Butyrate (BT) is a ubiquitous short-chain fatty acid (SCFA) principally derived from the enteric microbiome. BT positively modulates mitochondrial function, including enhancing oxidative phosphorylation and beta-oxidation has been proposed as neuroprotectant. other SCFAs have also associated with autism spectrum disorders (ASD), condition dysfunction. We developed lymphoblastoid cell line (LCL) model of ASD, subset LCLs demonstrating dysfunction (AD-A) another normal function (AD-N). Given...

We sought to determine whether high-dose folinic acid improves verbal communication in children with non-syndromic autism spectrum disorder (ASD) and language impairment a double-blind placebo control setting. Forty-eight (mean age 7 years 4 months; 82% male) ASD were randomized receive 12 weeks of (2 mg kg−1 per day, maximum 50 day; n=23) or (n=25). Children subtyped by glutathione folate receptor-α autoantibody (FRAA) status. Improvement communication, as measured ability-appropriate...

Abstract Propionic acid (PPA) is a ubiquitous short-chain fatty acid, which major fermentation product of the enteric microbiome. PPA normal intermediate metabolism and found in foods, either naturally or as preservative. its derivatives have been implicated both health disease. Whereas an energy substrate has many proposed beneficial effects, it also associated with human disorders involving mitochondrial dysfunction, including propionic acidemia autism spectrum (ASDs). We aimed to...

Objective To adapt and pilot test a multicomponent motivational intervention that includes family-based contingency management (CM) for adolescents with poorly controlled type 1 diabetes. Methods A total of 17 adolescents, age 12–17 years (M = 14.8, SD 1.5), diabetes (duration M 6.2 years, 4.5) mean HbA1c 11.6% (SD 2.5%) were enrolled. Adolescents their parents received 14 weeks interviewing, clinic-based CM, parent-directed CM targeted increased blood glucose monitoring (BGM). Results...

Folate receptor α (FRα) autoantibodies (FRAAs) are prevalent in autism spectrum disorder (ASD). They disrupt the transportation of folate across blood-brain barrier by binding to FRα. Children with ASD FRAAs have been reported respond well treatment a form known as folinic acid, suggesting that they may be an important subgroup identify and treat. There has no investigation whether manifest unique behavioral physiological characteristics. Thus, this study we measured both blocking FRAAs,...

The identification of brain-targeted autoantibodies in children with autism spectrum disorder (ASD) raises the possibility autoimmune encephalopathy (AIE). Intravenous immunoglobulin (IVIG) is effective for AIE and some ASD. Here, we present largest case series ASD treated IVIG. Through an clinic, screened 82 AIE, 80 them IVIG was recommended 49 (60%) 31 (38%) receiving treatment under our care team. majority parents (90%) reported improvement 71% reporting improvements two or more symptoms....

Abstract We investigate the role of mitochondrion, an organelle highly sensitive to environmental agents, in influence prenatal air pollution exposure on neurodevelopment and behavior 96 children with autism spectrum disorder (ASD) [45 neurodevelopmental regression (NDR); 76% Male; mean (SD) age 10 y 9 m (3 m)]. Mitochondrial function was assessed using Seahorse XFe96 fresh peripheral blood mononuclear cells. Second third trimester average maximal daily fine particulate matter diameter ≤2.5...

Folate receptor α ( FR α) autoantibodies FRAA s) are prevalent in autism spectrum disorder ASD ). s disrupt folate transport across the blood‐brain barrier by binding to α. Thyroid dysfunction is frequently found children with . We measured blocking and thyroid‐stimulating hormone TSH ), free thyroxine (T4) FT 4), total triiodothyronine (T3) TT 3), reverse T3 rT thyroid‐releasing TRH ) other metabolites 87 , 84 of whom also underwent behaviour cognition testing 42 s, 4 were at two time...

Abstract Neurodevelopmental regression (NDR) is a subtype of autism spectrum disorder (ASD) that manifests as loss previously acquired developmental milestones. Early life dysregulation nutritional metals and/or exposure to toxic have been associated with ASD, but the underlying biological mechanisms by which influence neurodevelopment remain unclear. We hypothesize influences through bioenergetics. Prenatal and early postnatal metal exposures were measured using validated tooth-matrix...

Autism Spectrum Disorder (ASD) is associated with many variations in metabolism, but the ex-act correlates of these metabolic disturbances behavior and development their links to other core disruptions are understudied. In this study, large-scale targeted LC-MS/MS metabolomic analysis was conducted on fasting morning plasma samples from 57 children ASD (29 neurodevelopmental regression, NDR) 37 healthy controls similar age gender. Linear model determined signatures without NDR, measures...

Treatment for mitochondrial dysfunction is typically guided by expert opinion with a paucity of empirical evidence the effect treatment on activity. We examined citrate synthase and Complex I IV activities using validated buccal swab method in 127 children autism spectrum disorder without disease, portion which were common supplements. Mixed-model linear regression determined whether specific supplements altered absolute activity as well relationship between components. was increased fatty...

