It is widely recognised that children with Down syndrome have a broad range and a high prevalence of visual deficits and it has been suggested that those with Down syndrome are more likely to exhibit visual perception deficits indicative of cerebral visual impairment. This exploratory study aims to determine the prevalence of behavioural features suggestive of cerebral visual impairment (CVI) occurring with Down syndrome and whether the visual problems can be ascribed to optometric factors. A cohort of 226 families of children with Down syndrome (trisomy 21), aged 4–17, were invited to participate in a validated question inventory, to recognise visual perception issues. The clinical records of the participants were then reviewed retrospectively. A five-question screening instrument was used to indicate suspected CVI. The majority of the 81 families who responded to the questionnaire reported some level of visual perceptual difficulty in their child. Among this cohort, the prevalence of suspected CVI as indicated by the screening questionnaire was 38%. Only ametropia was found to have a significant association with suspected CVI, although this increased the correct prediction of suspected CVI outcome by only a small amount. Results suggest that children with Down syndrome are more likely to experience problems consistent with cerebral visual impairment, and that these may originate from a similar brain dysfunction to that which contributes to high levels of ametropia and failure to emmetropise. It is important that behavioural features of CVI are recognised in children with Down syndrome, further investigations initiated and appropriate management applied.
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