The effect of prior visual information on recognition of speech and sounds

To identify and categorize complex stimuli such as familiar objects or speech, the human brain integrates information that is abstracted at multiple levels from its sensory inputs. Using cross-modal priming for spoken words and sounds, this functional magnetic resonance imaging study identified 3 distinct classes of visuoauditory incongruency effects: visuoauditory incongruency effects were selective for 1) spoken words in the left superior temporal sulcus (STS), 2) environmental sounds in the left angular gyrus (AG), and 3) both words and sounds in the lateral and medial prefrontal cortices (IFS/mPFC). From a cognitive perspective, these incongruency effects suggest that prior visual information influences the neural processes underlying speech and sound recognition at multiple levels, with the STS being involved in phonological, AG in semantic, and mPFC/IFS in higher conceptual processing. In terms of neural mechanisms, effective connectivity analyses (dynamic causal modeling) suggest that these incongruency effects may emerge via greater bottom-up effects from early auditory regions to intermediate multisensory integration areas (i.e., STS and AG). This is consistent with a predictive coding perspective on hierarchical Bayesian inference in the cortex where the domain of the prediction error (phonological vs. semantic) determines its regional expression (middle temporal gyrus/STS vs. AG/intraparietal sulcus).

A hierarchical model of goal directed navigation selects trajectories in a visual environment

We have developed a Hierarchical Look-Ahead Trajectory Model (HiLAM) that incorporates the firing pattern of medial entorhinal grid cells in a planning circuit that includes interactions with hippocampus and prefrontal cortex. We show the model’s flexibility in representing large real world environments using odometry information obtained from challenging video sequences. We acquire the visual data from a camera mounted on a small tele-operated vehicle. The camera has a panoramic field of view with its focal point approximately 5 cm above the ground level, similar to what would be expected from a rat’s point of view. Using established algorithms for calculating perceptual speed from the apparent rate of visual change over time, we generate raw dead reckoning information which loses spatial fidelity over time due to error accumulation. We rectify the loss of fidelity by exploiting the loop-closure detection ability of a biologically inspired, robot navigation model termed RatSLAM. The rectified motion information serves as a velocity input to the HiLAM to encode the environment in the form of grid cell and place cell maps. Finally, we show goal directed path planning results of HiLAM in two different environments, an indoor square maze used in rodent experiments and an outdoor arena more than two orders of magnitude larger than the indoor maze. Together these results bridge for the first time the gap between higher fidelity bio-inspired navigation models (HiLAM) and more abstracted but highly functional bio-inspired robotic mapping systems (RatSLAM), and move from simulated environments into real-world studies in rodent-sized arenas and beyond.

Effect of rod-cone interactions on mesopic visual performance mediated by chromatic and luminance pathways

We studied the effect of rod–cone interactions on mesopic visual reaction time (RT). Rod and cone photoreceptor excitations were independently controlled using a four-primary photostimulator. It was observed that (1) lateral rod–cone interactions increase the cone-mediated RTs; (2) the rod–cone interactions are strongest when rod sensitivity is maximal in a dark surround, but weaker with increased rod activity in a light surround; and (3) the presence of a dark surround nonselectively increased the mean and variability of chromatic (+L-M, S-cone) and luminance (L+M+S) RTs independent of the level of rod activity. The results demonstrate that lateral rod–cone interactions must be considered when deriving mesopic luminous efficiency using RT.

Primary and secondary neural networks of auditory prepulse inhibition: a functional magnetic resonance imaging study of sensorimotor gating of the human acoustic startle response

