitutes a problem because it contributes to the delay in consultation and, therefore, the delay in the adequate diagnostic approach, therapeutic possibilities and family genetic counseling. Due in part to anosognosia, CADASIL is considered an underdiagnosed entity. Due to the lack of awareness and the consequent lack of recognition of the deficit, these people are often seen as stubborn and difficult to deal with by people in their immediate environment.In addition, there is general difficulty in the rehabilitation process, since patients do not think the neccesity to be treated. This can generate frustration and despair both in their relatives and in the health personnel.For all these reasons, both in anosognosia and in CADASIL disease, adequate psychological support is needed for both those affected and their families.Disclosure of InterestNone Declared

Utilizing auditory emotion bio-markers, the underpinning of emotion perception improvement in cochlear implant users

Cochlear implants (CI) have had tremendous success restoring a sense of hearing in the deaf. However, even after months of intensive rehabilitation, many CI users struggle with appreciating emotive tones in speech and music despite good speech comprehension. Failure to perceive emotional expression can result in maladjusted social behaviour, leading to detrimental socio-economic consequences. Recent advances in automated pattern identification of neuroimaging data can bring empirical support to developing training programs for emotion perception rehabilitation in CI users. We used a machine-learning approach to identify emotion-processing bio-markers in high-density electroencephalograms collected from CI users (22) and matched normal-hearing controls (22). Participants’ brain responses elicited by short musical and vocal emotional (happy, sad, and neutral) stimuli were used to train an algorithm to help identify, in each group, the pattern of brain responses that can best predict the presented emotion. Using this approach, we were able to confirm the presence of emotion-specific patterns of brain activity in CI users despite their reported emotion perception deficit. Identifying these patterns brings forward support for implementing a rehabilitation program for emotion perception for this population; if an algorithm can differentiate aurally presented emotions, perhaps CI users can learn to discriminate emotions.

Gamma oscillations point to the role of primary visual cortex in atypical motion processing in autism.

Neurophysiological studies suggest that abnormal neural inhibition may explain a range of sensory processing differences in autism spectrum disorders (ASD). In particular, the impaired ability of people with ASD to visually discriminate the motion direction of small-size objects and their reduced perceptual suppression of background-like visual motion may stem from deficient surround inhibition within the primary visual cortex (V1) and/or its atypical top-down modulation by higher-tier cortical areas. In this study, we estimate the contribution of abnormal surround inhibition to the motion-processing deficit in ASD. For this purpose, we used a putative correlate of surround inhibition-suppression of the magnetoencephalographic (MEG) gamma response (GR) caused by an increase in the drift rate of a large annular high-contrast grating. The motion direction discrimination thresholds for the gratings of different angular sizes (1° and 12°) were assessed in a separate psychophysical paradigm. The MEG data were collected in 42 boys with ASD and 37 typically developing (TD) boys aged 7-15 years. Psychophysical data were available in 33 and 34 of these participants, respectively. The results showed that the GR suppression in V1 was reduced in boys with ASD, while their ability to detect the direction of motion was compromised only in the case of small stimuli. In TD boys, the GR suppression directly correlated with perceptual suppression caused by increasing stimulus size, thus suggesting the role of the top-down modulations of V1 in surround inhibition. In ASD, weaker GR suppression was associated with the poor directional sensitivity to small stimuli, but not with perceptual suppression. These results strongly suggest that a local inhibitory deficit in V1 plays an important role in the reduction of directional sensitivity in ASD and that this perceptual deficit cannot be explained exclusively by atypical top-down modulation of V1 by higher-tier cortical areas.