What is the cause for increased autism?5 answersThe surge in autism prevalence is attributed to a combination of factors. The Quantitative Threshold Exposure (QTE) hypothesis suggests that high-level exposure to various antigens during critical developmental stages can impair immune and central nervous system functions, potentially leading to Autism Spectrum Disorder (ASD). Changes in diagnostic criteria, increased awareness, and better identification methods have contributed to the rising prevalence rates of autism. Genetic predisposition, epigenetic mechanisms triggered by environmental factors like endocrine-disrupting chemicals (EDCs), and dietary influences have also been implicated in the development of autism. The complex interplay of genetic, environmental, and epigenetic factors underscores the multifactorial nature of autism etiology, highlighting the need for further research to better understand and address the increasing incidence of ASD.
How dose autism associated with genetic factors?4 answersAutism is associated with genetic factors. Multiple studies have shown that there is a genetic component to autism spectrum disorder (ASD). These studies have identified various candidate genes and genetic variants that are associated with ASD. Some of the genes that have been implicated include adenosine deaminase (ADA), bone marrow stromal cell antigen-1 (CD157/BST1), dopamine receptor D1 (DRD1), met proto-oncogene (MET), methylenetetrahydrofolate reductase (MTHFR), solute carrier family 6 member 4 (SLC6A4), synaptosomal-associated protein, 25kDa (SNAP-25), and vitamin D receptor (VDR). Additionally, rare genetic variants, polygenic risk, and sex differences have also been found to contribute to the genetic etiology of ASD. These findings highlight the importance of genetic factors in the development of ASD and provide insights into potential prevention and prognosis strategies.
What brain changes are associated with autism?5 answersBrain changes associated with autism include dynamic interactions between core-periphery brain regions, altered brain structural changes, abnormal patterns of cerebral lateralization, and convergent alterations in the noncoding transcriptome. These changes are implicated in atypical behavior, cognitive profiles, and clinical symptoms in individuals with autism.These brain changes are observed in regions controlling behavior, cognition, motor functions, social behavior, cognitive and motor activities, sensory modalities, and language processing.The neuropathological mechanisms contributing to these brain changes are not fully understood but may involve genetic factors and atypical early brain growth.The identified alterations in the noncoding transcriptome and transcript splicing suggest manifold genetic alterations contributing to the molecular convergence observed in autism brains.These brain changes reflect the complex genetic heterogeneity underlying autism spectrum disorder.
Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk4 answersWhole-genome deep-learning analysis reveals that noncoding mutations contribute to autism risk. The analysis predicts the regulatory effects and deleterious impact of genetic variants, and identifies higher functional impact noncoding mutations in individuals with autism spectrum disorder (ASD) compared to unaffected siblings. These noncoding mutations disrupt transcriptional and post-transcriptional regulation, and are involved in synaptic transmission and neuronal development. The analysis also highlights a convergent genetic landscape of coding and noncoding de novo mutations in ASD. Furthermore, the sequences carrying prioritized mutations identified in ASD probands possess allele-specific regulatory activity, and there is a link between noncoding mutations and heterogeneity in the IQ of ASD probands. This study demonstrates the role of noncoding mutations in ASD and provides a framework for prioritizing high impact mutations for further study in complex human diseases.
What are the genetic cause of Autism Spectrum Disorder?3 answersAutism Spectrum Disorder (ASD) has a complex genetic component involving both polygenic and monogenic factors. Recent advancements in genomic technology have identified several monogenic causes of ASD. Genetic testing can be offered to individuals with ASD when a monogenic etiology is suspected. Common genetic variants, as well as rare potentially damaging mutations, have been implicated in ASD. Rare mutations in highly constrained genes account for individual risk, while common inherited variants contribute to the overall population risk. Some of the known genes associated with ASD include Neurexin 1, Neuroligin 3 and 4, and SHANK3, which are involved in synaptic cell adhesion and glutaminergic synapse abnormalities. Chromosomal microarrays have been used to identify genetic causes in 20-25% of individuals with ASD, while the causes remain unknown in the remaining cases. The identification of a genetic cause in ASD is often related to factors such as global development delay/intellectual disability and relevant family history.
What is correlation between autism and genetics?4 answersAutism has a significant genetic component, with twin and family studies showing a high heritability for the disorder. It is now known that there is a strong genetic influence on the development of autism, and it is genetically heterogeneous, meaning it can occur as a component of a genetic syndrome or as an isolated trait. Multiple lines of evidence, including genetic microarrays and next-generation DNA sequencing, have identified genes and copy number variants associated with autism. Studies have also found altered glial, synaptic, and chromatin pathways contributing to autism risk. Additionally, research has shown that there is a genetic link to autism, with some genes associated with autism risk being clustered in a region on chromosome 11. Inbreeding in ancient generations may have also contributed to the genetic abnormalities associated with autism.