Feedforward inhibition deficits have been consistently demonstrated in a range of neuropsychiatric conditions using prepulse inhibition (PPI) of the acoustic startle eye-blink reflex when assessing sensorimotor gating. While PPI can be recorded in acutely decerebrated rats, behavioural, pharmacological and psychophysiological studies suggest the involvement of a complex neural network extending from brainstem nuclei to higher order cortical areas. The current functional magnetic resonance imaging study investigated the neural network underlying PPI and its association with electromyographically (EMG) recorded PPI of the acoustic startle eye-blink reflex in 16 healthy volunteers. A sparse imaging design was employed to model signal changes in blood oxygenation level-dependent (BOLD) responses to acoustic startle probes that were preceded by a prepulse at 120 ms or 480 ms stimulus onset asynchrony or without prepulse. Sensorimotor gating was EMG confirmed for the 120-ms prepulse condition, while startle responses in the 480-ms prepulse condition did not differ from startle alone. Multiple regression analysis of BOLD contrasts identified activation in pons, thalamus, caudate nuclei, left angular gyrus and bilaterally in anterior cingulate, associated with EMGrecorded sensorimotor gating. Planned contrasts confirmed increased pons activation for startle alone vs 120-ms prepulse condition, while increased anterior superior frontal gyrus activation was confirmed for the reverse contrast. Our findings are consistent with a primary pontine circuitry of sensorimotor gating that interconnects with inferior parietal, superior temporal, frontal and prefrontal cortices via thalamus and striatum. PPI processes in the prefrontal, frontal and superior temporal cortex were functionally distinct from sensorimotor gating.

Exploring with Grammar in the Primary Years: Learning about Language in the Australian Curriculum: English

This new volume, Exploring with Grammar in the Primary Years (Exley, Kevin & Mantei, 2014), follows on from Playing with Grammar in the Early Years (Exley & Kervin, 2013). We extend our thanks to the ALEA membership for their take up of the first volume and the vibrant conversations around our first attempt at developing a pedagogy for the teaching of grammar in the early years. Your engagement at locally held ALEA events has motivated us to complete this second volume and reassert our interest in the pursuit of socially-just outcomes in the primary years. As noted in Exley and Kervin (2013), we believe that mastering a range of literacy competences includes not only the technical skills for learning, but also the resources for viewing and constructing the world (Freire and Macdeo, 1987). Rather than seeing knowledge about language as the accumulation of technical skills alone, the viewpoint to which we subscribe treats knowledge about language as a dialectic that evolves from, is situated in, and contributes to active participation within a social arena (Halliday, 1978). We acknowledge that to explore is to engage in processes of discovery as we look closely and examine the opportunities before us. As such, we draw on Janks’ (2000; 2014) critical literacy theory to underpin many of the learning experiences in this text. Janks (2000) argues that effective participation in society requires knowledge about how the power of language promotes views, beliefs and values of certain groups to the exclusion of others. Powerful language users can identify not only how readers are positioned by these views, but also the ways these views are conveyed through the design of the text, that is, the combination of vocabulary, syntax, image, movement and sound. Similarly, powerful designers of texts can make careful modal choices in written and visual design to promote certain perspectives that position readers and viewers in new ways to consider more diverse points of view. As the title of our text suggests, our activities are designed to support learners in exploring the design of texts to achieve certain purposes and to consider the potential for the sharing of their own views through text production. In Exploring with Grammar in the Primary Years, we focus on the Year 3 to Year 6 grouping in line with the Australian Curriculum, Assessment and Reporting Authority’s (hereafter ACARA) advice on the ‘nature of learners’ (ACARA, 2014). Our goal in this publication is to provide a range of highly practical strategies for scaffolding students’ learning through some of the Content Descriptions from the Australian Curriculum: English Version 7.2, hereafter AC:E (ACARA, 2014). We continue to express our belief in the power of using whole texts from a range of authentic sources including high quality children’s literature, the internet, and examples of community-based texts to expose students to the richness of language. Taking time to look at language patterns within actual texts is a pathway to ‘…capture interest, stir the imagination and absorb the [child]’ into the world of language and literacy (Saxby, 1993, p. 55). It is our intention to be more overt this time and send a stronger message that our learning experiences are simply ‘sample’ activities rather than a teachers’ workbook or a program of study to be followed. We’re hoping that teachers and students will continue to explore their bookshelves, the internet and their community for texts that provide powerful opportunities to engage with language-based learning experiences. In the following three sections, we have tried to remain faithful to our interpretation of the AC:E Content Descriptions without giving an exhaustive explanation of the grammatical terms. This recently released curriculum offers a new theoretical approach to building students’ knowledge about language. The AC:E uses selected traditional terms through an approach developed in systemic functional linguistics (see Halliday and Matthiessen, 2004) to highlight the dynamic forms and functions of multimodal language in texts. For example, the following statement, taken from the ‘Language: Knowing about the English language’ strand states: English uses standard grammatical terminology within a contextual framework, in which language choices are seen to vary according to the topics at hand, the nature and proximity of the relationships between the language users, and the modalities or channels of communication available (ACARA, 2014). Put simply, traditional grammar terms are used within a functional framework made up of field, tenor, and mode. An understanding of genre is noted with the reference to a ‘contextual framework’. The ‘topics at hand’ concern the field or subject matter of the text. The ‘relationships between the language users’ is a description of tenor. There is reference to ‘modalities’, such as spoken, written or visual text. We posit that this innovative approach is necessary for working with contemporary multimodal and cross-cultural texts (see Exley & Mills, 2012). Other excellent tomes, such as Derewianka (2011), Humphrey, Droga and Feez (2012), and Rossbridge and Rushton (2011) provide more comprehensive explanations of this unique metalanguage, as does the AC:E Glossary. We’ve reproduced some of the AC:E Glossary at the end of this publication. We’ve also kept the same layout for our learning experiences, ensuring that our teacher notes are not only succinct but also prudent in their placement. Each learning experience is connected to a Content Description from the AC:E and contains an experience with an identified purpose, suggested resource text and a possible sequence for the experience that always commences with an orientation to text followed by an examination of a particular grammatical resource. Our plans allow for focused discussion, shared exploration and opportunities to revisit the same text for the purpose of enhancing meaning making. Some learning experiences finish with deconstruction of a stimulus text while others invite students to engage in the design of new texts. We encourage you to look for opportunities in your own classrooms to move from text deconstruction to text design. In this way, students can express not only their emerging grammatical understandings, but also the ways they might position readers or viewers through the creation of their own texts. We expect that each of these learning experiences will vary in the time taken. Some may indeed take a couple if not a few teaching episodes to work through, especially if students are meeting a concept or a pedagogical strategy for the first time. We hope you use as much, or as little, of each experience as is needed for your students. We do not want the teaching of grammar to slip into a crisis of irrelevance or to be seen as a series of worksheet drills with finite answers. We firmly believe that strategies for effective deconstruction and design practice, however, have much portability. We three are very keen to hear from teachers who are adopting and adapting these learning experiences in their classrooms. Please email us on b.exley@qut.edu.au, lkervin@uow.edu.au or jessicam@ouw.edu.au. We’d love to continue the conversation with you over time. Beryl Exley, Lisa Kervin & Jessica Mantei

