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Asperger syndrome 2(ASPG2)

MedGen UID:
332517
Concept ID:
C1837697
Disease or Syndrome
Synonyms: ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2; ASPG2
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Sources: HPO, Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Sporadic (HPO, OMIM)
 
Cytogenetic location: 17p13
OMIM®: 608631

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. For a discussion of genetic heterogeneity of Asperger syndrome, see ASPG1 (608638). [from OMIM]

Clinical features

Autistic disorder of childhood onset
MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
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 (Bailey et al., 1996; 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 (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). 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 mutation in the TMLHE gene (300777). Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.
Stereotypy
MedGen UID:
21320
Concept ID:
C0038273
Mental or Behavioral Dysfunction
Impaired ability to form peer relationships
MedGen UID:
325221
Concept ID:
C1837649
Mental or Behavioral Dysfunction
Lack of spontaneous play
MedGen UID:
373380
Concept ID:
C1837650
Finding
Inflexible adherence to routines or rituals
MedGen UID:
324848
Concept ID:
C1837653
Finding
Impaired use of nonverbal behaviors
MedGen UID:
867425
Concept ID:
C4021798
Mental or Behavioral Dysfunction
Restrictive behavior
MedGen UID:
892681
Concept ID:
C4021799
Mental or Behavioral Dysfunction

Recent clinical studies

Etiology

Montgomery CB, Allison C, Lai MC, Cassidy S, Langdon PE, Baron-Cohen S
J Autism Dev Disord 2016 Jun;46(6):1931-40. doi: 10.1007/s10803-016-2698-4. PMID: 26883645Free PMC Article
Shumer DE, Reisner SL, Edwards-Leeper L, Tishelman A
LGBT Health 2016 Oct;3(5):387-90. Epub 2015 Dec 1 doi: 10.1089/lgbt.2015.0070. PMID: 26651183Free PMC Article
Lugnegård T, Hallerbäck MU, Gillberg C
Nord J Psychiatry 2015 May;69(4):268-74. Epub 2014 Nov 12 doi: 10.3109/08039488.2014.972452. PMID: 25389915
Ramos M, Boada L, Moreno C, Llorente C, Romo J, Parellada M
Drug Alcohol Depend 2013 Dec 1;133(2):535-40. Epub 2013 Aug 17 doi: 10.1016/j.drugalcdep.2013.07.022. PMID: 23962420
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

Diagnosis

Shumer DE, Reisner SL, Edwards-Leeper L, Tishelman A
LGBT Health 2016 Oct;3(5):387-90. Epub 2015 Dec 1 doi: 10.1089/lgbt.2015.0070. PMID: 26651183Free PMC Article
Davidson C, Greenwood N, Stansfield A, Wright S
Early Interv Psychiatry 2014 May;8(2):138-46. Epub 2013 Mar 8 doi: 10.1111/eip.12039. PMID: 23472601
Tanidir C, Mukaddes NM
Autism 2014 Feb;18(2):178-84. Epub 2012 Sep 17 doi: 10.1177/1362361312457716. PMID: 22987894
Ramos M, Boada L, Moreno C, Llorente C, Romo J, Parellada M
Drug Alcohol Depend 2013 Dec 1;133(2):535-40. Epub 2013 Aug 17 doi: 10.1016/j.drugalcdep.2013.07.022. PMID: 23962420
Roy M, Ohlmeier MD, Osterhagen L, Prox-Vagedes V, Dillo W
Psychiatr Danub 2013 Jun;25(2):133-41. PMID: 23793277

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. PMID: 24067301Free PMC Article
J Pract Nurs 2009 Summer;59(2):25. PMID: 19719004
Zalla T, Sav AM, Stopin A, Ahade S, Leboyer M
J Autism Dev Disord 2009 Feb;39(2):373-82. Epub 2008 Aug 23 doi: 10.1007/s10803-008-0634-y. PMID: 18726150
Warwick TC, Griffith J, Reyes B, Legesse B, Evans M
Epilepsy Behav 2007 Mar;10(2):344-7. Epub 2007 Feb 14 doi: 10.1016/j.yebeh.2007.01.001. PMID: 17300990
Ashwin C, Baron-Cohen S, Wheelwright S, O'Riordan M, Bullmore ET
Neuropsychologia 2007 Jan 7;45(1):2-14. Epub 2006 Jun 30 doi: 10.1016/j.neuropsychologia.2006.04.014. PMID: 16806312

Prognosis

Hagberg B, Billstedt E, Nydén A, Gillberg C
Eur Child Adolesc Psychiatry 2015 Aug;24(8):969-77. Epub 2014 Nov 16 doi: 10.1007/s00787-014-0646-4. PMID: 25399237
Hagberg BS, Nydén A, Cederlund M, Gillberg C
Psychiatry Res 2013 Dec 15;210(2):553-8. Epub 2013 Jul 18 doi: 10.1016/j.psychres.2013.06.006. PMID: 23871410
Shamay-Tsoory SG, Gev E, Aharon-Peretz J, Adler N
Cogn Behav Neurol 2010 Jun;23(2):74-84. doi: 10.1097/WNN.0b013e3181d748ec. PMID: 20535055
Ryburn B, Anderson V, Wales R
J Neuropsychol 2009 Mar;3(Pt 1):107-23. doi: 10.1348/174866407X272448. PMID: 19338720
Baron-Cohen S, Scott F, Wheelwright S, Johnson M, Bisarya D, Desai A, Ahluwalia J
J Child Neurol 2006 Apr;21(4):351-6. doi: 10.1177/08830738060210040901. PMID: 16900937

Clinical prediction guides

Montgomery CB, Allison C, Lai MC, Cassidy S, Langdon PE, Baron-Cohen S
J Autism Dev Disord 2016 Jun;46(6):1931-40. doi: 10.1007/s10803-016-2698-4. PMID: 26883645Free PMC Article
Lugnegård T, Hallerbäck MU, Gillberg C
Nord J Psychiatry 2015 May;69(4):268-74. Epub 2014 Nov 12 doi: 10.3109/08039488.2014.972452. PMID: 25389915
Ramos M, Boada L, Moreno C, Llorente C, Romo J, Parellada M
Drug Alcohol Depend 2013 Dec 1;133(2):535-40. Epub 2013 Aug 17 doi: 10.1016/j.drugalcdep.2013.07.022. PMID: 23962420
Roy M, Ohlmeier MD, Osterhagen L, Prox-Vagedes V, Dillo W
Psychiatr Danub 2013 Jun;25(2):133-41. PMID: 23793277
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

Hourston S, Atchley R
J Altern Complement Med 2017 May;23(5):331-339. Epub 2017 Feb 22 doi: 10.1089/acm.2016.0336. PMID: 28437148Free PMC Article
Loades ME
J Child Adolesc Psychiatr Nurs 2015 May;28(2):73-83. Epub 2015 Apr 11 doi: 10.1111/jcap.12108. PMID: 25865961
Vannucchi G, Masi G, Toni C, Dell'Osso L, Erfurth A, Perugi G
J Affect Disord 2014 Oct;168:151-60. Epub 2014 Jul 8 doi: 10.1016/j.jad.2014.06.042. PMID: 25046741
Rao PA, Beidel DC, Murray MJ
J Autism Dev Disord 2008 Feb;38(2):353-61. Epub 2007 Jul 20 doi: 10.1007/s10803-007-0402-4. PMID: 17641962
Jordan R
Pediatr Rehabil 2005 Apr-Jun;8(2):104-12. PMID: 16089250

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