Visual function in children with Joubert syndrome.

AIM: To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects. METHOD: This retrospective cross-sectional work included 59 patients (33 male; mean age 9 years 2 months, standard deviation 6 years 3 months, range 4 months to 23 years) diagnosed with Joubert syndrome from January 2002 to December 2020. Data about clinical (neurological, neuro-ophthalmological, developmental/cognitive) and diagnostic (e.g. genetic testing, neuroimaging, systemic involvement) evaluations were collected in a data set during a review of medical records. Clinical and diagnostic variables were described in terms of raw counts and percentages. A χ2 test was conducted to investigate their association with neuropsychological skills. RESULTS: Ocular motor apraxia was highly represented in our cohort (75%), with a high prevalence of refractive defects and retinal abnormalities. Developmental delay/intellectual disability was frequent (in 69.5% of the sample), associated with retinal dystrophy (p = 0.047) and reduced visual acuity both for near (p = 0.014) and for far distances (p = 0.017). INTERPRETATION: On the basis of the relevance of oculomotor and perceptual alterations and their impact on overall and cognitive impairment, we encourage early and multidisciplinary assessment and follow-up of visual function in children with Joubert syndrome. This would help in planning a personalized rehabilitation to sustain functional vision. Further studies will be important to explore the link between biological aspects and global functioning in children with Joubert syndrome. WHAT THIS PAPER ADDS: Perceptual deficits and oculomotor impairments frequently coexist in Joubert syndrome. Retinal dysfunction may be present despite the absence of funduscopic abnormalities. Both perceptual and oculomotor impairments negatively affect cognitive development in Joubert syndrome.

Allocentric spatial perception through vision and touch in sighted and blind children.

Vision and touch play a critical role in spatial development, facilitating the acquisition of allocentric and egocentric frames of reference, respectively. Previous works have shown that children's ability to adopt an allocentric frame of reference might be impaired by the absence of visual experience during growth. In the current work, we investigated whether visual deprivation also impairs the ability to shift from egocentric to allocentric frames of reference in a switching-perspective task performed in the visual and haptic domains. Children with and without visual impairments from 6 to 13 years of age were asked to visually (only sighted children) or haptically (blindfolded sighted children and blind children) explore and reproduce a spatial configuration of coins by assuming either an egocentric perspective or an allocentric perspective. Results indicated that temporary visual deprivation impaired the ability of blindfolded sighted children to switch from egocentric to allocentric perspective more in the haptic domain than in the visual domain. Moreover, results on visually impaired children indicated that blindness did not impair allocentric spatial coding in the haptic domain but rather affected the ability to rely on haptic egocentric cues in the switching-perspective task. Finally, our findings suggested that the total absence of vision might impair the development of an egocentric perspective in case of body midline-crossing targets.