A visual profile of Queensland Indigenous children

Purpose Little is known about the prevalence of refractive error, binocular vision, and other visual conditions in Australian Indigenous children. This is important given the association of these visual conditions with reduced reading performance in the wider population, which may also contribute to the suboptimal reading performance reported in this population. The aim of this study was to develop a visual profile of Queensland Indigenous children. Methods Vision testing was performed on 595 primary schoolchildren in Queensland, Australia. Vision parameters measured included visual acuity, refractive error, color vision, nearpoint of convergence, horizontal heterophoria, fusional vergence range, accommodative facility, AC/A ratio, visual motor integration, and rapid automatized naming. Near heterophoria, nearpoint of convergence, and near fusional vergence range were used to classify convergence insufficiency (CI). Results Although refractive error (Indigenous, 10%; non-Indigenous, 16%; p = 0.04) and strabismus (Indigenous, 0%; non-Indigenous, 3%; p = 0.03) were significantly less common in Indigenous children, CI was twice as prevalent (Indigenous, 10%; non-Indigenous, 5%; p = 0.04). Reduced visual information processing skills were more common in Indigenous children (reduced visual motor integration [Indigenous, 28%; non-Indigenous, 16%; p < 0.01] and slower rapid automatized naming [Indigenous, 67%; non-Indigenous, 59%; p = 0.04]). The prevalence of visual impairment (reduced visual acuity) and color vision deficiency was similar between groups. Conclusions Indigenous children have less refractive error and strabismus than their non-Indigenous peers. However, CI and reduced visual information processing skills were more common in this group. Given that vision screenings primarily target visual acuity assessment and strabismus detection, this is an important finding as many Indigenous children with CI and reduced visual information processing may be missed. Emphasis should be placed on identifying children with CI and reduced visual information processing given the potential effect of these conditions on school performance

Developmental, functional brain imaging and electrophysiological evidence of visual and auditory working memory