Autism spectrum disorder (ASD) is a neurodevelopmental that associated with unique changes in mitochondrial metabolism, including elevated respiration rates and morphological alterations. We examined electron transport chain (ETC) complex activity fibroblasts derived from 18 children ASD as well morphology measurements the participants four typically developing controls. In participants, symptoms severity was measured by Social Responsiveness Scale Aberrant Behavior Checklist. Mixed-model...

Autism spectrum disorder (ASD) is a developmental which currently only diagnosed through behavioral testing. Impaired folate-dependent one carbon metabolism (FOCM) and transsulfuration (TS) pathways have been implicated in ASD, recently study involving multivariate analysis based upon Fisher Discriminant Analysis returned very promising results for predicting an ASD diagnosis. This article takes another step toward the goal of developing biochemical diagnostic by comparing five...

Introduction: Residing in a neighborhood with greater destinations – places where you engage the community aside from home and work has been associated more favorable functioning, quality of life, particularly among moderate-severe stroke survivors. Prior studies were limited by cross-sectional design, confounding, or defining census tract. Hypothesis: Greater number within 0.5-mile radius survivor’s residence is poststroke depression over first year. Methods: We included non-Hispanic White...

The prevalence of autism spectrum disorder (ASD) is high, yet the etiology this still uncertain. Advancements in genetic analysis have provided ability to identify potential changes that may contribute ASD. Interestingly, several syndromes been linked metabolic dysfunction, suggesting an avenue for treatment. In case study, we report siblings with ASD who had similar initial phenotypic presentations. Whole exome sequencing (WES) revealed a novel c.795delT mutation WDR45 gene affecting girl,...

Autism spectrum disorder (ASD) has been associated with mitochondrial dysfunction but few studies have examined the relationship between function and ASD symptoms. We measured Complex I IV citrate synthase activities in 76 children who were not receiving vitamin supplementation or medication. also language using Preschool Language Scales Clinical Evaluation of Fundamentals, adaptive behavior Vineland Adaptive Behavioral Scale, social Social Responsiveness Scale Aberrant Behavior Checklist,...

Obesity is increasing worldwide in prepubertal children, reducing the age of onset associated comorbidities, including type 2 diabetes. Sulfur‐containing amino acids, methionine, cysteine, and their derivatives play important roles transmethylation transsulfuration pathways. Dysregulation these pathways leads to alterations cellular methylation patterns an imbalanced redox state. Therefore, we tested hypothesis that one‐carbon metabolism already dysregulated children with obesity. Peripheral...

Several studies associate autism spectrum disorder (ASD) pathophysiology with metabolic abnormalities related to DNA methylation and intracellular redox homeostasis. In this regard, three completed clinical trials are reexamined in work: treatment (i) methylcobalamin (MeCbl) combination low-dose folinic acid (LDFA), (ii) tetrahydrobiopterin, (iii) high-dose (HDFA) for counteracting the folate-dependent one-carbon metabolism (FOCM) transsulfuration (TS) pathways also improving ASD-related...

Autism spectrum disorder (ASD) is a behaviorally defined that now thought to affect approximately 1 in 69 children the United States. In most cases, etiology unknown, but several studies point interaction of genetic predisposition with environmental factors. The immune system have causative role ASD, and specific implicated T lymphocytes, monocytes, natural killer (NK) cells, certain cytokines. human leukocyte antigen (HLA) involved underlying process for shaping an individual's system, HLA...

Abstract Background Spatial QRS|T angle is a predictor of cardiovascular events. Those with metabolic syndrome have an increased risk morbidity and mortality. This study investigated the association between spatial angle. Methods We obtained data from National Health Nutritional Examination Survey III on 6,249 adults. calculated standard 12‐lead electrocardiogram classified it as abnormal, borderline, or normal. identified if at least three following were present: abdominal obesity, elevated...

Autism spectrum disorder (ASD) affects 1 in 45 individuals the United States, yet effective treatments are to be defined. There is growing evidence that ASD associated with abnormalities several metabolic pathways, including inter-connected folate, methylation and glutathione pathways. Several can therapeutically target these pathways have been tested preliminary clinical trials. The combination of methylcobalamin (mB12) low-dose folinic acid (LDFA) sapropterin, a synthetic form...

Patients with autism spectrum disorder (ASD) may have an increase in blood acyl-carnitine (AC) concentrations indicating a mitochondrial fatty acid β-oxidation (mtFAO) impairment. However, there are no data on systematic mtFAO analyses ASD. We analyzed tritiated palmitate oxidation rates fibroblasts from patients ASD before and after resveratrol (RSV) treatment, according to methods used for the diagnosis of congenital defects mtFAO. participants (N = 10, 60%; male; mean age (SD) 7.4 (3.2)...