Narrativas de mães de crianças cegas congênitas sobre itinerários terapêuticos, arranjos de cuidados e experiências maternas: uma pesquisa no Instituto Benjamin Constant / Narratives of mothers of congenitally blind children on therapeutic pathways, care arrangements and maternal experiences: a study at the Benjamin Constant Institute

O objetivo da tese é analisar as narrativas de oito mães de crianças cegas congênitas, matriculadas no Instituto Benjamin Constant. O estudo abrange itinerários terapêuticos, arranjos de cuidados e experiências maternas. Utilizaram-se os postulados teóricos sobre narrativas de Ricoeur e a análise foi feita sob o marco teórico de Bardin. Optou-se pelo itinerário terapêutico como método de pesquisa, por valorizar as histórias de vidas das mães que participaram da pesquisa. A narrativa reforçou a utilização de metodologias participativas e inclusivas, baseadas no respeito, na solidariedade e na cooperação. As narrativas mostraram que as mães, após o primeiro itinerário, que é na maternidade, encontram na figura do médico pediatra o auxílio que as orienta sobre quais os itinerários a percorrer. Em seguida, elas procuram o oftalmologista, mais especificamente o retinólogo e, também, o neuropediatra. A chegada ao IBC acontece depois da confirmação derradeira da cegueira do filho. As mães das crianças e adolescentes matriculados no IBC permanecem no espaço do Instituto, diariamente, enquanto seus filhos estão em aula ou em algum atendimento. Essa permanência se justifica por razão da distância entre o IBC e suas casas. A espera permite compartilharem, com outras mães, situações vivenciadas para o fortalecimento de vínculos de afetos, mas também existem tensões. O estudo apontou, ainda, que o discurso iatrogênico, com palavras ou ações de alguns médicos, causou ansiedade, desconfiança, confusão e sentimento de desrespeito. Outro dado relevante, encontrado por meio das narrativas, foi a dificuldade que encontraram ao transitarem nos espaços públicos com seus filhos, por causa de barreiras atitudinais. Ainda segundo as narrativas, o cuidado que elas dispensam quase que integralmente aos seus filhos (as), apesar de toda a sobrecarga que relatam, não é considerado um trabalho, pelo fato de não ser remunerado. As mães entendem que a tarefa de cuidar é um ato de amor para com o filho e, não, um trabalho. Por fim, a pesquisa também investigou os impactos que a pandemia de COVID 19 ocasionou nas vidas das mães e de seus filhos, surgindo como principais desafios o afastamento do espaço da escola e o manejo das aulas on-line. (AU)

The objective of the thesis is to study the narratives of eight mothers of congenitally blind children enrolled at the Benjamin Constant Institute. The study covers therapeutic journeys, care arrangements, and maternal experiences. Theoretical postulates on narratives by Ricoeur were utilized, and the analysis was conducted within the theoretical framework of Bardin. The therapeutic journey was chosen as the research method, as it values the life stories of the participating mothers. The narrative reinforced the use of participatory and inclusive methodologies based on respect, solidarity, and cooperation. The narratives showed that mothers, after the initial journey in maternity, seek guidance from pediatricians on the paths to take. They then consult ophthalmologists, specifically retinologists, and neuropediatricians. Arrival at the IBC occurs after the final confirmation of the child's blindness. Mothers of children and adolescents enrolled at the IBC stay at the Institute daily while their children are in class or receiving some form of assistance. This stay is due to the distance between the IBC and their homes. Waiting allows them to share experiences with other mothers, strengthening emotional bonds, but tensions also exist. The study also pointed out that iatrogenic discourse, with words or actions from some doctors, caused anxiety, mistrust, confusion, and feelings of disrespect. Another significant finding from the narratives was the difficulty they encountered when navigating public spaces with their children due to attitudinal barriers. According to the narratives, the care they provide to their children, despite the reported burden, is not considered work because it is unpaid. Mothers view caregiving as an act of love for their children, not as a job. Finally, the research also investigated the impacts of the COVID-19 pandemic on the lives of the mothers and their children, with the main challenges being the separation from the school environment and the management of online classes. (AU)

Decoding Natural Sounds in Early "Visual" Cortex of Congenitally Blind Individuals.