Intact function of working memory (WM) is essential for children and adults to cope with every day life. Children with deficits in WM mechanisms have learning difficulties that are often accompanied by behavioral problems. The neural processes subserving WM, and brain structures underlying this system, continue to develop during childhood till adolescence and young adulthood. With functional magnetic resonance imaging (fMRI) it is possible to investigate the organization and development of WM. The present thesis aimed to investigate, using behavioral and neuroimaging methods, whether mnemonic processing of spatial and nonspatial visual information is segregated in the developing and mature human brain. A further aim in this research was to investigate the organization and development of audiospatial and visuospatial information processing in WM. The behavioral results showed that spatial and nonspatial visual WM processing is segregated in the adult brain. The fMRI result in children suggested that memory load related processing of spatial and nonspatial visual information engages common cortical networks, whereas selective attention to either type of stimuli recruits partially segregated areas in the frontal, parietal and occipital cortices. Deactivation mechanisms that are important in the performance of WM tasks in adults are already operational in healthy school-aged children. Electrophysiological evidence suggested segregated mnemonic processing of visual and auditory location information. The results of the development of audiospatial and visuospatial WM demonstrate that WM performance improves with age, suggesting functional maturation of underlying cognitive processes and brain areas. The development of the performance of spatial WM tasks follows a different time course in boys and girls indicating a larger degree of immaturity in the male than female WM systems. Furthermore, the differences in mastering auditory and visual WM tasks may indicate that visual WM reaches functional maturity earlier than the corresponding auditory system. Spatial WM deficits may underlie some learning difficulties and behavioral problems related to impulsivity, difficulties in concentration, and hyperactivity. Alternatively, anxiety or depressive symptoms may affect WM function and the ability to concentrate, being thus the primary cause of poor academic achievement in children.

Water bottles from China: Decoding visual grammar

On the ALEA Study Tour to China, Beryl Exley and her roomie Kathryn O’Sullivan pondered over their first night dilemma whilst staying at a hotel in Beijing. They read the room service guide (in English) which advised against drinking the tap water and confirming the supply of one bottle of complementary water per guest per day. The room service guide listed ‘special’ bottled water was the equivalent of $AUS7 per bottle. However the dilemma was this: sitting on the shelf above the fridge were three different kinds of water-like bottles. Each had a different label, written mainly in Chinese characters. Not wanting to mistake the bottles, Beryl and Kathryn set about decoding the text of the three bottles in question.

Molecular genetics of primary open angle glaucoma and exfoliation syndrome

Glaucoma is the second leading cause of blindness worldwide. It is a group of optic neuropathies, characterized by progressive optic nerve degeneration, excavation of the optic disc due to apoptosis of retinal ganglion cells and corresponding visual field defects. Open angle glaucoma (OAG) is a subtype of glaucoma, classified according to the age of onset into juvenile and adult- forms with a cut-off point of 40 years of age. The prevalence of OAG is 1-2% of the population over 40 years and increases with age. During the last decade several candidate loci and three candidate genes, myocilin (MYOC), optineurin (OPTN) and WD40-repeat 36 (WDR36), for OAG have been identified. Exfoliation syndrome (XFS), age, elevated intraocular pressure and genetic predisposition are known risk factors for OAG. XFS is characterized by accumulation of grayish scales of fibrillogranular extracellular material in the anterior segment of the eye. XFS is overall the most common identifiable cause of glaucoma (exfoliation glaucoma, XFG). In the past year, three single nucleotide polymorphisms (SNPs) on the lysyl oxidase like 1 (LOXL1) gene have been associated with XFS and XFG in several populations. This thesis describes the first molecular genetic studies of OAG and XFS/XFG in the Finnish population. The role of the MYOC and OPTN genes and fourteen candidate loci was investigated in eight Finnish glaucoma families. Both candidate genes and loci were excluded in families, further confirming the heterogeneous nature of OAG. To investigate the genetic basis of glaucoma in a large Finnish family with juvenile and adult onset OAG, we analysed the MYOC gene in family members. Glaucoma associated mutation (Thr377Met) was identified in the MYOC gene segregating with the disease in the family. This finding has great significance for the family and encourages investigating the MYOC gene also in other Finnish OAG families. In order to identify the genetic susceptibility loci for XFS, we carried out a genome-wide scan in the extended Finnish XFS family. This scan produced promising candidate locus on chromosomal region 18q12.1-21.33 and several additional putative susceptibility loci for XFS. This locus on chromosome 18 provides a solid starting point for the fine-scale mapping studies, which are needed to identify variants conferring susceptibility to XFS in the region. A case-control and family-based association study and family-based linkage study was performed to evaluate whether SNPs in the LOXL1 gene contain a risk for XFS, XFG or POAG in the Finnish patients. A significant association between the LOXL1 gene SNPs and XFS and XFG was confirmed in the Finnish population. However, no association was detected with POAG. Probably also other genetic and environmental factors are involved in the pathogenesis of XFS and XFG.

