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Asperger syndrome, susceptibility to, 1(ASPG1)

MedGen UID:
325218
Concept ID:
C1837646
Disease or Syndrome
Synonyms: Asperger syndrome 1; ASPG1
 
Monarch Initiative: MONDO:0012082
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. [from OMIM]

Clinical features

From HPO
Autism
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; 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; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (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). A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5. Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.
Motor stereotypies
MedGen UID:
21318
Concept ID:
C0038271
Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
Impaired ability to form peer relationships
MedGen UID:
325221
Concept ID:
C1837649
Mental or Behavioral Dysfunction
Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, undersand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group.
Lack of spontaneous play
MedGen UID:
373380
Concept ID:
C1837650
Finding
Inflexible adherence to routines
MedGen UID:
324848
Concept ID:
C1837653
Finding
A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered.
Abnormal nonverbal communicative behavior
MedGen UID:
867425
Concept ID:
C4021798
Mental or Behavioral Dysfunction
Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication.
Restrictive behavior
MedGen UID:
892681
Concept ID:
C4021799
Mental or Behavioral Dysfunction
Behavior characterized by an abnormal limitation to a few interests and activities.
Autism with high cognitive abilities
MedGen UID:
871340
Concept ID:
C4025832
Mental or Behavioral Dysfunction

Recent clinical studies

Etiology

Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, Guerrot AM, Richard AC, Drouin-Garraud V, Brehin AC, Soleimani M, Taton R, Rotharmel M, Rosier A, Chambon P, Le Meur N, Joly-Helas G, Saugier-Veber P, Boland A, Deleuze JF, Olaso R, Frebourg T, Nicolas G, Guillin O, Campion D
Transl Psychiatry 2020 Feb 24;10(1):77. doi: 10.1038/s41398-020-0760-7. PMID: 32094338Free PMC Article
Geier DA, Kern JK, Geier MR
Dev Neurobiol 2019 Sep;79(9-10):857-867. Epub 2019 Dec 4 doi: 10.1002/dneu.22726. PMID: 31742925
Cruz ACP, Ferrasa A, Muotri AR, Herai RH
Mitochondrion 2019 May;46:345-360. Epub 2018 Sep 13 doi: 10.1016/j.mito.2018.09.005. PMID: 30218715
Inglese MD, Elder JH
J Pediatr Nurs 2009 Feb;24(1):41-8. Epub 2008 Jun 13 doi: 10.1016/j.pedn.2007.12.006. PMID: 19159834
Santangelo SL, Tsatsanis K
Am J Pharmacogenomics 2005;5(2):71-92. doi: 10.2165/00129785-200505020-00001. PMID: 15813671

Diagnosis

Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, Guerrot AM, Richard AC, Drouin-Garraud V, Brehin AC, Soleimani M, Taton R, Rotharmel M, Rosier A, Chambon P, Le Meur N, Joly-Helas G, Saugier-Veber P, Boland A, Deleuze JF, Olaso R, Frebourg T, Nicolas G, Guillin O, Campion D
Transl Psychiatry 2020 Feb 24;10(1):77. doi: 10.1038/s41398-020-0760-7. PMID: 32094338Free PMC Article
Geier DA, Kern JK, Geier MR
Dev Neurobiol 2019 Sep;79(9-10):857-867. Epub 2019 Dec 4 doi: 10.1002/dneu.22726. PMID: 31742925
Akouchekian M, Hakim Shooshtari M, Heidary H, Zahedi Abghari F, Moeinian P
Int J Neurosci 2019 Jan;129(1):10-15. Epub 2018 Nov 5 doi: 10.1080/00207454.2018.1503177. PMID: 30074416
Curie A, Lesca G, Bussy G, Manificat S, Arnaud V, Gonzalez S, Revol O, Calender A, Gérard D, des Portes V
Psychiatr Genet 2017 Jun;27(3):105-109. doi: 10.1097/YPG.0000000000000165. PMID: 28230711
Ropar D, Mitchell P
J Child Psychol Psychiatry 1999 Nov;40(8):1283-93. PMID: 10604406

Therapy

Inglese MD, Elder JH
J Pediatr Nurs 2009 Feb;24(1):41-8. Epub 2008 Jun 13 doi: 10.1016/j.pedn.2007.12.006. PMID: 19159834

Prognosis

Jokiranta-Olkoniemi E, Cheslack-Postava K, Sucksdorff D, Suominen A, Gyllenberg D, Chudal R, Leivonen S, Gissler M, Brown AS, Sourander A
JAMA Psychiatry 2016 Jun 1;73(6):622-9. doi: 10.1001/jamapsychiatry.2016.0495. PMID: 27145529
Ey E, Leblond CS, Bourgeron T
Autism Res 2011 Feb;4(1):5-16. Epub 2011 Jan 5 doi: 10.1002/aur.175. PMID: 21328568
Lauritsen MB, Pedersen CB, Mortensen PB
J Child Psychol Psychiatry 2005 Sep;46(9):963-71. doi: 10.1111/j.1469-7610.2004.00391.x. PMID: 16108999

Clinical prediction guides

Akouchekian M, Hakim Shooshtari M, Heidary H, Zahedi Abghari F, Moeinian P
Int J Neurosci 2019 Jan;129(1):10-15. Epub 2018 Nov 5 doi: 10.1080/00207454.2018.1503177. PMID: 30074416
Curie A, Lesca G, Bussy G, Manificat S, Arnaud V, Gonzalez S, Revol O, Calender A, Gérard D, des Portes V
Psychiatr Genet 2017 Jun;27(3):105-109. doi: 10.1097/YPG.0000000000000165. PMID: 28230711
Jokiranta-Olkoniemi E, Cheslack-Postava K, Sucksdorff D, Suominen A, Gyllenberg D, Chudal R, Leivonen S, Gissler M, Brown AS, Sourander A
JAMA Psychiatry 2016 Jun 1;73(6):622-9. doi: 10.1001/jamapsychiatry.2016.0495. PMID: 27145529
Ey E, Leblond CS, Bourgeron T
Autism Res 2011 Feb;4(1):5-16. Epub 2011 Jan 5 doi: 10.1002/aur.175. PMID: 21328568
Hennah W, Thomson P, McQuillin A, Bass N, Loukola A, Anjorin A, Blackwood D, Curtis D, Deary IJ, Harris SE, Isometsä ET, Lawrence J, Lönnqvist J, Muir W, Palotie A, Partonen T, Paunio T, Pylkkö E, Robinson M, Soronen P, Suominen K, Suvisaari J, Thirumalai S, St Clair D, Gurling H, Peltonen L, Porteous D
Mol Psychiatry 2009 Sep;14(9):865-73. Epub 2008 Mar 4 doi: 10.1038/mp.2008.22. PMID: 18317464

Recent systematic reviews

Cruz ACP, Ferrasa A, Muotri AR, Herai RH
Mitochondrion 2019 May;46:345-360. Epub 2018 Sep 13 doi: 10.1016/j.mito.2018.09.005. PMID: 30218715

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