Autistic disorder of childhood onset

Common Name(s)

Autistic disorder of childhood onset

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior ({7:Bailey et al., 1996}; {71:Risch et al., 1999}). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent ({37:Jones et al., 2008}). Genetic studies in autism often include family members with these less stringent diagnoses ({79:Schellenberg et al., 2006}). {49:Levy et al. (2009)} provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 ({608049}), which maps to chromosome 13q14; AUTS4 ({608636}), which maps to chromosome 15q11; AUTS5 ({606053}), which maps to chromosome 2q; AUTS6 ({609378}), which maps to chromosome 17q11; AUTS7 ({610676}), which maps to chromosome 17q21; AUTS8 ({607373}), which maps to chromosome 3q25-q27; AUTS9 ({611015}), which maps to chromosome 7q31; AUTS10 ({611016}), which maps to chromosome 7q36; AUTS11 ({610836}), which maps to chromosome 1q41; AUTS12 ({610838}), which maps to chromosome 21p13-q11; AUTS13 ({610908}), which maps to chromosome 12q14; AUTS14A ({611913}), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B ({614671}), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 ({612100}), associated with mutation in the CNTNAP2 gene ({604569}) on chromosome 7q35-q36; AUTS16 ({613410}), associated with mutation in the SLC9A9 gene ({608396}) on chromosome 3q24; AUTS17 ({613436}), associated with mutation in the SHANK2 gene ({603290}) on chromosome 11q13; and AUTS18 ({615032}), associated with mutation in the CHD8 gene ({610528}). (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; {607270}) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 ({300425}), associated with mutations in the NLGN3 gene ({300336}); AUTSX2 ({300495}), associated with mutations in NLGN4 ({300427}); AUTSX3 ({300496}), associated with mutations in MECP2 ({300005}); AUTSX4 ({300830}), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene ({300828}); AUTSX5 ({300847}), associated with mutations in the RPL10 gene ({312173}); and AUTSX6 ({300872}), associated with an exon 2 deletion in the TMLHE gene ({300777}). {21:Folstein and Rosen-Sheidley (2001)} reviewed the genetics of autism.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autistic disorder of childhood onset" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autistic disorder of childhood onset" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Autistic disorder of childhood onset" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Autistic disorder of childhood onset" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Shared Decision Making to Improve Care and Outcomes for Children With Autism
 

Status: Not yet recruiting

Condition Summary: Autistic Disorder; Pervasive Developmental Disorder; Child Development Disorders, Pervasive; Asperger Syndrome; Autism Spectrum Disorder; Autism

 

Last Updated: 9 Aug 2013

Go to URL
Intensive Intervention for Toddlers With Autism (EARLY STEPS)
 

Status: Recruiting

Condition Summary: Autism; Autism Spectrum Disorder

 

Last Updated: 12 Jun 2008

Go to URL
Mitochondrial Dysfunction in Autism Spectrum Disorder
 

Status: Recruiting

Condition Summary: Autism Spectrum Disorder; Autism; Mitochondrial Disease; Developmental Delay

 

Last Updated: 27 Jun 2014

Go to URL