Autism

Definition:

Autism, also known as autistic spectrum disorder (ASD), is a common childhood onset neurodevelopmental disorder, characterised by severe deficits in socialisation, communication, and repetitive or unusual behaviour. It is highly genetic and multifactorial, with many risk factors acting together. Several autism loci and genes have been identified. Large-effect rare mutations and small-effect common variants (Autism susceptibility, AUTS) contribute to risk.

References:

[1]. A Chaudhry, et al. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clin Genet. 2015 Sep;88(3):224-33. [Content Brief]

[2]. Eric M Morrow, et al. Identifying autism loci and genes by tracing recent shared ancestry. Science. 2008 Jul 11;321(5886):218-23. [Content Brief]

[3]. M Neves-Pereira, et al. Deregulation of EIF4E: a novel mechanism for autism. J Med Genet. 2009 Nov;46(11):759-65. [Content Brief]

[4]. Meng-Chuan Lai, et al. Autism. Lancet. 2014 Mar 8;383(9920):896-910. [Content Brief]

[5]. Moe Nakanishi, et al. Functional significance of rare neuroligin 1 variants found in autism. PLoS Genet. 2017 Aug 25;13(8):e1006940. [Content Brief]

[6]. Patrícia B S Celestino-Soper, et al. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A. 2012 May 22;109(21):7974-81. [Content Brief]

[7]. Raphael Bernier, et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 2014 Jul 17;158(2):263-276. [Content Brief]

[8]. Rebecca Muhle, et al. The genetics of autism. Pediatrics. 2004 May;113(5):e472-86. [Content Brief]

[9]. S M Klauck, et al. Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism. Mol Psychiatry. 2006 Dec;11(12):1073-84. [Content Brief]

[10]. Simone Berkel, et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet. 2010 Jun;42(6):489-91. [Content Brief]

[11]. Susan E Levy, et al. Autism. Lancet. 2009 Nov 7;374(9701):1627-38. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.