Structural and functional roles of KCC2 in developing cortex

Cation chloride cotransporters (CCCs) are critical for controlling intracellular chloride homeostasis. The CCC family is composed of four isoforms of K-Cl cotransporters (KCC1-4), two isoforms of Na-K-2Cl cotransporters (NKCC1-2), one Na-Cl cotransporter (NCC) and two the structurally related proteins with unknown function, CCC8 also known as cation-chloride cotransporter interaction protein, CIP, and CCC9. KCC2 is a neuron-specific isoform, which plays a prominent role in controlling the intracellular Cl- concentration in neurons and is responsible for producing the negative shift of GABAA responses from depolarizing to hyperpolarizing during neuronal maturation. In the present studies we first used in situ hybridization to examine the developmental expression patterns of the cation-chloride cotransporters KCC1-4 and NKCC1. We found that they display complementary expression patterns during embryonic brain development. Most interestingly, KCC2 expression in the embryonic central nervous system strictly follows neuronal maturation. In vitro data obtained from primary and organotypic neuronal cultures support this finding and revealed a temporal correlation between the expression of KCC2 and synaptogenesis. We found that KCC2 is highly expressed in filopodia and mature spines as well as dendritic shaft and investigated the role of KCC2 in spine formation by analyzing KCC2-/- neurons in vitro. Our studies revealed that KCC2 is a key factor in the maturation of dendritic spines. Interestingly, the effect of KCC2 in spine formation is not due to Cl- transport activity, but mediated through the interaction between KCC2 C-terminal and intracellular protein associated with cytoskeleton. The interacting protein we found is protein 4.1N by immunoprecipitation. Our results indicate a structural role for KCC2 in the development of functional glutamatergic synapses and suggest KCC2 as a synchronizer for the functional development of glutamatergic and GABAergic synapses in neuronal network. Studies on the regulatory mechanisms of KCC2 expression during development and plasticity revealed that synaptic activity of both the glutamatergic and GABAergic system is not required for up-regulation of KCC2 during development, whereas in acute mature hippocampal slices which undergo continuous synchronous activity induced by the absence of Mg2+ solution, KCC2 mRNA and protein expression were down-regulated in CA1 pyramidal neurons subsequently leading to a reduced capacity for neuronal Cl- extrusion. This effect is mediated by endogenous BDNF-TrkB down-stream cascades involving both Shc/FRS-2 and PLCγ-CREB signaling. BDNF mediated changes in KCC2 expression indicate that KCC2 is significantly involved in the complex mechanisms of neuronal plasticity during development and pathophysiological conditions.

Stone baby: An exploration of affect and trauma in visual art

Stone Baby: An Exploration of Affect and Trauma in Visual Art was held at the Block, QUT Creative Industries Precinct on August 27-28, 2014. At the conclusion of my Masters project, this exhibition was a showcase of the outcomes of my material and digital explorations in the form of installation, sculpture and film. My primary motivation can be described as a relational and ethical attempt to find a balance between the erotic and the aggressive. This is experienced in the self as feelings of attraction and repulsion in response to the new and unknown "other". Consequently creative practice is necessarily a complex affair that is experienced as a completely immersive and self-contained psychological space. It is within this space that both physical sensation and raw emotion are able to tangibly and conceptually interact with psychoanalytic theory, and concrete materials video and sound.

