Reduced neural selectivity for mental states in deaf children with delayed exposure to sign language

Early linguistic experience directly facilitates social development in childhood. Here, the authors reveal that children with delayed access to language show delayed development of selective responses in cortical regions involved in thinking about others’ thoughts

Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome

Atypical Usher syndrome (USH) is poorly defined with a broad clinical spectrum. Here, we characterize the clinical phenotype of disease caused by variants in CEP78, CEP250, ARSG, and ABHD12. Chart review evaluating demographic, clinical, imaging, and genetic findings of 19 patients from 18 families with a clinical diagnosis of retinal disease and confirmed disease-causing variants in CEP78, CEP250, ARSG, or ABHD12. CEP78-related disease included sensorineural hearing loss (SNHL) in 6/7 patients and demonstrated a broad phenotypic spectrum including: vascular attenuation, pallor of the optic disc, intraretinal pigment, retinal pigment epithelium mottling, areas of mid-peripheral hypo-autofluorescence, outer retinal atrophy, mild pigmentary changes in the macula, foveal hypo-autofluorescence, and granularity of the ellipsoid zone. Nonsense and frameshift variants in CEP250 showed mild retinal disease with progressive, non-congenital SNHL. ARSG variants resulted in a characteristic pericentral pattern of hypo-autofluorescence with one patient reporting non-congenital SNHL. ABHD12-related disease showed rod-cone dystrophy with macular involvement, early and severe decreased best corrected visual acuity, and non-congenital SNHL ranging from unreported to severe. This study serves to expand the clinical phenotypes of atypical USH. Given the variable findings, atypical USH should be considered in patients with peripheral and macular retinal disease even without the typical RP phenotype especially when SNHL is noted. Additionally, genetic screening may be useful in patients who have clinical symptoms and retinal findings even in the absence of known SNHL given the variability of atypical USH

Where, When and Why Brain Activation Differs for Bilinguals and Monolinguals during Picture Naming and Reading Aloud

Using functional magnetic resonance imaging, we found that when bilinguals named pictures or read words aloud, in their native or nonnative language, activation was higher relative to monolinguals in 5 left hemisphere regions: dorsal precentral gyrus, pars triangularis, pars opercularis, superior temporal gyrus, and planum temporale. We further demonstrate that these areas are sensitive to increasing demands on speech production in monolinguals. This suggests that the advantage of being bilingual comes at the expense of increased work in brain areas that support monolingual word processing. By comparing the effect of bilingualism across a range of tasks, we argue that activation is higher in bilinguals compared with monolinguals because word retrieval is more demanding; articulation of each word is less rehearsed; and speech output needs careful monitoring to avoid errors when competition for word selection occurs between, as well as within, language

Haptic spatial configuration learning in deaf and hearing individuals

The present study investigated haptic spatial configuration learning in deaf individuals, hearing sign language interpreters and hearing controls. In three trials, participants had to match ten shapes haptically to the cut-outs in a board as fast as possible. Deaf and hearing sign language users outperformed the hearing controls. A similar difference was observed for a rotated version of the board. The groups did not differ, however, on a free relocation trial. Though a significant sign language experience advantage was observed, comparison to results from a previous study testing the same task in a group of blind individuals showed it to be smaller than the advantage observed for the blind group. These results are discussed in terms of how sign language experience and sensory deprivation benefit haptic spatial configuration processing

Does spatial locative comprehension predict landmark-based navigation?

In the present study we investigated the role of spatial locative comprehension in learning and retrieving pathways when landmarks were available and when they were absent in a sample of typically developing 6- to 11-year-old children. Our results show that the more proficient children are in understanding spatial locatives the more they are able to learn pathways, retrieve them after a delay and represent them on a map when landmarks are present in the environment. These findings suggest that spatial language is crucial when individuals rely on sequences of landmarks to drive their navigation towards a given goal but that it is not involved when navigational representations based on the geometrical shape of the environment or the coding of body movements are sufficient for memorizing and recalling short pathways

Patient preferences for whole-body MRI or conventional staging pathways in lung and colorectal cancer:a discrete choice experiment

OBJECTIVES: To determine the importance placed by patients on attributes associated with whole-body MRI (WB-MRI) and standard cancer staging pathways and ascertain drivers of preference.METHODS: Patients recruited to two multi-centre diagnostic accuracy trials comparing WB-MRI with standard staging pathways in lung and colorectal cancer were invited to complete a discrete choice experiment (DCE), choosing between a series of alternate pathways in which 6 attributes (accuracy, time to diagnosis, scan duration, whole-body enclosure, radiation exposure, total scan number) were varied systematically. Data were analysed using a conditional logit regression model and marginal rates of substitution computed. The relative importance of each attribute and probabilities of choosing WB-MRI-based pathways were estimated.RESULTS: A total of 138 patients (mean age 65, 61% male, lung n = 72, colorectal n = 66) participated (May 2015 to September 2016). Lung cancer patients valued time to diagnosis most highly, followed by accuracy, radiation exposure, number of scans, and time in the scanner. Colorectal cancer patients valued accuracy most highly, followed by time to diagnosis, radiation exposure, and number of scans. Patients were willing to wait 0.29 (lung) and 0.45 (colorectal) weeks for a 1% increase in pathway accuracy. Patients preferred WB-MRI-based pathways (probability 0.64 [lung], 0.66 [colorectal]) if they were equivalent in accuracy, total scan number, and time to diagnosis compared with a standard staging pathway.CONCLUSIONS: Staging pathways based on first-line WB-MRI are preferred by the majority of patients if they at least match standard pathways for diagnostic accuracy, time to diagnosis, and total scan number.KEY POINTS: • WB-MRI staging pathways are preferred to standard pathways by the majority of patients provided they at least match standard staging pathways for accuracy, total scan number, and time to diagnosis. • For patients with lung cancer, time to diagnosis was the attribute valued most highly, followed by accuracy, radiation dose, number of additional scans, and time in a scanner. Preference for patients with colorectal cancer was similar. • Most (63%) patients were willing to trade attributes, such as faster diagnosis, for improvements in pathway accuracy and reduced radiation exposure.</p

Evidence from an emerging sign language reveals that language supports spatial cognition

Although spatial language and spatial cognition covary over development and across languages, determining the causal direction of this relationship presents a challenge. Here we show that mature human spatial cognition depends on the acquisition of specific aspects of spatial language. We tested two cohorts of deaf signers who acquired an emerging sign language in Nicaragua at the same age but during different time periods: the first cohort of signers acquired the language in its infancy, and 10 y later the second cohort of signers acquired the language in a more complex form. We found that the second-cohort signers, now in their 20s, used more consistent spatial language than the first-cohort signers, now in their 30s. Correspondingly, they outperformed the first cohort in spatially guided searches, both when they were disoriented and when an array was rotated. Consistent linguistic marking of left–right relations correlated with search performance under disorientation, whereas consistent marking of ground information correlated with search in rotated arrays. Human spatial cognition therefore is modulated by the acquisition of a rich language