Complex natural sounds, such as bird singing, people talking, or traffic noise, induce decodable fMRI activation patterns in early visual cortex of sighted blindfolded participants [1]. That is, early visual cortex receives non-visual and potentially predictive information from audition. However, it is unclear whether the transfer of auditory information to early visual areas is an epiphenomenon of visual imagery or, alternatively, whether it is driven by mechanisms independent from visual experience. Here, we show that we can decode natural sounds from activity patterns in early "visual" areas of congenitally blind individuals who lack visual imagery. Thus, visual imagery is not a prerequisite of auditory feedback to early visual cortex. Furthermore, the spatial pattern of sound decoding accuracy in early visual cortex was remarkably similar in blind and sighted individuals, with an increasing decoding accuracy gradient from foveal to peripheral regions. This suggests that the typical organization by eccentricity of early visual cortex develops for auditory feedback, even in the lifelong absence of vision. The same feedback to early visual cortex might support visual perception in the sighted [1] and drive the recruitment of this area for non-visual functions in blind individuals [2, 3].

Reorganization of Sound Location Processing in the Auditory Cortex of Blind Humans.

Auditory spatial tasks induce functional activation in the occipital-visual-cortex of early blind humans. Less is known about the effects of blindness on auditory spatial processing in the temporal-auditory-cortex. Here, we investigated spatial (azimuth) processing in congenitally and early blind humans with a phase-encoding functional magnetic resonance imaging (fMRI) paradigm. Our results show that functional activation in response to sounds in general-independent of sound location-was stronger in the occipital cortex but reduced in the medial temporal cortex of blind participants in comparison with sighted participants. Additionally, activation patterns for binaural spatial processing were different for sighted and blind participants in planum temporale. Finally, fMRI responses in the auditory cortex of blind individuals carried less information on sound azimuth position than those in sighted individuals, as assessed with a 2-channel, opponent coding model for the cortical representation of sound azimuth. These results indicate that early visual deprivation results in reorganization of binaural spatial processing in the auditory cortex and that blind individuals may rely on alternative mechanisms for processing azimuth position.

Unique Features of Subcortical Circuits in a Macaque Model of Congenital Blindness.

There is an extensive modification of the functional organization of the brain in the congenital blind human, although there is little understanding of the structural underpinnings of these changes. The visual system of macaque has been extensively characterized both anatomically and functionally. We have taken advantage of this to examine the influence of congenital blindness in a macaque model of developmental anophthalmia. Developmental anophthalmia in macaque effectively removes the normal influence of the thalamus on cortical development leading to an induced "hybrid cortex (HC)" combining features of primary visual and extrastriate cortex. Here we show that retrograde tracers injected in early visual areas, including HC, reveal a drastic reduction of cortical projections of the reduced lateral geniculate nucleus. In addition, there is an important expansion of projections from the pulvinar complex to the HC, compared to the controls. These findings show that the functional consequences of congenital blindness need to be considered in terms of both modifications of the interareal cortical network and the ascending visual pathways.

A thalamocortical pathway for fast rerouting of tactile information to occipital cortex in congenital blindness.

In congenitally blind individuals, the occipital cortex responds to various nonvisual inputs. Some animal studies raise the possibility that a subcortical pathway allows fast re-routing of tactile information to the occipital cortex, but this has not been shown in humans. Here we show using magnetoencephalography (MEG) that tactile stimulation produces occipital cortex activations, starting as early as 35 ms in congenitally blind individuals, but not in blindfolded sighted controls. Given our measured thalamic response latencies of 20 ms and a mean estimated lateral geniculate nucleus to primary visual cortex transfer time of 15 ms, we claim that this early occipital response is mediated by a direct thalamo-cortical pathway. We also observed stronger directed connectivity in the alpha band range from posterior thalamus to occipital cortex in congenitally blind participants. Our results strongly suggest the contribution of a fast thalamo-cortical pathway in the cross-modal activation of the occipital cortex in congenitally blind humans.

Naturalistic Audio-Movies and Narrative Synchronize "Visual" Cortices across Congenitally Blind But Not Sighted Individuals.

