Vision Impairments in Young Adults with Down Syndrome

Martin-Perez, Yolanda; Gonzalez-Montero, Guadalupe; Gutierrez-Hernandez, Angel L.; Blázquez-Sánchez, Vanesa; Sánchez-Ramos, Celia

doi:10.3390/vision7030060

Cited by 2 publications

(1 citation statement)

References 42 publications

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“…Regular hearing assessments are crucial for early intervention [115]. Ocular problems like cataracts, strabismus (crossed eyes), and refractive errors are more common among those with Down syndrome [118]. Hypothyroidism, which is an underactive thyroid gland, is more prevalent in people with Down syndrome.…”

Section: Associated Conditions and Disordersmentioning

confidence: 99%

Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis

Koul,

Ahmad,

Bhat

et al. 2023

Biomedicines

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Down syndrome arises from chromosomal non-disjunction during gametogenesis, resulting in an additional chromosome. This anomaly presents with intellectual impairment, growth limitations, and distinct facial features. Positive correlation exists between maternal age, particularly in advanced cases, and the global annual incidence is over 200,000 cases. Early interventions, including first and second-trimester screenings, have improved DS diagnosis and care. The manifestations of Down syndrome result from complex interactions between genetic factors linked to various health concerns. To explore recent advancements in Down syndrome research, we focus on the integration of artificial intelligence (AI) and machine learning (ML) technologies for improved diagnosis and management. Recent developments leverage AI and ML algorithms to detect subtle Down syndrome indicators across various data sources, including biological markers, facial traits, and medical images. These technologies offer potential enhancements in accuracy, particularly in cases complicated by cognitive impairments. Integration of AI and ML in Down syndrome diagnosis signifies a significant advancement in medical science. These tools hold promise for early detection, personalized treatment, and a deeper comprehension of the complex interplay between genetics and environmental factors. This review provides a comprehensive overview of neurodevelopmental and cognitive profiles, comorbidities, diagnosis, and management within the Down syndrome context. The utilization of AI and ML represents a transformative step toward enhancing early identification and tailored interventions for individuals with Down syndrome, ultimately improving their quality of life.

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Section: Associated Conditions and Disordersmentioning

confidence: 99%

Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis

Koul,

Ahmad,

Bhat

et al. 2023

Biomedicines

View full text Add to dashboard Cite

show abstract

Prevalence and etiology of strabismus in Down syndrome: A systematic review and meta-analysis with a focus on ethnic differences in the esotropia/exotropia ratio

von Bartheld,

Chand,

Wang

2024

Preprint

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Purpose. We sought to determine the prevalence of strabismus and the esotropia/exotropia ratio in Down syndrome. Wide ranges of an increased strabismus prevalence have been reported and it is unclear by how much esotropia exceeds exotropia in people with Down syndrome. Methods. We compiled in a systematic review and meta-analysis the results of over 100 studies that report the strabismus prevalence and ratio of esotropia/exotropia in cohorts of Down syndrome. We calculated the pooled global prevalence and established the geographical distribution of the strabismus prevalence and the esotropia/exotropia ratio. Results. The ethnically-adjusted global prevalence of strabismus in Down syndrome is 30.2%. In subjects 15 years and older, the global prevalence is 53.2%, and the lifetime prevalence is 51.0%. In populations which normally have more esotropia than exotropia (e.g., Caucasians), Down syndrome subjects have a further increased bias towards esotropia. In populations which normally have more exotropia (e.g., West Africans, Asians and Hispanics), Down syndrome subjects have a significantly lower esotropia/exotropia ratio (3.21) than reported in Caucasians with Down syndrome (9.98). Conclusion. Worldwide, about 1.81 million people with Down syndrome have strabismus: 1.42 million of them have esotropia, and 0.37 million have exotropia. Differences in the esotropia/exotropia ratio between ethnicities point to the orbital anatomy as a major contributing factor to the etiology of strabismus in Down syndrome. The narrow-set eyes (reduced orbital width) in Down syndrome favor esotropia over exotropia, especially in Caucasians, thus explaining why Down syndrome patients from different ethnicities have different prevalences of esotropia and exotropia.

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Vision Impairments in Young Adults with Down Syndrome

Cited by 2 publications

References 42 publications

Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis

Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis

Prevalence and etiology of strabismus in Down syndrome: A systematic review and meta-analysis with a focus on ethnic differences in the esotropia/exotropia ratio

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