Association between Autism Spectrum Disorder (ASD) and vision problems. A systematic review and meta-analysis

Perna, John; Bellato, Alessio; Ganapathy, Preethi S.; Solmi, Marco; Zampieri, Andrea; Faraone, Stephen V.; Cortese, Samuele

doi:10.1038/s41380-023-02143-7

Cited by 4 publications

(3 citation statements)

References 128 publications

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“…The prevalence of strabismus is also increased in certain neurological conditions including autism spectrum disorder (ASD) compared to the general population. 38 A recent study has implicated the involvement of WNT2 polymorphisms with altered cortical thickness in patients with ASD. 39 Altered cortical thickness has also been reported in CS patients.…”

Section: Discussionmentioning

confidence: 99%

ExploringWNT2Polymorphisms in Comitant Strabismus: A Genetic Association Study

Zehra,

von Bartheld,

Agarwal

et al. 2024

Preprint

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Background: Strabismus is a complex oculomotor condition characterized by a misalignment of the visual axis. The genetics of strabismus are poorly defined although a few candidate genes have been identified, among which is the WNT2 gene. Our study was designed to assess the association of single nucleotide polymorphisms (SNPs) of WNT2 in Pakistani strabismus patients. Methods: A total of six SNPs, three intronic and three in the 3 untranslated region, were screened in the current study. Logistic regression was performed using a dominant, recessive and additive model to determine the association of SNPs with strabismus and its clinical subtypes: esotropia and exotropia. Furthermore, haplotype analysis was performed. Results: Regression analysis revealed an association of rs2896218, rs3779550, rs2285544 and rs4730775 with strabismus under the dominant model. When analyzed separately, rs2896218 and rs2285544 were found to be associated with both esotropia and exotropia, while rs4730775 was significantly associated only with exotropia under the dominant model. Based on clinical parameters, rs2896218, rs2285544 and rs4730775 were also found to be associated with the group of strabismus patients who were diagnosed at birth, but not in the group of patients who were diagnosed later in life. Haplotype analysis revealed that the haplotype A T T (corresponding to rs2896218, rs3779550 and rs2285544) was significantly more prevalent in the strabismus group. Conclusion: Overall, the results of the present study suggests an association of WNT2 polymorphisms with strabismus and its subtypes in the Pakistani population, though further studies are needed to elucidate their role in strabismus etiology.

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Section: Discussionmentioning

confidence: 99%

ExploringWNT2Polymorphisms in Comitant Strabismus: A Genetic Association Study

Zehra,

von Bartheld,

Agarwal

et al. 2024

Preprint

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“…Retinal photographs have been proposed as a potential objective screening tool for ASD, with the theoretical background that the retina may be used to indirectly assess structural abnormalities of the brain . Accordingly, retinal alterations in individuals with ASD have been observed compared with individuals with typical development (TD) . In a previous study, machine learning models were developed to screen for ASD using retinal photographs, with reported sensitivity of 0.96 (95% CI, 0.76-1.00) and specificity of 0.91 (95% CI, 0.71-0.99) .…”

Section: Introductionmentioning

confidence: 99%

“… 12 , 13 Accordingly, retinal alterations in individuals with ASD have been observed compared with individuals with typical development (TD). 14 , 15 , 16 , 17 , 18 In a previous study, machine learning models were developed to screen for ASD using retinal photographs, with reported sensitivity of 0.96 (95% CI, 0.76-1.00) and specificity of 0.91 (95% CI, 0.71-0.99). 19 Nevertheless, these results were difficult to generalize owing to the small number of participants.…”

Section: Introductionmentioning

confidence: 99%

Development of Deep Ensembles to Screen for Autism and Symptom Severity Using Retinal Photographs

Kim,

Hong,

Choi

et al. 2023

JAMA Netw Open

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ImportanceScreening for autism spectrum disorder (ASD) is constrained by limited resources, particularly trained professionals to conduct evaluations. Individuals with ASD have structural retinal changes that potentially reflect brain alterations, including visual pathway abnormalities through embryonic and anatomic connections. Whether deep learning algorithms can aid in objective screening for ASD and symptom severity using retinal photographs is unknown.ObjectiveTo develop deep ensemble models to differentiate between retinal photographs of individuals with ASD vs typical development (TD) and between individuals with severe ASD vs mild to moderate ASD.Design, Setting, and ParticipantsThis diagnostic study was conducted at a single tertiary-care hospital (Severance Hospital, Yonsei University College of Medicine) in Seoul, Republic of Korea. Retinal photographs of individuals with ASD were prospectively collected between April and October 2022, and those of age- and sex-matched individuals with TD were retrospectively collected between December 2007 and February 2023. Deep ensembles of 5 models were built with 10-fold cross-validation using the pretrained ResNeXt-50 (32×4d) network. Score-weighted visual explanations for convolutional neural networks, with a progressive erasing technique, were used for model visualization and quantitative validation. Data analysis was performed between December 2022 and October 2023.ExposuresAutism Diagnostic Observation Schedule–Second Edition calibrated severity scores (cutoff of 8) and Social Responsiveness Scale–Second Edition T scores (cutoff of 76) were used to assess symptom severity.Main Outcomes and MeasuresThe main outcomes were participant-level area under the receiver operating characteristic curve (AUROC), sensitivity, and specificity. The 95% CI was estimated through the bootstrapping method with 1000 resamples.ResultsThis study included 1890 eyes of 958 participants. The ASD and TD groups each included 479 participants (945 eyes), had a mean (SD) age of 7.8 (3.2) years, and comprised mostly boys (392 [81.8%]). For ASD screening, the models had a mean AUROC, sensitivity, and specificity of 1.00 (95% CI, 1.00-1.00) on the test set. These models retained a mean AUROC of 1.00 using only 10% of the image containing the optic disc. For symptom severity screening, the models had a mean AUROC of 0.74 (95% CI, 0.67-0.80), sensitivity of 0.58 (95% CI, 0.49-0.66), and specificity of 0.74 (95% CI, 0.67-0.82) on the test set.Conclusions and RelevanceThese findings suggest that retinal photographs may be a viable objective screening tool for ASD and possibly for symptom severity. Retinal photograph use may speed the ASD screening process, which may help improve accessibility to specialized child psychiatry assessments currently strained by limited resources.

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