Behavioural features of cerebral visual impairment are common in children with down syndrome

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.V. Vinuela-Navarro and R. England were funded by Action Medical Research for Children GN2338.Peer ReviewedPostprint (author's final draft

Different visual development:norms for visual acuity in children with Down's syndrome

BACKGROUND:  Visual acuity is known to be poorer in children with Down's syndrome than in age-matched controls. However, to date, clinicians do not have access to norms for children with Down's syndrome that allow differential discrimination of healthy from anomalous visual development in this population. METHODS: The Down's Syndrome Vision Research Unit at Cardiff University has been monitoring visual development in a large cohort of children since 1992. Cross-sectional data on binocular visual acuity were retrospectively analysed for 159 children up to 12 years of age in order to establish binocular acuity norms. Longitudinal binocular acuity data were available for nine children who were seen regularly over the 12 years age-range. Monocular acuity was successfully recorded less often in the cohort, but analysis of scores for 69 children allowed assessment of inter-ocular acuity differences and binocular summation. RESULTS: In comparison with published norms for the various acuity tests used, binocular acuity was consistently poorer in children with Down's syndrome from the age of three years and stabilised at around 0.25 logMAR from the age of four years. Inter-ocular acuity difference and binocular summation were both 0.06 logMAR, which is similar to the reported values in children without Down's syndrome. CONCLUSIONS: The study provides eye-care practitioners with the expected values for binocular acuity in children with Down's syndrome and demonstrates the visual disadvantage that children with Down's syndrome have when compared with their typically developing peers. The results emphasise the responsibility that practitioners have to notify parents and educators of the relatively poor vision of children with Down's syndrome, and the need for classroom modifications

Quantitative characterization of smooth pursuit eye movements in school-age children using a child-friendly setup

Purpose: It could be argued that current studies investigating smooth pursuit development in children do not provide an optimal measure of smooth pursuit characteristics, given that a significant number have failed to adjust their setup and procedures to the child population. This study aimed to characterize smooth pursuit in children using child-friendly stimuli and procedures. Methods: Eye movements were recorded in 169 children (4–11 years) and 10 adults, while a customized, animated stimulus was presented moving horizontally and vertically at 68/s and 128/s. Eye movement recordings from 43 children with delayed reading, two with nystagmus, two with strabismus, and two with unsuccessful calibration were excluded from the analysis. Velocity gain, proportion of smooth pursuit, and the number and amplitude of saccades during smooth pursuit were calculated for the remaining participants. Median and quartiles were calculated for each age group and pursuit condition. ANOVA was used to investigate the effect of age on smooth pursuit parameters. Results: Differences across ages were found in velocity gain (68/s P , 0.01; 128/s P , 0.05), as well as the number (128/s P , 0.05) and amplitude of saccades (128/s P , 0.05), for horizontal smooth pursuit. Post hoc tests showed that these parameters were different between children aged 7 or younger and adults. No significant differences were found across ages in any smooth pursuit parameter for the vertical direction (P . 0.05). Conclusions: Using child-friendly methods, children over the age of 7 to 8 years demonstrated adultlike smooth pursuit. Translational Relevance: Child-friendly procedures are critical for appropriately characterizing smooth pursuit eye movements in children.Peer ReviewedPostprint (published version

Quantitative Characterization of Smooth Pursuit Eye Movements in School-Age Children Using a Child-Friendly Setup

Purpose: It could be argued that current studies investigating smooth pursuit development in children do not provide an optimal measure of smooth pursuit characteristics, given that a significant number have failed to adjust their setup and procedures to the child population. This study aimed to characterize smooth pursuit in children using child-friendly stimuli and procedures. Methods: Eye movements were recorded in 169 children (4–11 years) and 10 adults, while a customized, animated stimulus was presented moving horizontally and vertically at 6°/s and 12°/s. Eye movement recordings from 43 children with delayed reading, two with nystagmus, two with strabismus, and two with unsuccessful calibration were excluded from the analysis. Velocity gain, proportion of smooth pursuit, and the number and amplitude of saccades during smooth pursuit were calculated for the remaining participants. Median and quartiles were calculated for each age group and pursuit condition. ANOVA was used to investigate the effect of age on smooth pursuit parameters. Results: Differences across ages were found in velocity gain (6°/s P 0.05). Conclusions: Using child-friendly methods, children over the age of 7 to 8 years demonstrated adultlike smooth pursuit. Translational Relevance: Child-friendly procedures are critical for appropriately characterizing smooth pursuit eye movements in children

