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Asperger syndrome 1(ASPG1)

MedGen UID:
325218
Concept ID:
C1837646
Disease or Syndrome
Synonyms: ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1; ASPG1
Modes of inheritance:
Sporadic
MedGen UID:
64410
Concept ID:
C0205422
Temporal Concept
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
A phenotypic outcome (physical characteristic or disease predisposition) that is determined by more than one gene. Polygenic refers to those determined by many genes, while oligogenic refers to those determined by a few genes.
 
Cytogenetic location: 3q25-q27
OMIM®: 608638

Definition

Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder. Genetic Heterogeneity of Susceptibility to Asperger Syndrome ASPG1 maps to chromosome 3q. Other autosomal loci include ASPG2 (608631) on chromosome 17p, ASPG3 (608781) on 1q21-q22, and ASPG4 (609954) on 3p24-p21. Two X-linked forms, ASPGX1 (300494) and ASPGX2 (300497), are associated with mutation in the NLGN3 gene (300336) and the NLGN4 gene (300427), respectively. [from OMIM]

Additional description

From GHR
Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized by impaired communication and social interaction. Asperger syndrome is on the mild, or "high-functioning," end of the autism spectrum. Many affected individuals learn to compensate for their differences and live independent and successful lives. However, the behavioral challenges associated with this condition often lead to social isolation and difficulties at school, at work, and in personal relationships. People with Asperger syndrome have average or above-average intelligence. In contrast to people with other disorders on the autism spectrum, they are not delayed in their language development. However, their ability to carry on a conversation is often impaired by a tendency to take idioms or humorous statements literally and an inability to read non-verbal cues such as body language to understand what others are feeling. They may speak in a monotone voice, have unusual mannerisms, or choose unusual topics of conversation. Individuals with Asperger syndrome tend to develop an intense interest in a particular subject. This interest may be a traditional hobby or academic discipline, and many people with Asperger syndrome develop advanced abilities in fields such as music, science, mathematics, or computer programming. However, they might also focus on an unusual interest such as bus routes or a particular type of household appliance. Often they are able to remember enormous amounts of detail on their subject of interest. They may want to share this large amount of information with others and may resist diversion to other topics. People with Asperger syndrome tend to be rigid about their established routines and may strongly resist disruptions such as changes in schedule. They may also have difficulty tolerating sensory stimuli such as noise or lights. Other features of Asperger syndrome may include mild impairment of motor skills. For example, basic skills such as crawling and walking may be somewhat delayed. Affected individuals may also have coordination problems that impair their ability to engage in such activities as playing ball games or riding a bicycle. This physical clumsiness may lead to further social isolation of children with Asperger syndrome. Signs and symptoms of Asperger syndrome may become apparent by the age of 3, when most children begin to develop social skills such as learning to play with others. Some affected children may come to medical attention due to delayed motor skills. In most cases, children with Asperger syndrome are diagnosed during the elementary school years, as their social behavior continues to diverge from the typical developmental path. Difficulties with social skills generally continue into adulthood, and affected individuals are at increased risk of other behavioral or psychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), depression, anxiety, and obsessive-compulsive disorder.  http://ghr.nlm.nih.gov/condition/asperger-syndrome

Clinical features

Impaired ability to form peer relationships
MedGen UID:
325221
Concept ID:
C1837649
Finding
Lack of spontaneous play
MedGen UID:
373380
Concept ID:
C1837650
Finding
Inflexible adherence to routines or rituals
MedGen UID:
324848
Concept ID:
C1837653
Finding
Restrictive behavior
MedGen UID:
393364
Concept ID:
C2675334
Finding
Stereotypic behavior
MedGen UID:
427832
Concept ID:
CN000689
Finding
A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps.
Autism with high cognitive abilities
MedGen UID:
427833
Concept ID:
CN000709
Finding
Impaired use of nonverbal behaviors
MedGen UID:
504588
Concept ID:
CN000712
Finding
Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures.

Recent clinical studies

Etiology

Bebko JM, Schroeder JH, Weiss JA
Autism Res 2014 Feb;7(1):50-9. Epub 2013 Oct 17 doi: 10.1002/aur.1343. [Epub ahead of print] PMID: 24136870
Domes G, Kumbier E, Heinrichs M, Herpertz SC
Neuropsychopharmacology 2014 Feb;39(3):698-706. Epub 2013 Sep 26 doi: 10.1038/npp.2013.254. [Epub ahead of print] PMID: 24067301Free PMC Article
Jänsch C, Hare DJ
J Autism Dev Disord 2014 Jan;44(1):111-9. doi: 10.1007/s10803-013-1855-2. PMID: 23933997
Doi H, Fujisawa TX, Kanai C, Ohta H, Yokoi H, Iwanami A, Kato N, Shinohara K
J Autism Dev Disord 2013 Sep;43(9):2099-113. doi: 10.1007/s10803-013-1760-8. PMID: 23371506
Murphy CM, Deeley Q, Daly EM, Ecker C, O'Brien FM, Hallahan B, Loth E, Toal F, Reed S, Hales S, Robertson DM, Craig MC, Mullins D, Barker GJ, Lavender T, Johnston P, Murphy KC, Murphy DG
Autism Res 2012 Feb;5(1):3-12. Epub 2011 Sep 21 doi: 10.1002/aur.227. [Epub ahead of print] PMID: 21948742

Diagnosis

Bebko JM, Schroeder JH, Weiss JA
Autism Res 2014 Feb;7(1):50-9. Epub 2013 Oct 17 doi: 10.1002/aur.1343. [Epub ahead of print] PMID: 24136870
Lehnhardt FG, Gawronski A, Pfeiffer K, Kockler H, Schilbach L, Vogeley K
Dtsch Arztebl Int 2013 Nov 8;110(45):755-63. doi: 10.3238/arztebl.2013.0755. PMID: 24290364Free PMC Article
Fisher WW, Rodriguez NM, Owen TM
J Appl Behav Anal 2013 Spring;46(1):307-11. Epub 2013 Feb 20 doi: 10.1002/jaba.19. [Epub ahead of print] PMID: 24114104
Roy M, Ohlmeier MD, Osterhagen L, Prox-Vagedes V, Dillo W
Psychiatr Danub 2013 Jun;25(2):133-41. PMID: 23793277
Griffith GM, Totsika V, Nash S, Jones RS, Hastings RP
J Intellect Dev Disabil 2012 Sep;37(3):237-47. Epub 2012 Aug 2 doi: 10.3109/13668250.2012.701729. [Epub ahead of print] PMID: 22852754

Therapy

Domes G, Kumbier E, Heinrichs M, Herpertz SC
Neuropsychopharmacology 2014 Feb;39(3):698-706. Epub 2013 Sep 26 doi: 10.1038/npp.2013.254. [Epub ahead of print] PMID: 24067301Free PMC Article
Parkinson J
Australas Psychiatry 2014 Feb;22(1):84-5. Epub 2013 Jul 29 doi: 10.1177/1039856213497814. [Epub ahead of print] PMID: 23897727
Schmidt K, Zimmerman A, Bauman M, Ferrone C, Venter J, Spybrook J, Henry C
J Autism Dev Disord 2013 Apr;43(4):973-7. doi: 10.1007/s10803-012-1620-y. PMID: 22872214
Murphy CM, Deeley Q, Daly EM, Ecker C, O'Brien FM, Hallahan B, Loth E, Toal F, Reed S, Hales S, Robertson DM, Craig MC, Mullins D, Barker GJ, Lavender T, Johnston P, Murphy KC, Murphy DG
Autism Res 2012 Feb;5(1):3-12. Epub 2011 Sep 21 doi: 10.1002/aur.227. [Epub ahead of print] PMID: 21948742
Owens G, Granader Y, Humphrey A, Baron-Cohen S
J Autism Dev Disord 2008 Nov;38(10):1944-57. Epub 2008 Jun 20 doi: 10.1007/s10803-008-0590-6. [Epub ahead of print] PMID: 18566882

