Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions.

A number of congenital and inherited diseases present with both ocular and psychiatric features. The genetic inheritance and phenotypic variants play a key role in disease severity. Early recognition of the signs and symptoms of those disorders is critical to earlier intervention and improved prognosis. Typically, the associations between these two medical subspecialties of ophthalmology and psychiatry are poorly understood by most practitioners so we hope to provide a narrative review to improve the identification and management of these disorders. We conducted a comprehensive review of the literature detailing the diseases with ophthalmic and psychiatric overlap that were more widely represented in the literature. Herein, we describe the clinical features, pathophysiology, molecular biology, diagnostic tests, and the most recent approaches for the treatment of these diseases. Recent studies have combined technologies for ocular and brain imaging such as optical coherence tomography (OCT) and functional imaging with genetic testing to identify the genetic basis for eye-brain connections. Additional work is needed to further explore these potential biomarkers. Overall, accurate, efficient, widely distributed and non-invasive tests that can help with early recognition of these diseases will improve the management of these patients using a multidisciplinary approach.

Peripheral inflammatory subgroup differences in anterior Default Mode network and multiplex functional network topology are associated with cognition in psychosis.

INTRODUCTION: High-inflammation subgroups of patients with psychosis demonstrate cognitive deficits and neuroanatomical alterations. Systemic inflammation assessed using IL-6 and C-reactive protein may alter functional connectivity within and between resting-state networks, but the cognitive and clinical implications of these alterations remain unknown. We aim to determine the relationships of elevated peripheral inflammation subgroups with resting-state functional networks and cognition in psychosis spectrum disorders. METHODS: Serum and resting-state fMRI were collected from psychosis probands (schizophrenia, schizoaffective, psychotic bipolar disorder) and healthy controls (HC) from the B-SNIP1 (Chicago site) study who were stratified into inflammatory subgroups based on factor and cluster analyses of 13 cytokines (HC Low n = 32, Proband Low n = 65, Proband High n = 29). Nine resting-state networks derived from independent component analysis were used to assess functional and multilayer connectivity. Inter-network connectivity was measured using Fisher z-transformation of correlation coefficients. Network organization was assessed by investigating networks of positive and negative connections separately, as well as investigating multilayer networks using both positive and negative connections. Cognition was assessed using the Brief Assessment of Cognition in Schizophrenia. Linear regressions, Spearman correlations, permutations tests and multiple comparison corrections were used for analyses in R. RESULTS: Anterior default mode network (DMNa) connectivity was significantly reduced in the Proband High compared to Proband Low (Cohen's d = -0.74, p = 0.002) and HC Low (d = -0.85, p = 0.0008) groups. Inter-network connectivity between the DMNa and the right-frontoparietal networks was lower in Proband High compared to Proband Low (d = -0.66, p = 0.004) group. Compared to Proband Low, the Proband High group had lower negative (d = 0.54, p = 0.021) and positive network (d = 0.49, p = 0.042) clustering coefficient, and lower multiplex network participation coefficient (d = -0.57, p = 0.014). Network findings in high inflammation subgroups correlate with worse verbal fluency, verbal memory, symbol coding, and overall cognition. CONCLUSION: These results expand on our understanding of the potential effects of peripheral inflammatory signatures and/or subgroups on network dysfunction in psychosis and how they relate to worse cognitive performance. Additionally, the novel multiplex approach taken in this study demonstrated how inflammation may disrupt the brain's ability to maintain healthy co-activation patterns between the resting-state networks while inhibiting certain connections between them.

Pediatric cranial deformations: demographic associations.