How does developmental experience, as opposed to intrinsic physiology, shape cortical function? Naturalistic stimuli were used to elicit neural synchrony in individuals blind from birth (n = 18) and those who grew up with sight (n = 18). Blind and blindfolded sighted participants passively listened to three audio-movie clips, an auditory narrative, a sentence shuffled version of the narrative (maintaining language but lacking a plotline), and a version of the narrative backward (lacking both language and plot). For both groups, early auditory cortices were synchronized to a similar degree across stimulus types, whereas higher-cognitive temporoparietal and prefrontal areas were more synchronized by meaningful, temporally extended stimuli (i.e., audio movies and narrative). "Visual" cortices were more synchronized across blind than sighted individuals, but only for audio-movies and narrative. In the blind group, visual cortex synchrony was low for backward speech and intermediate for sentence shuffle. Meaningful auditory stimuli synchronize visual cortices of people born blind.SIGNIFICANCE STATEMENT Naturalistic stimuli engage cognitive processing at many levels. Here, we harnessed this richness to investigate the effect of experience on cortical function. We find that listening to naturalistic audio movies and narrative drives synchronized activity across "visual" cortices of blind, more so than sighted, individuals. Visual cortex synchronization varies with meaningfulness and cognitive complexity. Higher synchrony is observed for temporally extended meaningful stimuli (e.g., movies/narrative), intermediate for shuffled sentences, lowest for time varying complex noise. By contrast, auditory cortex was synchronized equally by meaningful and meaningless stimuli. In congenitally blind individuals most of visual cortex is engaged by meaningful naturalistic stimuli.

Working memory training integrates visual cortex into beta-band networks in congenitally blind individuals.

Congenitally blind individuals have been shown to activate the visual cortex during non-visual tasks. The neuronal mechanisms of such cross-modal activation are not fully understood. Here, we used an auditory working memory training paradigm in congenitally blind and in sighted adults. We hypothesized that the visual cortex gets integrated into auditory working memory networks, after these networks have been challenged by training. The spectral profile of functional networks was investigated which mediate cross-modal reorganization following visual deprivation. A training induced integration of visual cortex into task-related networks in congenitally blind individuals was expected to result in changes in long-range functional connectivity in the theta-, beta- and gamma band (imaginary coherency) between visual cortex and working memory networks. Magnetoencephalographic data were recorded in congenitally blind and sighted individuals during resting state as well as during a voice-based working memory task; the task was performed before and after working memory training with either auditory or tactile stimuli, or a control condition. Auditory working memory training strengthened theta-band (2.5-5 Hz) connectivity in the sighted and beta-band (17.5-22.5 Hz) connectivity in the blind. In sighted participants, theta-band connectivity increased between brain areas typically involved in auditory working memory (inferior frontal, superior temporal, insular cortex). In blind participants, beta-band networks largely emerged during the training, and connectivity increased between brain areas involved in auditory working memory and as predicted, the visual cortex. Our findings highlight long-range connectivity as a key mechanism of functional reorganization following congenital blindness, and provide new insights into the spectral characteristics of functional network connectivity.

Thalamocortical Connectivity and Microstructural Changes in Congenital and Late Blindness.

There is ample evidence that the occipital cortex of congenitally blind individuals processes nonvisual information. It remains a debate whether the cross-modal activation of the occipital cortex is mediated through the modulation of preexisting corticocortical projections or the reorganisation of thalamocortical connectivity. Current knowledge on this topic largely stems from anatomical studies in animal models. The aim of this study was to test whether purported changes in thalamocortical connectivity in blindness can be revealed by tractography based on diffusion-weighted magnetic resonance imaging. To assess the thalamocortical network, we used a clustering method based on the thalamic white matter projections towards predefined cortical regions. Five thalamic clusters were obtained in each group representing their cortical projections. Although we did not find differences in the thalamocortical network between congenitally blind individuals, late blind individuals, and normal sighted controls, diffusion tensor imaging (DTI) indices revealed significant microstructural changes within thalamic clusters of both blind groups. Furthermore, we find a significant decrease in fractional anisotropy (FA) in occipital and temporal thalamocortical projections in both blind groups that were not captured at the network level. This suggests that plastic microstructural changes have taken place, but not in a degree to be reflected in the tractography-based thalamocortical network.

Enhanced verbal abilities in the congenitally blind.