Prognosis

Hoffmann W, König U, Heinzel-Gutenbrunner M, Mattejat F, Becker K, Kamp-Becker I
Res Dev Disabil 2013 Jan;34(1):640-9. Epub 2012 Oct 31 doi: 10.1016/j.ridd.2012.09.013. [Epub ahead of print] PMID: 23123877
Radulescu E, Ganeshan B, Minati L, Beacher FD, Gray MA, Chatwin C, Young RC, Harrison NA, Critchley HD
Pharmacogenomics J 2013 Feb;13(1):70-9. Epub 2012 Feb 14 doi: 10.1038/tpj.2012.3. [Epub ahead of print] PMID: 22333911
Merchán-Naranjo J, Mayoral M, Rapado-Castro M, Llorente C, Boada L, Arango C, Parellada M
J Autism Dev Disord 2012 Jan;42(1):116-22. doi: 10.1007/s10803-011-1219-8. PMID: 21455795
Hedley D, Brewer N, Young R
Autism Res 2011 Dec;4(6):449-55. Epub 2011 Aug 24 doi: 10.1002/aur.214. [Epub ahead of print] PMID: 22162360
Adler N, Nadler B, Eviatar Z, Shamay-Tsoory SG
Psychiatry Res 2010 Jun 30;178(1):214-6. Epub 2010 May 8 doi: 10.1016/j.psychres.2009.11.015. [Epub ahead of print] PMID: 20452047

Clinical prediction guides

Tavano A, Pesarin A, Murino V, Cristani M
PLoS One 2014;9(1):e85819. Epub 2014 Jan 29 doi: 10.1371/journal.pone.0085819. PMID: 24489674Free PMC Article
Roy M, Ohlmeier MD, Osterhagen L, Prox-Vagedes V, Dillo W
Psychiatr Danub 2013 Jun;25(2):133-41. PMID: 23793277
Hoffmann W, König U, Heinzel-Gutenbrunner M, Mattejat F, Becker K, Kamp-Becker I
Res Dev Disabil 2013 Jan;34(1):640-9. Epub 2012 Oct 31 doi: 10.1016/j.ridd.2012.09.013. [Epub ahead of print] PMID: 23123877
Radulescu E, Ganeshan B, Minati L, Beacher FD, Gray MA, Chatwin C, Young RC, Harrison NA, Critchley HD
Pharmacogenomics J 2013 Feb;13(1):70-9. Epub 2012 Feb 14 doi: 10.1038/tpj.2012.3. [Epub ahead of print] PMID: 22333911
Mayoral M, Merchán-Naranjo J, Rapado M, Leiva M, Moreno C, Giráldez M, Arango C, Parellada M
Early Interv Psychiatry 2010 Nov;4(4):283-90. doi: 10.1111/j.1751-7893.2010.00197.x. PMID: 20977684

Recent systematic reviews

Retzlaff R, von Sydow K, Beher S, Haun MW, Schweitzer J
Fam Process 2013 Dec;52(4):619-52. Epub 2013 Aug 5 doi: 10.1111/famp.12041. [Epub ahead of print] PMID: 24329407
Aoki Y, Kasai K, Yamasue H
Transl Psychiatry 2012 Jan 17;2:e69. doi: 10.1038/tp.2011.65. PMID: 22832731Free PMC Article
Rossignol DA, Frye RE
Dev Med Child Neurol 2011 Sep;53(9):783-92. Epub 2011 Apr 19 doi: 10.1111/j.1469-8749.2011.03980.x. [Epub ahead of print] PMID: 21518346
Skokauskas N, Gallagher L
Psychopathology 2010;43(1):8-16. Epub 2009 Nov 6 doi: 10.1159/000255958. [Epub ahead of print] PMID: 19893339
Reichow B, Wolery M
J Autism Dev Disord 2009 Jan;39(1):23-41. Epub 2008 Jun 6 doi: 10.1007/s10803-008-0596-0. [Epub ahead of print] PMID: 18535894

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