Primary Dislocation of the Patella : A Clinical Study

A total of 177 patients with primary dislocation of the patella (PDP) were admitted to two trauma centers in Helsinki, Finland during 1991 to 1992. The inclusion criteria were: 1. Acute (≤14 days old) first-time lateral dislocation of the patella. 2. No previous knee operations or major knee injuries. 3. No ligament injuries to be repaired. 4. No osteochondral fractures requiring fixation. 50 patients were excluded. 30 of these excluded patients would have met the inclusion criteria, 19 patients received treatment by consultants not involved in the study, 7 refused to participate and 4 had an erroneous randomization. 127 patients including, 82 females, were then randomized to have either tailor-made operative procedure (group O) or conservative treatment (group C). The aftercare was similar for both groups. The mean age of the patients was 20 (9-47) years. All patients were subjected to analysis of trauma history (starting position and knee movement during the dislocation), examination under anesthesia (EUA) and arthroscopy. 70 patients (52 females) were randomized by their odd year of birth to operative group O and 57 patients (30 females) by their even year of birth to conservative group C. The diagnosis of PDP was based on locked dislocation in 68 patients, on dislocatability in EUA in 47 patients, and on subluxation in EUA combined with typical intra-articular lesions in 12 patients. In group O, 63 patients had exploration of the injuries on the medial side of the knee and tailor made reconstruction added with lateral release in 54 cases. The medial injury was operated by suturing in 39 patients, by duplication in 18 patients and by additional augmentation of the medial patellofemoral ligament (MPFL) with adductor magnus tenodesis in 6 patients. 7 patients, without locking in trauma history and only subluxation in EUA had only lateral release for realignment. In adductor magnus tenodesis the proximal end of the distal tendinous part was rerouted to the upper medial border of the patella. In the conservative group C, the treatment was adjusted to the extent of patellar displacement in EUA. Patients with dislocation in EUA had 3 weeks’ immobilization with the knee in slight flexion. Mobilization was started with a soft patellar stabilizing orthosis (PSO) used for additional three weeks. The patients with subluxation in EUA wore an orthosis for six weeks. The aftercare was similar in group O. The outcome was similar in both groups. After an average of 25 (20-45) months´ follow-up, the subjective result was better in group C in respect of the mean Hughston VAS knee score (87 for group O and 90 for group C, p=0.04, visual analog scale), but similar in terms of the patient’s own overall opinion and the mean Lysholm II knee score. Recurrent instability episodes occurred in 18 patients in group O and in 20 patients in group C. After an average of 7 (6-9) years´ follow-up, the groups did not show statistical difference either in respect of the patient’s own overall opinion, or the mean Hughston VAS and Kujala knee scores. The proportions of stable patellae was 25/70 (36%) in group O and 17/57 (30%) in group O (p=0.5). In a multivariate risk analysis, there was a correlation between low Kujala score (<90) as dependent parameter and female gender (OR: 3.5; 95% CI: 1.4-9.0), and loose body on primary radiographs (OR: 4.1; 95% CI: 1.2-15). Recurrent instability correlated with young age at the time of PDP (OR: 0.9; 95% CI: 0.8-1.0/year). Girls with open tibial apophysis had the worst prognosis for instability (88%; 95% CI: 77-98). The most common mechanisms in trauma history of the patients were movement to flexion from a straight start (78%) and movement to extension from a well-bent start (8%). Spontaneous relocation of the patella had taken place in 13/39 of girls, in 11/21 of boys, in 26/42 of women and in 17/24 of men with skeletal maturity of the tibia. The dislocation in EUA was non-rotating in 96/126 patients followed by outward rotating dislocation in 14/126 patients. Operative treatment policy in PDP is not recommended. Locking tendency of the patella in PDP depended on the skeletal maturation. Recurrence rate after PDP was higher than expected.