OBJECTIVE: No study has established a relationship between cranial deformations and demographic factors. While the connection between the Back to Sleep campaign and cranial deformation has been outlined, considerations toward cultural or anthropological differences should also be investigated. METHODS: The authors conducted a retrospective review of 1499 patients (age range 2 months to less than 19 years) who presented for possible trauma in 2018 and had a negative CT scan. The cranial vault asymmetry index (CVAI) and cranial index (CI) were used to evaluate potential cranial deformations. The cohort was evaluated for differences between sex, race, and ethnicity among 1) all patients and 2) patients within the clinical treatment window (2-24 months of age). Patients categorized as "other" and those for whom data were missing were excluded from analysis. RESULTS: In the CVAI cohort with available data (n = 1499, although data were missing for each variable), 800 (56.7%) of 1411 patients were male, 1024 (79%) of 1304 patients were Caucasian, 253 (19.4%) of 1304 patients were African American, and 127 (10.3%) of 1236 patients were of Hispanic/Latin American descent. The mean CVAI values were significantly different between sex (p < 0.001) and race (p < 0.001). However, only race was associated with differences in positional posterior plagiocephaly (PPP) diagnosis (p < 0.001). There was no significant difference in CVAI measurements for ethnicity (p = 0.968). Of the 520 patients in the treatment window cohort, 307 (59%) were male. Of the 421 patients with data for race, 334 were Caucasian and 80 were African American; 47 of the 483 patients with ethnicity data were of Hispanic/Latin American descent. There were no differences between mean CVAI values for sex (p = 0.404) or ethnicity (p = 0.600). There were significant differences between the mean CVAI values for Caucasian and African American patients (p < 0.001) and rate of PPP diagnosis (p = 0.02). In the CI cohort with available data (n = 1429, although data were missing for each variable), 849 (56.8%) of 1494 patients were male, 1007 (67.4%) of 1283 were Caucasian, 248 (16.6%) of 1283 were African American, and 138 patients with ethnicity data (n = 1320) of Hispanic/Latin American descent. Within the clinical treatment window cohort with available data, 373 (59.2%) of 630 patients were male, 403 were Caucasian (81.9%), 84 were African American (17.1%), and 55 (10.5%) of 528 patients were of Hispanic/Latin American descent. The mean CI values were not significantly different between sexes (p = 0.450) in either cohort. However, there were significant differences between CI measurements for Caucasian and African American patients (p < 0.001) as well as patients of Hispanic/Latin American descent (p < 0.001) in both cohorts. CONCLUSIONS: The authors found no significant associations between cranial deformations and sex. However, significant differences exist between Caucasian and African American patients as well as patients with Hispanic/Latin American heritage. These findings suggest cultural or anthropological influences on defining skull deformations. Further investigation into the factors contributing to these differences should be undertaken.

Positional posterior plagiocephaly: a single-center review.

OBJECTIVE: The authors sought to assess the prevalence and severity of positional posterior plagiocephaly (PPP) in the pediatric population at a tertiary care center. METHODS: The authors conducted a retrospective review of 1429 consecutive patients aged 2 months to 18 years who presented with head trauma and a negative CT scan in 2018. The cohort was stratified by age. The cranial vault asymmetry index (CVAI) was calculated at the superior orbital rim. Asymmetry was categorized according to the following CVAI scores: mild (3.5%-7%), moderate (7%-12%), and severe (> 12%). Patients were grouped by age to assess PPP at different stages of head development: group 1, 2-5 months; group 2, 6-11 months; group 3, 12-23 months; group 4: 2-4 years; group 5, 5-8 years; group 6, 9-12 years; and group 7, 13-18 years. Patients with a history of shunted hydrocephalus, craniosynostosis, skull surgery, or radiographic evidence of intracranial trauma were excluded. RESULTS: The overall cohort prevalence of PPP was 24.8% (354 patients). PPP prevalence was higher among younger patients from groups 1-3 (40.4%, 33.5%, and 0.8%, respectively). There was a continued decline in PPP by age in groups 4-7 (26.4%, 20%, 20%, and 10.8%, respectively). Mild cranial vault asymmetry was noted most often (78.0%, 276 patients), followed by moderate (19.5%, 69 patients) and severe (2.5%, 9 patients). There were no patients in group 6 or 7 with severe PPP. CONCLUSIONS: PPP is prevalent in pediatric populations and most commonly presents as a case of mild asymmetry. Although there was an overall decline of PPP prevalence with increasing age, moderate asymmetry was seen in all age groups. No patients in the cohort had severe asymmetry that persisted into adolescence.