Numerous studies have found that congenitally blind individuals have better verbal memory than their normally sighted counterparts. However, it is not known whether this reflects superiority of verbal or memory abilities. In order to distinguish between these possibilities, we tested congenitally blind participants and normally sighted control participants, matched for age and education, on a range of verbal and spatial tasks. Congenitally blind participants were significantly better than sighted controls on all the verbal tasks but the groups did not differ significantly on the spatial tasks. Thus, the congenitally blind appear to have superior verbal, but not spatial, abilities. This may reflect greater reliance on verbal information and the involvement of visual cortex in language processing in the congenitally blind.

Congenital blindness affects diencephalic but not mesencephalic structures in the human brain.

While there is ample evidence that the structure and function of visual cortical areas are affected by early visual deprivation, little is known of how early blindness modifies subcortical relay and association thalamic nuclei, as well as mesencephalic structures. Therefore, in the present multicenter study, we used MRI to measure volume of the superior and inferior colliculi, as well as of the thalamic nuclei relaying sensory and motor information to the neocortex, parcellated according to atlas-based thalamo-cortical connections, in 29 individuals with congenital blindness of peripheral origin (17 M, age 35.7 ± 14.3 years) and 29 sighted subjects (17 M, age 31.9 ± 9.0). Blind participants showed an overall volume reduction in the left (p = 0.008) and right (p = 0.007) thalami, as compared to the sighted individuals. Specifically, the lateral geniculate (i.e., primary visual thalamic relay nucleus) was 40% reduced (left: p = 4 × 10(-6), right: p < 1 × 10(-6)), consistent with findings from animal studies. In addition, associated thalamic nuclei that project to temporal (left: p = 0.005, right: p = 0.005), prefrontal (left: p = 0.010, right: p = 0.014), occipital (left: p = 0.005, right: p = 0.023), and right premotor (p = 0.024) cortical regions were also significantly reduced in the congenitally blind group. Conversely, volumes of the relay nuclei directly involved in auditory, motor, and somatosensory processing were not affected by visual deprivation. In contrast, no difference in volume was observed in either the superior or the inferior colliculus between the two groups. Our findings indicate that visual loss since birth leads to selective volumetric changes within diencephalic, but not mesencephalic, structures. Both changes in reciprocal cortico-thalamic connections or modifications in the intrinsic connectivity between relay and association nuclei of the thalamus may contribute to explain these alterations in thalamic volumes. Sparing of the superior colliculi is in line with their composite, multisensory projections, and with their not exclusive visual nature.

Neural plasticity of voice processing: Evidence from event-related potentials in late-onset blind and sighted individuals.

PURPOSE: Intra- and crossmodal neuroplasticity have been reported to underlie superior voice processing skills in congenitally blind individuals. The present study used event-related potentials (ERPs) in order to test if such compensatory plasticity is limited to the developing brain. METHODS: Late blind individuals were compared to sighted controls in their ability to identify human voices. A priming paradigm was employed in which two successive voices (S1, S2) of the same (person-congruent) or different speakers (person-incongruent) were presented. Participants made an old-young decision on the S2. RESULTS: In both groups ERPs to the auditory S2 were more negative in person-incongruent than in person-congruent trials between 200-300 ms. A topographic analysis suggested a more posteriorly shifted distribution of the Person Match effect (person-incongruent minus person-congruent trials) in late blind individuals compared to sighted controls. CONCLUSION: In contrast to congenitally blind individuals, late blind individuals did not show an early Person Match effect in the time range of the N1, suggesting that crossmodal compensation is mediated by later processing steps rather than by changes at early perceptual levels.

Touching words is not enough: how visual experience influences haptic-auditory associations in the "Bouba-Kiki" effect.

Since Köhler's experiments in the 1920s, researchers have demonstrated a correspondence between words and shapes. Dubbed the "Bouba-Kiki" effect, these auditory-visual associations extend across cultures and are thought to be universal. More recently the effect has been shown in other modalities including taste, suggesting the effect is independent of vision. The study presented here tested the "Bouba-Kiki" effect in the auditory-haptic modalities, using 2D cut-outs and 3D models based on Köhler's original drawings. Presented with shapes they could feel but not see, sighted participants showed a robust "Bouba-Kiki" effect. However, in a sample of people with a range of visual impairments, from congenital total blindness to partial sight, the effect was significantly less pronounced. The findings suggest that, in the absence of a direct visual stimulus, visual imagery plays a role in crossmodal integration.

