It is not clear what role visual information plays in the development of space perception. It has previously been shown that in absence of vision, both the ability to judge orientation in the haptic modality and bisect intervals in the auditory modality are severely compromised (Gori, Sandini, Martinoli & Burr, 2010; Gori, Sandini, Martinoli & Burr, 2014). Here we report for the first time also a strong deficit in proprioceptive reproduction and audio distance evaluation in early blind children and adults. Interestingly, the deficit is not present in a small group of adults with acquired visual disability. Our results support the idea that in absence of vision the audio and proprioceptive spatial representations may be delayed or drastically weakened due to the lack of visual calibration over the auditory and haptic modalities during the critical period of development.

Attention deficit hyperactivity disorder (ADHD) is a frequent behavioral problem in young boys with fragile X syndrome (FXS), and its treatment is critical for improving social ability. The short-term efficacy of stimulant medications like methylphenidate (MPH) is well established in children with ADHD. FXS boys treated with MPH have improved attention span and socialization skills; however their mood becomes unstable at higher doses. Therefore, alternative pharmacological treatment of ADHD symptoms is desirable. A recent study showed that carnitine has a beneficial effect on the hyperactive-impulsive behavior in boys with ADHD without side effects. Our previous placebo-controlled trial indicated that L-acetylcarnitine (LAC) reduces hyperactivity in FXS boys. The objective of this study was to determine the efficacy of LAC in a larger sample of FXS boys with ADHD. The study design was randomized, double blind placebo controlled, parallel, and multicenter (with eight centers involved in Italy, France, and Spain). Sixty-three FXS males with ADHD (aged 6-13 years) were enrolled; 7 patients dropped out, 56 completed the one-year treatment, and 51 were included in the statistical analysis. Both groups improved their behavior, showing that psychosocial intervention has a significant therapeutic effect. However, we observed a stronger reduction of hyperactivity and improvement of social behavior in patients treated with LAC, compared with the placebo group, as determined by the Conners' Global Index Parents and the Vineland Adaptive Behavior Scale. Our results show that LAC (20-50 mg/kg/day) represents a safe alternative to the use of stimulant drugs for the treatment of ADHD in FXS children.

Since it has been demonstrated that spatial cognition can be affected in visually impaired children, training strategies that exploit the plasticity of the human brain should be early adopted. Here we developed and tested a new training protocol based on the reinforcement of audio-motor associations and thus supporting spatial development in visually impaired children. The study involved forty-four visually impaired children aged 6–17 years old assigned to an experimental (ABBI training) or a control (classical training) rehabilitation conditions. The experimental training group followed an intensive but entertaining rehabilitation for twelve weeks during which they performed ad-hoc developed audio-spatial exercises with the Audio Bracelet for Blind Interaction (ABBI). A battery of spatial tests administered before and after the training indicated that children significantly improved in almost all the spatial aspects considered, while the control group didn’t show any improvement. These results confirm that perceptual development in the case of blindness can be enhanced with naturally associated auditory feedbacks to body movements. Therefore the early introduction of a tailored audio-motor training could potentially prevent spatial developmental delays in visually impaired children.

Since it has been shown that spatial development can be delayed in blind children, focused sensorimotor trainings that associate auditory and motor information might be used to prevent the risk of spatial-related developmental delays or impairments from an early age. With this aim, we proposed a new technological device based on the implicit link between action and perception: ABBI (Audio Bracelet for Blind Interaction) is an audio bracelet that produces a sound when a movement occurs by allowing the substitution of the visuo-motor association with a new audio-motor association. In this study, we assessed the effects of an extensive but entertaining sensorimotor training with ABBI on the development of spatial hearing in a group of seven 3–5 years old children with congenital blindness (n = 2; light perception or no perception of light) or low vision (n = 5; visual acuity range 1.1–1.7 LogMAR). The training required the participants to play several spatial games individually and/or together with the psychomotor therapist 1 h per week for 3 months: the spatial games consisted of exercises meant to train their ability to associate visual and motor-related signals from their body, in order to foster the development of multisensory processes. We measured spatial performance by asking participants to indicate the position of one single fixed (static condition) or moving (dynamic condition) sound source on a vertical sensorized surface. We found that spatial performance of congenitally blind but not low vision children is improved after the training, indicating that early interventions with the use of science-driven devices based on multisensory capabilities can provide consistent advancements in therapeutic interventions, improving the quality of life of children with visual disability.

Vision loss has severe impacts on physical, social and emotional well-being. The education of blind children poses issues as many scholar disciplines (e.g., geometry, mathematics) are normally taught by heavily relying on vision. Touch-based assistive technologies are potential tools to provide graphical contents to blind users, improving learning possibilities and social inclusion. Raised-lines drawings are still the golden standard, but stimuli cannot be reconfigured or adapted and the blind person constantly requires assistance. Although much research concerns technological development, little work concerned the assessment of programmable tactile graphics, in educative and rehabilitative contexts. Here we designed, on programmable tactile displays, tests aimed at assessing spatial memory skills and shapes recognition abilities. Tests involved a group of blind and a group of low vision children and adolescents in a four-week longitudinal schedule. After establishing subject-specific difficulty levels, we observed a significant enhancement of performance across sessions and for both groups. Learning effects were comparable to raised paper control tests: however, our setup required minimal external assistance. Overall, our results demonstrate that programmable maps are an effective way to display graphical contents in educative/rehabilitative contexts. They can be at least as effective as traditional paper tests yet providing superior flexibility and versatility.