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Autism, susceptibility to, 16(AUTS16)

MedGen UID:
462027
Concept ID:
C3150677
Finding
Synonyms: Autism 16; Autism susceptibility 16; AUTISM WITH OR WITHOUT SEIZURES
 
Gene (location): SLC9A9 (3q24)
 
Monarch Initiative: MONDO:0013258
OMIM®: 613410

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. Impaired intellectual development (IDD) coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which IDD 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 heterogeneity of autism, see 209850. [from OMIM]

Professional guidelines

PubMed

Cheng CM, Chen MH, Tsai SJ, Chang WH, Tsai CF, Lin WC, Bai YM, Su TP, Chen TJ, Li CT
JAMA Psychiatry 2024 Jul 1;81(7):663-672. doi: 10.1001/jamapsychiatry.2024.0378. PMID: 38568605Free PMC Article
Trakadis Y, Accogli A, Qi B, Bloom D, Joober R, Levy E, Tabbane K
Neurogenetics 2021 Oct;22(4):313-322. Epub 2021 Aug 7 doi: 10.1007/s10048-021-00664-3. PMID: 34363551
Shaik Mohammad N, Sai Shruti P, Bharathi V, Krishna Prasad C, Hussain T, Alrokayan SA, Naik U, Radha Rama Devi A
Psychiatr Genet 2016 Dec;26(6):281-286. doi: 10.1097/YPG.0000000000000152. PMID: 27755291

Recent clinical studies

Etiology

Paulsen B, Velasco S, Kedaigle AJ, Pigoni M, Quadrato G, Deo AJ, Adiconis X, Uzquiano A, Sartore R, Yang SM, Simmons SK, Symvoulidis P, Kim K, Tsafou K, Podury A, Abbate C, Tucewicz A, Smith SN, Albanese A, Barrett L, Sanjana NE, Shi X, Chung K, Lage K, Boyden ES, Regev A, Levin JZ, Arlotta P
Nature 2022 Feb;602(7896):268-273. Epub 2022 Feb 2 doi: 10.1038/s41586-021-04358-6. PMID: 35110736Free PMC Article
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF; SPARK Consortium, Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE
Nat Commun 2020 Oct 1;11(1):4932. doi: 10.1038/s41467-020-18723-y. PMID: 33004838Free PMC Article
Taylor MJ, Rosenqvist MA, