Fiona McDonald, Katie Robinson, Aoife L Gallagher, Judith Pettigrew
Exploring the co-involvement of disabled adolescents in participatory action research; protocol for a critical interpretative synthesis
HRB open research
describe visual function children joubert syndrome investigate possible association diagnostic developmental aspects retrospective crosssectional work included 59 patients 33 male mean age 9 years 2 months standard deviation 6 years 3 months range 4 months 23 years diagnosed joubert syndrome january 2002 december 2020 data clinical neurological neuroophthalmological developmentalcognitive diagnostic eg genetic testing neuroimaging systemic involvement evaluations collected data set review medical records clinical diagnostic variables described terms raw counts percentages 2 test conducted investigate association neuropsychological skills ocular motor apraxia highly represented cohort 75 high prevalence refractive defects retinal abnormalities developmental delayintellectual disability frequent 695 sample associated retinal dystrophy p 0047 reduced visual acuity near p 0014 far distances p 0017 basis relevance oculomotor perceptual alterations impact overall cognitive impairment encourage early multidisciplinary assessment followup visual function children joubert syndrome would help planning personalized rehabilitation sustain functional vision studies important explore link biological aspects global functioning children joubert syndrome perceptual deficits oculomotor impairments frequently coexist joubert syndrome retinal dysfunction may present despite absence funduscopic abnormalities perceptual oculomotor impairments negatively affect cognitive development joubert syndrome