Visual function in children with Joubert Syndrome

Introduction

This database includes the raw data linked with the paper “ Visual function in children with Joubert Syndrome ” accepted for publication on “Developmental Medicine and Child Neurology”. In this paper, we aimed to a) describe visual function in children with Joubert syndrome (JS) b) investigate its possible association between with diagnostic and developmental aspects. The spreadsheet includes data on medical history and clinical characteristics of the 59 included subjects (columns A-AB), neuroradiological and genetic data (columns AC-AE), visual functions and neuro-ophthalmological data (columns AF-BN), behavioural and cognitive data (columns BO-BQ). The encoding of data is presented in the second sheet.

Methods

This retrospective cross-sectional work included 59 patients (33 male; mean age 9 years 2 months, range 4 months to 23 years) diagnosed with JS from January 2002 to December 2020. Data about clinical and diagnostic evaluations were collected in a data set during a review of medical records.

Results (in brief)

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).  Based on our results, 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.