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Purpose: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants. This study aims to further delineate the spectrum of the SETD1B-related syndrome based on characterizing an expanded patient cohort., Methods: We perform an in-depth clinical characterization of a cohort of 36 unpublished individuals with SETD1B sequence variants, describing their molecular and phenotypic spectrum. Selected variants were functionally tested using in vitro and genome-wide methylation assays., Results: Our data present evidence for a loss-of-function mechanism of SETD1B variants, resulting in a core clinical phenotype of global developmental delay, language delay including regression, intellectual disability, autism and other behavioral issues, and variable epilepsy phenotypes. Developmental delay appeared to precede seizure onset, suggesting SETD1B dysfunction impacts physiological neurodevelopment even in the absence of epileptic activity. Males are significantly overrepresented and more severely affected, and we speculate that sex-linked traits could affect susceptibility to penetrance and the clinical spectrum of SETD1B variants., Conclusion: Insights from this extensive cohort will facilitate the counseling regarding the molecular and phenotypic landscape of newly diagnosed patients with the SETD1B-related syndrome., (© 2021. The Author(s).)

Case: An 11-year-old boy demonstrated chronic medial hindfoot pain. A 12-year-old boy experienced acute pain and swelling in his right medial ankle and hindfoot after a fall. This is the first report of sustentaculum tali fractures adjacent to a talocalcaneal tarsal coalition, likely resulting from a stress riser created by a rigid subtalar joint., Conclusion: These 2 cases represent unique causes of foot pain in the setting of tarsal coalitions, never before described. Patient-reported outcome measures demonstrated expected improved outcomes after excision of tarsal coalition. Awareness to this possibility will help clinicians treating foot and ankle conditions in children optimize their care., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/B399)., (Copyright © 2021 by The Journal of Bone and Joint Surgery, Incorporated.)

Purpose of Review: Myths, widely held but false or unproven beliefs, exist in pediatric orthopedics, with the most common examples related to flexible flatfeet, in-toeing/out-toeing, W-sitting, and toe-walking. Concerns regarding these findings and suggested treatments, unfounded in science, may be passed along verbally or published through various media, without citation. The current review investigates these myths and provides up to date recommendations on diagnosis and treatment (or lack of necessary treatment) for these common pediatric orthopedic findings., Recent Findings: Orthotics used in childhood do not alter foot development for flexible flatfeet. W-sitting is not associated with developmental dysplasia of the hip, and there is no scientific evidence to support that it leads to contractures, hip dislocations, or functional deficits., Summary: Misinformation about normal variants of growth in childhood and suggested treatments are rampant and can be found published through various media without citation, as supportive scientific studies do not exist or existing studies refute the claims. Flexible flatfeet, in-toeing/out-toeing, W-sitting, and toe-walking typically improve throughout childhood without intervention. Physical therapy, orthotics and bracing have not been proven effective. Treatment is required in rare scenarios and should be directed by the orthopedic surgeon., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

Deficits in executive functioning have been associated with aggressive and violent behavior toward intimate partners. However, it is unclear what specific mechanisms are being affected by cognitive deficits that increase an individual's tendency to become aggressive. The current study examined empathy as a mediating factor between deficits in working memory and perpetration of intimate partner aggression and violence. Men in heterosexual relationships ( N = 49) were administered a measure of visual-spatial working memory, and questionnaire measures of head injury and empathy. During a second session, men participated in a conflict discussion with their female partner that was coded for aggressive behavior. Female partners also reported on men's physical and psychological abuse. Working memory was positively related to cognitive and affective empathy, and negatively related to men's physical abuse perpetration and observed aggression during the conflict discussion. The effects of working memory on observed aggression during the conflict were fully mediated by cognitive and affective empathy. Additionally, the effects of working memory on reported physical IPV frequency were fully mediated by affective empathy. Deficits in working memory may decrease men's ability to use empathetic processes, resulting in increased aggression and violence toward their intimate partners. Clinically, incorporating empathy training in battering intervention programs may be helpful, especially among men with deficits in cognitive functioning.

Objective: We aimed to study the role of coding VPS13C variants in a large cohort of patients with late-onset Parkinson disease (PD) (LOPD)., Methods: VPS13C and its untranslated regions were sequenced using targeted next-generation sequencing in 1,567 patients with PD and 1,667 controls from 3 cohorts. Association tests of rare potential homozygous and compound heterozygous variants and burden tests for rare heterozygous variants were performed. Common variants were analyzed using logistic regression adjusted for age and sex in each of the cohorts, followed by a meta-analysis., Results: No biallelic carriers of rare VPS13C variants were found among patients, and 2 carriers of compound heterozygous variants were found in 2 controls. There was no statistically significant burden of rare (minor allele frequency [MAF] <1%) or very rare (MAF <0.1%) coding VPS13C variants in PD. A VPS13C haplotype including the p.R153H-p.I398I-p.I1132V-p.Q2376Q variants was nominally associated with a reduced risk for PD (meta-analysis of the tagging SNP p.I1132V [odds ratio = 0.48, 95% confidence interval = 0.28-0.82, p = 0.0052]). This haplotype was not in linkage disequilibrium with the known genome-wide association study top hit., Conclusions: Our results do not support a role for rare heterozygous or biallelic VPS13C variants in LOPD. Additional genetic replication and functional studies are needed to examine the role of the haplotype identified here associated with reduced risk for PD., (Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)