Improvement in spatial imagery following sight onset late in childhood.

The factors contributing to the development of spatial imagery skills are not well understood. Here, we consider whether visual experience shapes these skills. Although differences in spatial imagery between sighted and blind individuals have been reported, it is unclear whether these differences are truly due to visual deprivation or instead are due to extraneous factors, such as reduced opportunities for the blind to interact with their environment. A direct way of assessing vision's contribution to the development of spatial imagery is to determine whether spatial imagery skills change soon after the onset of sight in congenitally blind individuals. We tested 10 children who gained sight after several years of congenital blindness and found significant improvements in their spatial imagery skills following sight-restoring surgeries. These results provide evidence of vision's contribution to spatial imagery and also have implications for the nature of internal spatial representations.

Acoustic and articulatory analysis of French vowels produced by congenitally blind adults and sighted adults.

In a previous paper [Ménard et al., J. Acoust. Soc. Am. 126, 1406-1414 (2009)], it was demonstrated that, despite enhanced auditory discrimination abilities for synthesized vowels, blind adult French speakers produced vowels that were closer together in the acoustic space than those produced by sighted adult French speakers, suggesting finer control of speech production in the sighted speakers. The goal of the present study is to further investigate the articulatory effects of visual deprivation on vowels produced by 11 blind and 11 sighted adult French speakers. Synchronous ultrasound, acoustic, and video recordings of the participants articulating the ten French oral vowels were made. Results show that sighted speakers produce vowels that are spaced significantly farther apart in the acoustic vowel space than blind speakers. Furthermore, blind speakers use smaller differences in lip protrusion but larger differences in tongue position and shape than their sighted peers to produce rounding and place of articulation contrasts. Trade-offs between lip and tongue positions were examined. Results are discussed in the light of the perception-for-action control theory.

BLIND: a set of semantic feature norms from the congenitally blind.

Feature-based descriptions of concepts produced by subjects in a property generation task are widely used in cognitive science to develop empirically grounded concept representations and to study systematic trends in such representations. This article introduces BLIND, a collection of parallel semantic norms collected from a group of congenitally blind Italian subjects and comparable sighted subjects. The BLIND norms comprise descriptions of 50 nouns and 20 verbs. All the materials have been semantically annotated and translated into English, to make them easily accessible to the scientific community. The article also presents a preliminary analysis of the BLIND data that highlights both the large degree of overlap between the groups and interesting differences. The complete BLIND norms are freely available and can be downloaded from http://sesia.humnet.unipi.it/blind_data .

The superiority in voice processing of the blind arises from neural plasticity at sensory processing stages.

Blind people rely much more on voices compared to sighted individuals when identifying other people. Previous research has suggested a faster processing of auditory input in blind individuals than sighted controls and an enhanced activation of temporal cortical regions during voice processing. The present study used event-related potentials (ERPs) to single out the sub-processes of auditory person identification that change and allow for superior voice processing after congenital blindness. A priming paradigm was employed in which two successive voices (S1 and S2) of either the same (50% of the trials) or different actors were presented. Congenitally blind and matched sighted participants made an old-young decision on the S2. During the pre-experimental familiarization with the stimuli, congenitally blind individuals showed faster learning rates than sighted controls. Reaction times were shorter in person-congruent trials than in person-incongruent trials in both groups. ERPs to S2 stimuli in person-incongruent as compared to person-congruent trials were significantly enhanced at early processing stages (100-160 ms) in congenitally blind participants only. A later negative ERP effect (>200 ms) was found in both groups. The scalp topographies of the experimental effects were characterized by a central and parietal distribution in the sighted but a more posterior distribution in the congenitally blind. These results provide evidence for an improvement of early voice processing stages and a reorganization of the person identification system as a neural correlate of compensatory behavioral improvements following congenital blindness.

'Visual' acuity of the congenitally blind using visual-to-auditory sensory substitution.

Sensory Substitution Devices (SSDs) convey visual information through sounds or touch, thus theoretically enabling a form of visual rehabilitation in the blind. However, for clinical use, these devices must provide fine-detailed visual information which was not yet shown for this or other means of visual restoration. To test the possible functional acuity conveyed by such devices, we used the Snellen acuity test conveyed through a high-resolution visual-to-auditory SSD (The vOICe). We show that congenitally fully blind adults can exceed the World Health Organization (WHO) blindness acuity threshold using SSDs, reaching the highest acuity reported yet with any visual rehabilitation approach. This demonstrates the potential capacity of SSDs as inexpensive, non-invasive visual rehabilitation aids, alone or when supplementing visual prostheses.

