BackgroundPrevious reports indicate an association between autism spectrum disorders (ASD) and disorders of mitochondrial oxidative phosphorylation. One study suggested that children with both diagnoses are clinically indistinguishable from children with idiopathic autism. There are, however, no detailed analyses of the clinical and laboratory findings in a large cohort of these children. Therefore, we undertook a comprehensive review of patients with ASD and a mitochondrial disorder.Methodology/Principal FindingsWe reviewed medical records of 25 patients with a primary diagnosis of ASD by DSM-IV-TR criteria, later determined to have enzyme- or mutation-defined mitochondrial electron transport chain (ETC) dysfunction. Twenty-four of 25 patients had one or more major clinical abnormalities uncommon in idiopathic autism. Twenty-one patients had histories of significant non-neurological medical problems. Nineteen patients exhibited constitutional symptoms, especially excessive fatigability. Fifteen patients had abnormal neurological findings. Unusual developmental phenotypes included marked delay in early gross motor milestones (32%) and unusual patterns of regression (40%). Levels of blood lactate, plasma alanine, and serum ALT and/or AST were increased at least once in 76%, 36%, and 52% of patients, respectively. The most common ETC disorders were deficiencies of complex I (64%) and complex III (20%). Two patients had rare mtDNA mutations of likely pathogenicity.Conclusions/SignificanceAlthough all patients' initial diagnosis was idiopathic autism, careful clinical and biochemical assessment identified clinical findings that differentiated them from children with idiopathic autism. These and prior data suggest a disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism.
Facebook is a place for people to connect and share; a place to form online communities and engage in discussion. Kern, et al. (2013) found that Facebook is also a place to commune with, and about, the dead in a public forum. Although most often mourning of a death is done privately within tight knit communities, online social networking sites and particularly Facebook R.I.P. pages are creating public participation in the memorialization of those who have passed. The present study examines Facebook R.I.P. pages as a catalyst for participation and creation of online communities. Gallant, et al. (2007) provided the framework for determining the depth of online community created by those who participate in the creation, maintenance, and involvement with Facebook R.I.P. pages. This study examines the Facebook R.I.P. pages using a content analysis to determine if indeed these pages represent online community as defined by Gallant, et al. The model created by Gallant, et al. includes the following heuristics used to define online community: interactive creativity, selective hierarchy, identity construction, rewards and costs, and artistic forms.
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