BackgroundAutism is a common neurodevelopmental syndrome. Numerous rare genetic etiologies are reported; most cases are idiopathic.Methodology/Principal FindingsTo uncover important gene dysregulation in autism we analyzed carefully selected idiopathic autistic and control cerebellar and BA19 (occipital) brain tissues using high resolution whole genome gene expression and whole genome DNA methylation microarrays. No changes in DNA methylation were identified in autistic brain but gene expression abnormalities in two areas of metabolism were apparent: down-regulation of genes of mitochondrial oxidative phosphorylation and of protein translation. We also found associations between specific behavioral domains of autism and specific brain gene expression modules related to myelin/myelination, inflammation/immune response and purinergic signaling.Conclusions/SignificanceThis work highlights two largely unrecognized molecular pathophysiological themes in autism and suggests differing molecular bases for autism behavioral endophenotypes.

Introduction/Aims: The purpose of this literature review is to develop an evidencebased guideline for the use of neuromuscular ultrasound in the diagnosis of ulnar neuropathy at the elbow (UNE). The proposed research question was: "In patients with suspected UNE, does ulnar nerve enlargement as measured with ultrasound accurately identify those patients with UNE?" Methods: A systematic review and meta-analysis was performed, and studies were classified according to American Academy of Neurology criteria for rating articles for diagnostic accuracy.Results: Based on Class I evidence in four studies, it is probable that neuromuscular ultrasound measurement of the ulnar nerve at the elbow, either of diameter or crosssectional area (CSA), is accurate for the diagnosis of UNE.Recommendation: For patients with symptoms and signs suggestive of ulnar neuropathy, clinicians should offer ultrasonographic measurement of ulnar nerve cross-sectional area or diameter to confirm the diagnosis and localize the site of compression (Level B).

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Background Peripheral polyneuropathies (PN) are common neuromuscular conditions. The role of electrodiagnostic study (EDX) in diagnosis of PN is not well‐defined. Methods We performed a retrospective chart review of patients referred for EDX evaluation of PN. Results Of 162 patients analyzed, 23 had pure peripheral neuropathy (pPN; 14.2%), 29 had peripheral neuropathy and another diagnosis (PN+; 17.9%), 51 had an alternative diagnosis (nonPN; 31.5%), and 59 had normal studies (36.4%). In univariable analysis, age (P < .001) and gender (P = .004) were weakly associated with final diagnosis. In multinomial logistic regression analysis, significant predictors included age (odds ratio [OR] for nonPN/PN+:1.07 per year; 95% confidence interval [CI], 1.03–1.11), gender (OR for PN+:0.2, 95% CI, 0.07–0.61), and diabetes/prediabetes (OR for pPN:3.29; 95% CI, 1.17–9.27). Conclusions These data suggest that EDX commonly yields additional or nonPNs in patients referred with a diagnosis of PN, and although some variables predict electrodiagnosis, none have a large enough effect to suggest poor utility in any subpopulation.

Pediatric-onset multiple sclerosis (POMS), once thought to be rare, is now being diagnosed in increasing numbers in children. Despite improvements to diagnostic criteria, the diagnosis and management of POMS remains challenging. The aim of this study is to retrospectively describe a growing POMS patient population seen at a single center over a 13 year period. Epidemiologic, clinical, neuroimaging, laboratory features and therapeutic management and outcome data were collected and analyzed. These data support associations between MS and environmental triggers such as obesity and vitamin D deficiency. Presenting symptoms, magnetic resonance imaging and laboratory findings were consistent with the existing literature; however, the prevalence of cortical lesions and abnormal saccadic pursuit is higher than other reports. Data also demonstrate a shift in practice from first- to second-line therapies over the observed period.