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Autism 17(AUTS17)

MedGen UID:
462043
Concept ID:
C3150693
Finding
Synonyms: AUTISM, SUSCEPTIBILITY TO, 17; AUTS17
 
Gene (location): SHANK2 (11q13.3-13.4)
OMIM®: 613436

Definition

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). For a discussion of genetic heterogeneity of autism, see 209850. [from OMIM]

Recent clinical studies

Etiology

Nikvarz N, Alaghband-Rad J, Tehrani-Doost M, Alimadadi A, Ghaeli P
Pharmacopsychiatry 2017 Jan;50(1):19-25. Epub 2016 Jun 14 doi: 10.1055/s-0042-108449. PMID: 27299475
Chandler F, Dissanayake C
Autism 2014 Jul;18(5):485-92. Epub 2013 Sep 26 doi: 10.1177/1362361313486205. PMID: 24072664
Mankoski R, Stockton G, Manos G, Marler S, McQuade R, Forbes RA, Marcus R
J Child Adolesc Psychopharmacol 2013 Oct;23(8):572-6. doi: 10.1089/cap.2012.0075. PMID: 24138011Free PMC Article
Joshi G, Biederman J, Wozniak J, Goldin RL, Crowley D, Furtak S, Lukas SE, Gönenç A
Eur Arch Psychiatry Clin Neurosci 2013 Aug;263(5):379-84. Epub 2012 Sep 18 doi: 10.1007/s00406-012-0369-9. PMID: 22986449
Marcus RN, Owen R, Manos G, Mankoski R, Kamen L, McQuade RD, Carson WH, Corey-Lisle PK, Aman MG
J Child Adolesc Psychopharmacol 2011 Jun;21(3):229-36. doi: 10.1089/cap.2009.0121. PMID: 21663425

Diagnosis

Findling RL, Mankoski R, Timko K, Lears K, McCartney T, McQuade RD, Eudicone JM, Amatniek J, Marcus RN, Sheehan JJ
J Clin Psychiatry 2014 Jan;75(1):22-30. doi: 10.4088/JCP.13m8500. PMID: 24502859
Kent JM, Kushner S, Ning X, Karcher K, Ness S, Aman M, Singh J, Hough D
J Autism Dev Disord 2013 Aug;43(8):1773-83. doi: 10.1007/s10803-012-1723-5. PMID: 23212807
Mordre M, Groholt B, Knudsen AK, Sponheim E, Mykletun A, Myhre AM
J Autism Dev Disord 2012 Jun;42(6):920-8. doi: 10.1007/s10803-011-1319-5. PMID: 21713590Free PMC Article
Marcus RN, Owen R, Manos G, Mankoski R, Kamen L, McQuade RD, Carson WH, Findling RL
J Clin Psychiatry 2011 Sep;72(9):1270-6. Epub 2011 Jul 26 doi: 10.4088/JCP.09m05933. PMID: 21813076
Owen R, Sikich L, Marcus RN, Corey-Lisle P, Manos G, McQuade RD, Carson WH, Findling RL
Pediatrics 2009 Dec;124(6):1533-40. doi: 10.1542/peds.2008-3782. PMID: 19948625

Therapy

Nikvarz N, Alaghband-Rad J, Tehrani-Doost M, Alimadadi A, Ghaeli P
Pharmacopsychiatry 2017 Jan;50(1):19-25. Epub 2016 Jun 14 doi: 10.1055/s-0042-108449. PMID: 27299475
Loebel A, Brams M, Goldman RS, Silva R, Hernandez D, Deng L, Mankoski R, Findling RL
J Autism Dev Disord 2016 Apr;46(4):1153-63. doi: 10.1007/s10803-015-2628-x. PMID: 26659550Free PMC Article
Findling RL, Mankoski R, Timko K, Lears K, McCartney T, McQuade RD, Eudicone JM, Amatniek J, Marcus RN, Sheehan JJ
J Clin Psychiatry 2014 Jan;75(1):22-30. doi: 10.4088/JCP.13m8500. PMID: 24502859
Mankoski R, Stockton G, Manos G, Marler S, McQuade R, Forbes RA, Marcus R
J Child Adolesc Psychopharmacol 2013 Oct;23(8):572-6. doi: 10.1089/cap.2012.0075. PMID: 24138011Free PMC Article
Marcus RN, Owen R, Manos G, Mankoski R, Kamen L, McQuade RD, Carson WH, Corey-Lisle PK, Aman MG
J Child Adolesc Psychopharmacol 2011 Jun;21(3):229-36. doi: 10.1089/cap.2009.0121. PMID: 21663425

