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Background: There is limited research on brain lesions in children with cerebral visual impairment (CVI) of heterogeneous etiologies and according to associated subtyping and vision dysfunctions. This study was part of a larger project establishing data-driven subtypes of childhood CVI according to visual dysfunctions. Currently there is no consensus in relation to assessment, diagnosis and classification of CVI and more information about brain lesions may be of potential diagnostic value. Aim: This study aimed to investigate overall patterns of brain lesions and associations with level of visual dysfunction and to compare the patterns between the classification subgroups in children with CVI. Methods: School-aged children with CVI received ophthalmological and neuro-psychological/developmental assessments to establish CVI-related subtyping. Other pediatric information was collected from medical records. MRI scans were coded according to a semi-quantitative template including brain regions (right hemisphere, left hemisphere, visual pathways) and summed for total scores. Non-parametric analyses were conducted. Results: 28 children had clinical brain MRI scans available [44% of total sample, Group A (lower severity of visual dysfunctions) n = 16, Group B (higher severity) n = 12]. Total brain scores ranged between 0 and 18 (Group A mdn = 7, IQR = 0.8–10.0, Group B mdn = 10, IQR = 6.5–11.8) and were widespread across regions. 71 per cent had post-geniculate visual pathway damage. The median total brain and hemisphere scores of Group B were higher than subgroup A but differences did not reach statistical significance. No statistically significant associations were found between brain scores and vision variables (acuity, contrast sensitivity). Conclusion: This study found a spread of lesions across all regions on the brain scans in children with congenital CVI. The majority had damage in the postgeniculate visual pathways and visual cortex region suggesting this is an area of interest and potentially informative for diagnosis. However the subtyping classification did not show differences in number or region of lesions though the trend was higher toward Group B. This study confirms the complex diffuse and variable nature of brain lesions in children with congenital CVI, many of whom have other neurological impairments. [ABSTRACT FROM AUTHOR]

Background: This study investigated mother–infant interactions, including maternal maintaining of infant attentional focus and sensitivity, with infants with congenital severe and profound visual impairment (VI) and the association with developmental trajectories from one to three years. Method: Fifty‐five infants and mothers were video‐recorded playing together with a standard set of toys at Time 1 (T1) mean age 12.95 months (8.13–17.05 months). Maintain was categorized as the mother following and maintaining the child's focus, and Sensitivity, the mother's responsiveness and contingency to infant behaviour. Vision level was measured using the Near Detection Scale. Cognition and language were measured at T1, 12 months later (T2) and 24 months later (T3) using the Reynell‐Zinkin Scales. Results: Cross‐sectional analyses showed that mothers of infants with severe VI (basic form vision) produced higher rates of Maintain compared to those with children with profound VI (light perception at best). Linear mixed‐effects models examining developmental progression from T1 to T3 (controlling for vision level) showed an average increase of 5 DQ points (CI 95%: 1.03–9.08) in verbal comprehension for higher Sensitivity. No significant findings were found for Maintain. Conclusions: The findings suggest that mother–infant interactions (maternal Maintain) are associated with level of vision at infancy, but only maternal Sensitivity has a long‐term positive association with advances in verbal comprehension from infancy to about three years. They highlight the need for incorporating strategies related to parent–infant interactions, including increased sensitivity, into early intervention for children with visual impairment. [ABSTRACT FROM AUTHOR]

Aim: To develop a data‐driven subgrouping method to identify and profile subtypes of early‐onset childhood cerebral visual impairment (CVI). Method: Sixty‐three children with suspected or diagnosed congenital CVI were recruited (28 males, 35 females, median age=8y, range=5–16y). Cognitive, basic, and higher‐order vision functions were assessed and quality of life, functional vision questionnaire, neurodevelopmental, and ophthalmological data were collected. Cluster analysis and other statistical analyses were undertaken to determine and validate the subgrouping. Results: Forty‐three participants completing the full test battery were included in cluster analysis, revealing two subgroups. Group A1 (n=15) showed selective visual perception and visuomotor deficits. Group A2 (n=28) showed more severe and broader visual perception and visuomotor deficits, and variable visual acuity. A third, lower‐functioning group, Group B (n=20), was differentiated and showed significant visual acuity reduction compared with Group A (p<0.001, V=0.69). External validation showed significant cooccurring ophthalmological (e.g. strabismus p<0.001, V=0.59) and motor impairment differences (χ2=16.26, p<0.001, V=0.51) between the three groups. All groups had lowered parent‐reported quality of life and everyday functional vision. Interpretation: Statistical analyses revealed three subgroups with differentiated vision function characteristics on a gradient of severity. The subgrouping method provides the first steps in developing a novel classification system to underpin future clinical diagnostics and profiling of early‐onset CVI. What this paper adds: Three data‐driven subgroups of vision function deficits were identified.A similar severity gradient was shown in cooccurring cognitive and neurodevelopmental deficits.Reported quality of life and functional vision difficulties were low across all groups. What this paper adds: Three data‐driven subgroups of vision function deficits were identified.A similar severity gradient was shown in cooccurring cognitive and neurodevelopmental deficits.Reported quality of life and functional vision difficulties were low across all groups. This article is commented on by Dutton on page 245 of this issue. [ABSTRACT FROM AUTHOR]

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The childhood condition of visual difficulties caused by brain damage, commonly termed cortical or cerebral visual impairment (CVI), is well established but has no internationally accepted definition. Clarification of its core features is required to advance research and clinical practice. This systematic review aimed to identify the definitions of childhood CVI in the original scientific literature to describe and critically appraise a consensual definition of the condition. MEDLINE, EMBASE, PsychINFO, CINAHL and AMED databases were searched in January 2017. Studies were included if they (1) were published original research, (2) contained a childhood CVI sample, (3) contained a definition of CVI and (4) described their CVI identification/diagnostic method. Thematic analysis identified concepts within definitions and narrative synthesis was conducted. Of 1150 articles, 51 met inclusion criteria. Definitions were subdivided according to detail (descriptive definition, description not reaching definition status and diagnostic/ operationalising criteria). Three themes concerning visual deficits, eye health and brain integrity were identified (each containing subthemes) and analysed individually across definitions. The most common themes were 'visual impairment' (n=20), 'retrochiasmatic pathway damage'(n=13) and 'normal/near normal eye health' (n=15). The most consensual definition identified here may not be the best quality for advancing our understanding of CVI. We argue for the alternative definition: CVI is a verifiable visual dysfunction which cannot be attributed to disorders of the anterior visual pathways or any potentially co-occurring ocular impairment. We propose reporting guidelines to permit comparison across studies and increase the evidence base for more reliable clinical assessment and diagnosis. [ABSTRACT FROM AUTHOR]