A sensitive period for language in the visual cortex: distinct patterns of plasticity in congenitally versus late blind adults.

Recent evidence suggests that blindness enables visual circuits to contribute to language processing. We examined whether this dramatic functional plasticity has a sensitive period. BOLD fMRI signal was measured in congenitally blind, late blind (blindness onset 9-years-old or later) and sighted participants while they performed a sentence comprehension task. In a control condition, participants listened to backwards speech and made match/non-match to sample judgments. In both congenitally and late blind participants BOLD signal increased in bilateral foveal-pericalcarine cortex during response preparation, irrespective of whether the stimulus was a sentence or backwards speech. However, left occipital areas (pericalcarine, extrastriate, fusiform and lateral) responded more to sentences than backwards speech only in congenitally blind people. We conclude that age of blindness onset constrains the non-visual functions of occipital cortex: while plasticity is present in both congenitally and late blind individuals, recruitment of visual circuits for language depends on blindness during childhood.

Action perception in individuals with congenital blindness or deafness: how does the loss of a sensory modality from birth affect perception-induced motor facilitation?

Seeing or hearing manual actions activates the mirror neuron system, that is, specialized neurons within motor areas which fire when an action is performed but also when it is passively perceived. Using TMS, it was shown that motor cortex of typically developed subjects becomes facilitated not only from seeing others' actions, but also from merely hearing action-related sounds. In the present study, TMS was used for the first time to explore the "auditory" and "visual" responsiveness of motor cortex in individuals with congenital blindness or deafness. TMS was applied over left primary motor cortex (M1) to measure cortico-motor facilitation while subjects passively perceived manual actions (either visually or aurally). Although largely unexpected, congenitally blind or deaf subjects displayed substantially lower resonant motor facilitation upon action perception compared to seeing/hearing control subjects. Moreover, muscle-specific changes in cortico-motor excitability within M1 appeared to be absent in individuals with profound blindness or deafness. Overall, these findings strongly argue against the hypothesis that an increased reliance on the remaining sensory modality in blind or deaf subjects is accompanied by an increased responsiveness of the "auditory" or "visual" perceptual-motor "mirror" system, respectively. Moreover, the apparent lack of resonant motor facilitation for the blind and deaf subjects may challenge the hypothesis of a unitary mirror system underlying human action recognition and may suggest that action perception in blind and deaf subjects engages a mode of action processing that is different from the human action recognition system recruited in typically developed subjects.

Neural representation of self-concept in sighted and congenitally blind adults.

The functional organization of human primary visual and auditory cortices is influenced by sensory experience and exhibits cross-modal plasticity in the absence of input from one modality. However, it remains debated whether the functional architecture of the prefrontal cortex, when engaged in social cognitive processes, is shaped by sensory experience. The present study investigated whether activity in the medial prefrontal cortex underlying self-reflective thinking of one's own traits is modality-specific and whether it undergoes cross-modal plasticity in the absence of visual input. We scanned 47 sighted participants and 21 congenitally blind individuals using functional magnetic resonance imaging during trait judgements of the self and a familiar other. Sighted participants showed medial prefrontal activation and enhanced functional connectivity between the medial prefrontal and visual cortices during self-judgements compared to other-judgements on visually but not aurally presented trait words, indicating that medial prefrontal activity underlying self-representation is visual modality-specific in sighted people. In contrast, blind individuals showed medial prefrontal activation and enhanced functional connectivity between the medial prefrontal and occipital cortices during self-judgements relative to other-judgements on aurally presented stimuli, suggesting that visual deprivation leads to functional reorganization of the medial prefrontal cortex so as to be tuned by auditory inputs during self-referential processing. The medial prefrontal activity predicted memory performances on trait words used for self-judgements in both subject groups, implicating a similar functional role of the medial prefrontal cortex in self-referential processing in sighted and blind individuals. Together, our findings indicate that self-representation in the medial prefrontal cortex is strongly shaped by sensory experience.