Visual function in children with Joubert syndrome

Abstract

AimTo describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects.MethodThis 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.ResultsOcular 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).InterpretationOn 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.

Visual Function and Neuropsychological Profiling of Idiopathic Infantile Nystagmus

“…The visual functions are summarized in Table 2 . We collected and categorized the data according to the standardized clinical protocol presented by Signorini et al that has already been used in research papers [ 31 , 32 ]. Nystagmus was clinically evaluated through a video recording and a multidisciplinary (both neuro-ophthalmological and neuro-paediatric) assessment.…”