Visual function in children with Joubert syndrome.

Autor: Morelli F; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.; Developmental Neuro-ophthalmology Unit, IRCCS Mondino Foundation, Pavia, Italy., Toni F; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Saligari E; Developmental Neuro-ophthalmology Unit, IRCCS Mondino Foundation, Pavia, Italy., D'Abrusco F; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Serpieri V; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Ballante E; Department of Political and Social Sciences, University of Pavia, Pavia, Italy.; BioData Science Center, IRCCS Mondino Foundation, Pavia, Italy., Ruberto G; Developmental Neuro-ophthalmology Unit, IRCCS Mondino Foundation, Pavia, Italy., Borgatti R; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.; Child Neuropsychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Unit, IRCCS Mondino Foundation, Pavia, Italy., Signorini S; Developmental Neuro-ophthalmology Unit, IRCCS Mondino Foundation, Pavia, Italy.; Child Neuropsychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.
Jazyk: angličtina
Zdroj: Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Mar; Vol. 66 (3), pp. 379-388. Date of Electronic Publication: 2023 Aug 18.
DOI: 10.1111/dmcn.15732
Abstrakt: 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 χ 2 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.
(© 2023 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)
Databáze: MEDLINE
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