Autism spectrum disorder (ASD) is characterised by deficits in the ability to socialise, communicate and use imagination, and displays of stereotypical behaviour. It is widely accepted that ASD involves a disorder in brain development. However, the real causes of the neurodevelopmental disorders associated with ASD are not clear. In this respect, it has been found that a majority of children with ASD display gastrointestinal symptoms, and an increased intestinal permeability. Moreover, large differences in microbiotic composition between ASD patients and controls have been reported. Therefore, nutrition-related factors have been hypothesised to play a causal role in the aetiology of ASD and its symptoms. Through a review of the literature, it was found that abnormalities in carbohydrate digestion and absorption could explain some of the gastrointestinal problems observed in a subset of ASD patients, although their role in the neurological and behavioural problems remains uncertain. In addition, the relationship between an improved gut health and a reduction of symptoms in some patients was evaluated. Recent trials involving gluten-free diets, casein-free diets, and pre- and probiotic, and multivitamin supplementation show contradictive but promising results. It can be concluded that nutrition and other environmental influences might trigger an unstable base of genetic predisposition, which may lead to the development of autism, at least in a subset of ASD patients. Clear directions for further research to improve diagnosis and treatment for the different subsets of the disorder are provided.
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http://dx.doi.org/10.1017/S0954422414000110 | DOI Listing |
Mol Genet Genomic Med
January 2025
Laboratory of Ontogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.
Background: Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. The syndrome is characterized by phenotypic polymorphism and reduced penetrance.
Methods: Patients were investigated by performing a cytogenetic analysis of GTG-banded metaphases, aCGH with the SurePrint G3 Human CGH Microarray 8×60K, qPCR, FISH, and WES.
Cureus
November 2024
Child Psychiatry, Adana City Training and Research Hospital, Adana, TUR.
Objective: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that emerges in early childhood and is characterized by difficulties in social communication, repetitive behaviors, and restricted interests. The Ras homolog (Rho)/Rho-kinase signaling pathway plays a critical role in maintaining synaptic structure and function, as it regulates the actin cytoskeleton. This study aims to investigate the expression of the Ras homolog (Rho) family member A (), Rho-kinase 1 (), and Rho-kinase 2 () genes within this pathway in relation to ASD.
View Article and Find Full Text PDFFront Pharmacol
December 2024
Department of Clinical Pharmacology and Therapeutics, Seoul National University College of Medicine, Seoul, Republic of Korea.
AST-001, a novel syrup formulation of L-serine, was developed for the treatment of autism spectrum disorders (ASD) in pediatric patients. This study aimed to establish a pharmacokinetic (PK)-pharmacodynamic (PD) model to elucidate the effect of AST-001 on adaptive behavior in children with ASD. Due to the absence of PK samples in pediatric patients, a previously published population PK model was used to link the PD model by applying an allometric scale to body weight.
View Article and Find Full Text PDFCureus
November 2024
Emergency Medicine, Franciscan Health Olympia Fields, Olympia Fields, USA.
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by social, communication, and behavioral challenges. Emergency medical services (EMS) environments, with their loud noises, bright lights, and unfamiliar personnel, often exacerbate these challenges, making care for individuals with ASD particularly complex. To address these challenges, the Franciscan Crown Point EMS system introduced the "Ben's Blue Bags" (BBBs) program.
View Article and Find Full Text PDFBMC Cardiovasc Disord
December 2024
Department of Cardiology, Zhongshan Hospital, Fudan University, National Clinical Research Center for Interventional Medicine, Shanghai Institute of Cardiovascular Diseases, 180 Fenglin Road, Xuhui District, Shanghai, 200032, China.
Background: Complete endothelialization is often not achieved within 6 months after implantation of an atrial septal defect (ASD) occluder, which may lead to microthrombus or thrombosis. This study aimed to assess the endothelialization and morphology of a novel puncturable ASD occluder (ReAces) compared with traditional occluders 1 year post-implantation using computed tomography angiography (CTA).
Methods: Fifteen patients from each group in a randomized controlled trial comparing ReAces with traditional occluders were included at the 1-year follow-up at Zhongshan Hospital, Fudan University.
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