Neuroplastic changes induced by sensory learning have been recognized within the cortices of specific modalities as well as within higher ordered multimodal areas. The interplay between these areas is not fully understood, particularly in the case of somatosensory learning. Here we examined functional and structural changes induced by short-term tactile training based of Braille reading, a task that requires both significant tactile expertise and mapping of tactile input onto multimodal representations. Subjects with normal vision were trained for three weeks to read Braille exclusively by touch and scanned before and after training, while performing a same-different discrimination task on Braille characters and meaningless characters. Functional and diffusion-weighted magnetic resonance imaging sequences were used to assess resulting changes. The strongest training-induced effect was found in the primary somatosensory cortex (SI), where we observed bilateral augmentation in activity accompanied by an increase in fractional anisotropy (FA) within the contralateral SI. Increases of white matter fractional anisotropy were also observed in the secondary somatosensory area (SII) and the thalamus. Outside of somatosensory system, changes in both structure and function were found in i.e. the fusiform gyrus, the medial frontal gyri and the inferior parietal lobule. Our results provide evidence for functional remodeling of the somatosensory pathway and higher ordered multimodal brain areas occurring as a result of short-lasting tactile learning, and add to them a novel picture of extensive white matter plasticity.

Hearing loss and ovarian dysfunction are key features of Perrault syndrome (PRLTS) but the clinical and pathophysiological features of hearing impairment in PRLTS individuals have not been addressed. Mutations in one of five different genes HSD17B4, HARS2, LARS2, CLPP or TWNK (previous symbol C10orf2) cause the autosomal recessive disorder but they are found only in about half of the patients. We report on two siblings with a clinical picture resembling a severe, neurological type of PRLTS. For an exhaustive characterisation of the phenotype neuroimaging with volumetric measurements and objective measures of cochlear hair cell and auditory nerve function (otoacustic emissions and auditory brainstem responses) were used. Whole exome sequencing was applied to identify the genetic cause of the disorder. Co-segregation of the detected mutations with the phenotype was confirmed by Sanger sequencing. In silico analysis including 3D protein structure modelling was used to predict the deleterious effects of the detected variants on protein function. We found two rare biallelic mutations in TWNK, encoding Twinkle, an essential mitochondrial helicase. Mutation c.1196A>G (p.Asn399Ser) recurred for the first time in a patient with PRLTS and the second mutation c.1802G>A (p.Arg601Gln) was novel for the disorder. In both patients neuroimaging studies showed diminished cervical enlargement of the spinal cord and for the first time in PRLTS partial atrophy of the vestibulocochlear nerves and decreased grey and increased white matter volumes of the cerebellum. Morphological changes in the auditory nerves, their desynchronized activity and partial cochlear dysfunction underlay the complex mechanism of hearing impairment in the patients. Our study unveils novel features on the phenotypic landscape of PRLTS and provides further evidence that the newly identified for PRLTS TWNK gene is involved in its pathogenesis.

Introduction The objective of the presented study was to develop and evaluate a P300 experimental protocol for simultaneous registration of event-related potentials (ERPs) and functional MRI (fMRI) data with continuous imaging. It may be useful for investigating attention and working memory processes in specific populations, such as children and neuropsychiatric patients. Materials and methods Eleven children were investigated with simultaneous ERP–fMRI. To fulfill requirements of both BOLD and electroencephalographic signal registration, a modified oddball task was used. To verify the ERP–fMRI protocol we also performed a study outside the scanner using a typical two-stimuli oddball paradigm. Results Localization of the P300 component of ERPs partially corresponded with fMRI results in the frontal and parietal brain regions. FMRI activations were found in: middle frontal gyrus, insula, SMA, parietal lobule, thalamus, and cerebellum. Our modified oddball task provided ERP–fMRI results with high level of significance (EEG SNR = 35, fMRI p < 0.05–Bonf.). ERPs obtained in the scanner were comparable with those registered outside the scanner, although some differences in the amplitude were noticed, mainly in the N100 component. Conclusion In our opinion the presented paradigm may be successfully applied for simultaneous ERP–fMRI registration of neural correlates of attention in vulnerable populations.

Background: Hearing loss is becoming a real social and health problem. Its prevalence in the elderly is an epidemic. The risk of developing hearing loss is also growing among younger people. If left untreated, hearing loss can perpetuate development of neurodegenerative diseases, including dementia. Despite recent advancements in hearing aid (HA) and cochlear implant (CI) technologies, hearing impaired users still encounter significant practical and social challenges, with or without aids. In particular, they all struggle with understanding speech in challenging acoustic environments, especially in presence of a competing speaker. Objectives: In the current proof-of-concept study we tested whether multisensory stimulation, pairing audition and a minimal-size touch device would improve intelligibility of speech in noise. Methods: To this aim we developed an audio-to-tactile sensory substitution device (SSD) transforming low-frequency speech signals into tactile vibrations delivered on two finger tips. Based on the inverse effectiveness law, i.e., multisensory enhancement is strongest when signal-to-noise ratio is lowest between senses, we embedded non-native language stimuli in speech-like noise and paired it with a low-frequency input conveyed through touch. Results: We found immediate and robust improvement in speech recognition (i.e. in the Signal-To-Noise-ratio) in the multisensory condition without any training, at a group level as well as in every participant. The reported improvement at the group-level of 6 dB was indeed major considering that an increase of 10 dB represents a doubling of the perceived loudness. Conclusions: These results are especially relevant when compared to previous SSD studies showing effects in behavior only after a demanding cognitive training. We discuss the implications of our results for development of SSDs and of specific rehabilitation programs for the hearing impaired either using or not using HAs or CIs. We also discuss the potential application of such a set-up for sense augmentation, such as when learning a new language.