Asperger syndrome (AS), a behavioral disorder that is related to autism, is associated with abnormal social functioning and repetitive behaviors but not with a decrease in intelligence or linguistic functionality. AS may be present with several comorbid disorders including attention deficit hyperactivity disorder, anxiety, schizophrenia, bipolar disorder, depression, and Tourette syndrome. The standard pharmacotherapies typically administered to other comorbid disorders are also prescribed to AS patients. Although medication therapy may be beneficial in stabilizing AS patients, it does not cure the disorder. Cognitive behavioural therapy (CBT) may be an effective behavioral approach to implement, and it may also reduce the number of pharmacotherapies necessary for AS patients. The pathophysiology of AS remains unclear and the causes of AS are not known. The male-to-female ratio is 8:1 in AS. Genetic factors appear to play a role in AS because of their tendency to run in families and the high concordance in twins. However, a specific gene for AS has not been identified. Recent studies have suggested that the mutations in two X-linked genes, neuroligins NLGN3 and NLGN4 are associated with autism and AS.
Category
Mental and behavioural disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
06 Mental, behavioural or neurodevelopmental disorders
Neurodevelopmental disorders
6A02 Autism spectrum disorder
H01882 Asperger syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06546 IgSF CAM signaling
H01882 Asperger syndrome
See also H01662 Generalized anxiety disorder, H01653 Bipolar disorder, H01649 Schizophrenia, H01646 Major depressive disorder, and H00862 Tourette syndrome.
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.
Category
Mental and behavioural disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
06 Mental, behavioural or neurodevelopmental disorders
Neurodevelopmental disorders
6A02 Autism spectrum disorder
H02111 Autism
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06544 Neuroactive ligand signaling
H02111 Autism
nt06546 IgSF CAM signaling
H02111 Autism
Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA
Title
Identifying autism loci and genes by tracing recent shared ancestry.
Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT
Title
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL
Title
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
