Cerebral/Cortical visual impairment (CVI) in Down syndrome: a case series
Bibliographic record
Abstract
Cerebral/Cortical visual impairment (CVI), a brain-based visual condition, is a leading cause of childhood blindness and low vision but remains underdiagnosed in individuals with Down syndrome (DS). This report presents three case studies of adolescents with DS and CVI (DS + CVI), illustrating how CVI can manifest alongside the developmental, cognitive, behavioral, and social profiles of individuals with DS. We describe comprehensive ophthalmological evaluations, assessment for visual perceptual deficits with a screener questionnaire, functional vision assessments, and neuroimaging (when available). Through a detailed retrospective examination of these cases, we explore the complex interplay between CVI and DS, emphasizing how CVI-related challenges-such as difficulties with visual attention, spatial perception, processing, and navigation-are often misattributed to DS alone or to other more commonly recognized co-occurring conditions in DS. Diagnostic overshadowing, coupled with a lack of standardized screening tools, has led to delayed diagnoses and missed opportunities for intervention. Our findings highlight the importance of recognizing CVI in individuals with DS using reliable tools for assessment of functional vision to better appreciate the effect on their diverse developmental outcomes, and to incorporate CVI into our understanding of the DS phenotype. These case reports underscore the need for further research to determine the prevalence and impact of CVI in DS and advocate for the development of tailored screening protocols and evidence-based interventions to support individuals with DS + CVI across the lifespan.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".