Prognosis

Nikvarz N, Alaghband-Rad J, Tehrani-Doost M, Alimadadi A, Ghaeli P
Pharmacopsychiatry 2017 Jan;50(1):19-25. Epub 2016 Jun 14 doi: 10.1055/s-0042-108449. PMID: 27299475
Mouti A, Reddihough D, Marraffa C, Hazell P, Wray J, Lee K, Kohn M
Trials 2014 Jun 16;15:230. doi: 10.1186/1745-6215-15-230. PMID: 24934401Free PMC Article
Mankoski R, Stockton G, Manos G, Marler S, McQuade R, Forbes RA, Marcus R
J Child Adolesc Psychopharmacol 2013 Oct;23(8):572-6. doi: 10.1089/cap.2012.0075. PMID: 24138011Free PMC Article
Mordre M, Groholt B, Knudsen AK, Sponheim E, Mykletun A, Myhre AM
J Autism Dev Disord 2012 Jun;42(6):920-8. doi: 10.1007/s10803-011-1319-5. PMID: 21713590Free PMC Article
Marcus RN, Owen R, Manos G, Mankoski R, Kamen L, McQuade RD, Carson WH, Corey-Lisle PK, Aman MG
J Child Adolesc Psychopharmacol 2011 Jun;21(3):229-36. doi: 10.1089/cap.2009.0121. PMID: 21663425

Clinical prediction guides

Nikvarz N, Alaghband-Rad J, Tehrani-Doost M, Alimadadi A, Ghaeli P
Pharmacopsychiatry 2017 Jan;50(1):19-25. Epub 2016 Jun 14 doi: 10.1055/s-0042-108449. PMID: 27299475
Loebel A, Brams M, Goldman RS, Silva R, Hernandez D, Deng L, Mankoski R, Findling RL
J Autism Dev Disord 2016 Apr;46(4):1153-63. doi: 10.1007/s10803-015-2628-x. PMID: 26659550Free PMC Article
Findling RL, Mankoski R, Timko K, Lears K, McCartney T, McQuade RD, Eudicone JM, Amatniek J, Marcus RN, Sheehan JJ
J Clin Psychiatry 2014 Jan;75(1):22-30. doi: 10.4088/JCP.13m8500. PMID: 24502859
Mankoski R, Stockton G, Manos G, Marler S, McQuade R, Forbes RA, Marcus R
J Child Adolesc Psychopharmacol 2013 Oct;23(8):572-6. doi: 10.1089/cap.2012.0075. PMID: 24138011Free PMC Article
Marcus RN, Owen R, Manos G, Mankoski R, Kamen L, McQuade RD, Carson WH, Corey-Lisle PK, Aman MG
J Child Adolesc Psychopharmacol 2011 Jun;21(3):229-36. doi: 10.1089/cap.2009.0121. PMID: 21663425

Recent systematic reviews

Wang C, Geng H, Liu W, Zhang G
Medicine (Baltimore) 2017 May;96(18):e6696. doi: 10.1097/MD.0000000000006696. PMID: 28471964Free PMC Article
Flores-Pajot MC, Ofner M, Do MT, Lavigne E, Villeneuve PJ
Environ Res 2016 Nov;151:763-776. Epub 2016 Sep 5 doi: 10.1016/j.envres.2016.07.030. PMID: 27609410
van Heijst BF, Geurts HM
Autism 2015 Feb;19(2):158-67. Epub 2014 Jan 17 doi: 10.1177/1362361313517053. PMID: 24443331
Yoshimasu K, Kiyohara C, Takemura S, Nakai K
Neurotoxicology 2014 Sep;44:121-31. Epub 2014 Jun 19 doi: 10.1016/j.neuro.2014.06.007. PMID: 24952233
Ghanizadeh A
J Atten Disord 2013 Nov;17(8):635-40. Epub 2012 Apr 27 doi: 10.1177/1087054712443154. PMID: 22544388

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