Effect of Stimulus Type and Motion on Smooth Pursuit in Adults and Children

PURPOSE: This study presents a two-degree customized animated stimulus developed to evaluate smooth pursuit in children and investigates the effect of its predetermined characteristics (stimulus type and size) in an adult population. Then, the animated stimulus is used to evaluate the impact of different pursuit motion paradigms in children. METHODS: To study the effect of animating a stimulus, eye movement recordings were obtained from 20 young adults while the customized animated stimulus and a standard dot stimulus were presented moving horizontally at a constant velocity. To study the effect of using a larger stimulus size, eye movement recordings were obtained from 10 young adults while presenting a standard dot stimulus of different size (1° and 2°) moving horizontally at a constant velocity. Finally, eye movement recordings were obtained from 12 children while the 2° customized animated stimulus was presented after three different smooth pursuit motion paradigms. Performance parameters, including gains and number of saccades, were calculated for each stimulus condition. RESULTS: The animated stimulus produced in young adults significantly higher velocity gain (mean: 0.93; 95% CI: 0.90-0.96; P = .014), position gain (0.93; 0.85-1; P = .025), proportion of smooth pursuit (0.94; 0.91-0.96, P = .002), and fewer saccades (5.30; 3.64-6.96, P = .008) than a standard dot (velocity gain: 0.87; 0.82-0.92; position gain: 0.82; 0.72-0.92; proportion smooth pursuit: 0.87; 0.83-0.90; number of saccades: 7.75; 5.30-10.46). In contrast, changing the size of a standard dot stimulus from 1° to 2° did not have an effect on smooth pursuit in young adults (P > .05). Finally, smooth pursuit performance did not significantly differ in children for the different motion paradigms when using the animated stimulus (P > .05). CONCLUSIONS: Attention-grabbing and more dynamic stimuli, such as the developed animated stimulus, might potentially be useful for eye movement research. Finally, with such stimuli, children perform equally well irrespective of the motion paradigm used

Spatial summation across the visual field in strabismic and anisometropic amblyopia

Ricco’s area (the largest area of visual space in which stimulus area and intensity are inversely proportional at threshold) has previously been hypothesised to be a result of centre/surround antagonism in retinal ganglion cell receptive fields, but recent evidence suggests a sizeable cortical contribution. Here, Ricco’s area was measured in amblyopia, a condition in which retinal receptive fields are normal, to better understand its physiological basis. Spatial summation functions were determined at 12 visual field locations in both eyes of 14 amblyopic adults and 15 normal-sighted controls. Ricco’s area was significantly larger in amblyopic eyes than in fellow non-amblyopic eyes. Compared to the size of Ricco’s area in control eyes, Ricco’s area measured significantly larger in amblyopic eyes. Additionally, Ricco’s area in the fellow, non-amblyopic eye of amblyopic participants measured significantly smaller than in control eyes. Compared to controls, Ricco’s area was larger in amblyopic eyes and smaller in fellow non-amblyopic eyes. Amblyopia type, binocularity, and inter-ocular difference in visual acuity were significantly associated with inter-ocular differences in Ricco’s area in amblyopes. The physiological basis for Ricco’s area is unlikely to be confined to the retina, but more likely representative of spatial summation at multiple sites along the visual pathway

Behavioural Features of Cerebral Visual Impairment Are Common in Children With Down Syndrome

