The Genetics of Autism Spectrum Disorders
TLDR
Three approaches to identifying genetic factors that contribute to the pathogenesis of ASDs are reviewed: common variants and genome-wide association studies (GWAS); 2) rare variants and copy number variation (CNV) studies, and 3) familial forms of autism and the role of next-generation sequencing (NGS) methods.Abstract:
Autism is a neurodevelopmental disorder of complex etiology and is amongst the most heritable of neuropsychiatric disorders while sharing genetic liability with other neurodevelopmental disorders such as intellectual disability (ID). Autism spectrum disorders (ASDs) are defined more broadly and include autism, Asperger syndrome, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified. Under the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition Revised (DSM-IVTR), these disorders are grouped together with Rett syndrome (“Rett’s disorder”) as pervasive developmental disorders. However, Rett syndrome has a reportedly distinct pathophysiology, clinical course, and diagnostic strategy (Levy & Schultz, 2009) and will likely be removed in the impending publication of DSM-V (APA, 2010). The new diagnostic manual will formally adopt the single diagnostic category “ASDs”, which is used here. Reported prevalence rates for ASDs range from 20 (Newschaffer et al. 2007) to 116 (Baird et al., 2006) per 10,000 children, and vary in accordance with diagnostic, sampling, and screening criteria. The Centers for Disease Control and Prevention (CDC) suggest that in the United States, the prevalence of ASDs is 1 in 110 (1/70 in boys and 1/315 in girls) (ADDM, 2009). The three primary characteristics of ASDs are communication impairments, social impairments, and repetitive/stereotyped behaviors. The DSM-IVTR, ICD-10, and many other diagnostic instruments require impairment in each of these domains for a diagnosis of autistic disorder. Within the last decade, a number of major technological developments have transformed our understanding of the genetic causes of autism, and the field continues to evolve rapidly. In this chapter, we will review three approaches to identifying genetic factors that contribute to the pathogenesis of ASDs: 1) common variants and genome-wide association studies (GWAS); 2) rare variants and copy number variation (CNV) studies, and 3) familial forms of autism and the role of next-generation sequencing (NGS) methods. Data from all three approaches underscores the conclusion that autism is a highly complex and heterogeneous disorder, involving a multifactorial etiology. Moreover, it is becoming increasingly apparent that autism is not a unitary disorder, and that the spectrum may consist of any number of different autisms that share similar symptoms or phenotypes. This conclusion has important implications for evaluation and treatment, which are discussed in the conclusion.read more
Citations
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Oxytocin protective effects on zebrafish larvae models of autism-like spectrum disorder
Hooman Rahmati-Holasoo,Armin Salek Maghsoudi,Milad Akbarzade,Mahdi Gholami,Amir Shadboorestan,Faezeh Vakhshiteh,Maryam Armandeh,Shokoufeh Hassani +7 more
TL;DR: In this article , the results showed that the most significant effect of oxytocin was at the concentration of 50 μM and the time point of 48 hr, while increased expression of shank3a, shank-3b, and oxy-tocin receptor genes was also significant at this level.
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The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome
TL;DR: The mtDNA landscape extracted from whole-genome sequencing data from 498 individuals with PTEN hamartoma tumor syndrome, including 164 with ASD/DD (PHTS-onlyASD/DD), 184 with cancer, 132 with neither ASD or cancer, and 18 with both ASD and cancer as mentioned in this paper .
Attitudes of Nigerian Mothers Toward Children With Autism Spectrum Disorder
TL;DR: Chukwueloka et al. as mentioned in this paper explored the attitudes of Nigerian mothers toward their children with autism and their lived experiences with a child with autism through qualitative data analysis and found that ASD is a developmental disability and there was positive relationship between children with ASD and their families.
Journal ArticleDOI
Familial Autism Genes
TL;DR: In this review, familial autism genes will be discussed and the effects of heredity on autism will be discussing.
Epigenesis, synapse selection, cultural imprints, and brain development: from molecules to cognition
TL;DR: HAL as mentioned in this paper is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not, which may come from teaching and research institutions in France or abroad, or from public or private research centers.
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TL;DR: The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.