Visual Impairment in Finnish Children : Prevalence, causes and morbidity of full-term and preterm children with visual impairment born from 1972 through 1989

The prevalence and the causes of childhood visual impairment in Finland during the 1970s and the 1980s were investigated, with special attention to risk factors and further prevention of visual impairment in children. The primary data on children with visual impairment were obtained from the Finnish Register of Visual Impairment, one of the patient registers kept up by the National Research and Development Centre for Welfare and Health (Stakes). The data were supplemented from other registers in Stakes and from patient records of the children in Finnish central hospitals. Visual impairment had been registered in 556 children from a population of 1,138,326 children between ages 0-17, born from 1972 through 1989. The age-specific prevalence of registered visual impairment was 49/100,000 in total. Of them, 23/100,000 were blind children and 11/100,000 were children born prematurely. Boys were impaired more often and more severely than girls. Congenital malformations (52%), systemic diseases (48%), and multiple impairments (50%) were common. The main ophthalmic groups of visual impairment were retinal diseases (35%), ocular malformations (29%), and neuro-ophthalmological disorders (29%). Optic nerve atrophy was the most common diagnosis of visual impairment (22%), followed by congenital cataract (11%), retinopathy of prematurity (10%), and cerebral visual impairment (8%). Genetic factors (42%) were the most common etiologies of visual impairment, followed by prenatal (30%) and perinatal (21%) factors. The highest rates of blindness were seen in cerebral visual impairment (83%) and retinopathy of prematurity (82%). Retinopathy of prematurity had developed in the children born at a gestational age of 32 weeks or earlier. Significant risks for visual impairment were found in the association with preterm births, prenatal infections, birth asphyxia, neonatal respiratory difficulties, mechanical ventilation lasting over two weeks, and hyperbilirubinemia. A rise in blind and multi-impaired children was seen during the study period, associating with increases in the survival of preterm infants with extremely low birth weight. The incidence of visual impairment in children born prematurely was seven times higher than in children born at full term. A reliable profile of childhood visual impairment was obtained. The importance of highly qualified antenatal, neonatal, and ophthalmological care was clearly proved. The risks associated with pre- and perinatal disorders during pregnancy must be emphasized, e.g. the risks associated with maternal infections and the use of tobacco, alcohol, and drugs during pregnancy. Obvious needs for gene therapies and other new treatments for hereditary diseases were also proved.

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

Primary microcephaly is an autosomal recessive disorder characterized by smaller than normal brain size and mental retardation. It is genetically heterogeneous with seven loci: MCPH1-MCPH7. We have previously reported genetic analysis of 35 families, including the identification of the MCPH7 gene STIL. Of the 35 families, three families showed linkage to the MCPH2 locus. Recent whole-exome sequencing studies have shown that the WDR62 gene, located in the MCPH2 candidate region, is mutated in patients with severe brain malformations. We therefore sequenced the WDR62 gene in our MCPH2 families and identified two novel homozygous protein truncating mutations in two families. Affected individuals in the two families had pachygyria, microlissencephaly, band heterotopias, gyral thickening, and dysplastic cortex. Using immunofluorescence study, we showed that, as with other MCPH proteins, WDR62 localizes to centrosomes in A549, HepG2, and HaCaT cells. In addition, WDR62 was also localized to nucleoli. Bioinformatics analysis predicted two overlapping nuclear localization signals and multiple WD-40 repeats in WDR62. Two other groups have also recently identified WDR62 mutations in MCPH2 families. Our results therefore add further evidence that WDR62 is the MCPH2 gene. The present findings will be helpful in genetic diagnosis of patients linked to the MCPH2 locus.

Texture discriminability in monkey inferotemporal cortex predicts human texture perception

Shape and texture are both important properties of visual objects, but texture is relatively less understood. Here, we characterized neuronal responses to discrete textures in monkey inferotemporal (IT) cortex and asked whether they can explain classic findings in human texture perception. We focused on three classic findings on texture discrimination: 1) it can be easy or hard depending on the constituent elements; 2) it can have asymmetries, and 3) it is reduced for textures with randomly oriented elements. We recorded neuronal activity from monkey inferotemporal (IT) cortex and measured texture perception in humans for a variety of textures. Our main findings are as follows: 1) IT neurons show congruent selectivity for textures across array size; 2) textures that were easy for humans to discriminate also elicited distinct patterns of neuronal activity in monkey IT; 3) texture pairs with asymmetries in humans also exhibited asymmetric variation in firing rate across monkey IT; and 4) neuronal responses to randomly oriented textures were explained by an average of responses to homogeneous textures, which rendered them less discriminable. The reduction in discriminability of monkey IT neurons predicted the reduced discriminability in humans during texture discrimination. Taken together, our results suggest that texture perception in humans is likely based on neuronal representations similar to those in monkey IT.