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

Voluntary flutter presenting during ophthalmoscopy: A case report

Voluntary flutter (sometimes known as “voluntary nystagmus”) is a conjugate saccadic oscillation of the eyes that occurs in some healthy individuals. It has no relation to pathological nystagmus, which can manifest in infancy or become acquired later in life. This report presents an unusual case of voluntary flutter that presented in a 20-year-old male with autism spectrum disorder during ocular examination via direct ophthalmoscopy. Refraction and ocular motor balance were normal, and visual acuity was good in each eye (−0.10 logMAR). During direct ophthalmoscopy, a fine intermittent tremor was initiated. The patient was referred for further assessment, and eye movements were recorded at 1,000 Hz with an EyeLink 1000 eye tracker. Upon request, the patient could manifest voluntary flutter again and sustain the eye movements with effort during convergence. The voluntary flutter consisted of back-to-back saccadic oscillations in a predominantly horizontal direction, with an average frequency of 13 Hz and an amplitude of ∼8°, both reducing over time. We speculate that the discomfort induced by the proximity of the clinician during direct ophthalmoscopy examination may have triggered the eye oscillations. Although the oscillations typically manifest during convergence, atypical forms of voluntary flutter can also occur during divergence. Voluntary flutter can be a useful differential diagnosis in patients with a recently onset apparent “nystagmus,” and no other neurological signs and symptoms

In-vivo anterior segment OCT imaging provides unique insight into cerulean blue-dot opacities and cataracts in Down syndrome

Down syndrome (DS) is frequently associated with cataract, but there remains scant information about DS cataract morphology. Supra-nuclear cataracts in DS have been proposed as indicative of betaamyloid (Aß) aggregation and thus potential biomarkers for Alzheimer’s (AD). This study employed anterior segment OCT (AS-OCT) and slit-lamp (SL) photography to image the crystalline lens in DS, compared with adult controls. Lens images were obtained post-dilation. Using MATLAB, AS-OCT images were analysed and lens opacities calculated as pixel intensity and area ratios. SL images were classifed using LOCS III. Subjects were n=28 DS (mean±SD 24.1±14.3years), and n=36 controls (54.0±3.4years). Forthe DS group,AS-OCT imaging revealed the frequent presence of small dot opacities (27 eyes, 50%) in the cortex and nucleus ofthe lens, covering an area ranging from 0.2–14%. There was no relation with age or visual acuity and these dot opacities (p>0.5) and they were not present in any control lenses. However, their location and morphology does not coincide with previous reports linking these opacities with Aß accumulation andAD. Four participants (14%) in the DS group had clinically signifcant age-related cataracts, butthere was no evidence of early onset of age-related cataracts in DS.Peer ReviewedPostprint (author's final draft

The effect of gaze angle on visual acuity in infantile nystagmus

Purpose: Most individuals with infantile nystagmus (IN) have an idiosyncratic gaze angle at which their nystagmus intensity is minimized. Some adopt an abnormal head posture to use this “null zone,” and it has therefore long been assumed that this provides people with nystagmus with improved visual acuity (VA). However, recent studies suggest that improving the nystagmus waveform could have little, if any, influence on VA; that is, VA is fundamentally limited in IN. Here, we examined the impact of the null zone on VA. Methods: Visual acuity was measured in eight adults with IN using a psychophysical staircase procedure with reversals at three horizontal gaze angles, including the null zone. Results: As expected, changes in gaze angle affected nystagmus amplitude, frequency, foveation duration, and variability of intercycle foveation position. Across participants, each parameter (except frequency) was significantly correlated with VA. Within any given individual, there was a small but significant improvement in VA (0.08 logMAR) at the null zone as compared with the other gaze angles tested. Despite this, no change in any of the nystagmus waveform parameters was significantly associated with changes in VA within individuals. Conclusions: A strong relationship between VA and nystagmus characteristics exists between individuals with IN. Although significant, the improvement in VA observed within individuals at the null zone is much smaller than might be expected from the occasionally large variations in intensity and foveation dynamics (and anecdotal patient reports of improved vision), suggesting that improvement of other aspects of visual performance may also encourage use of the null zone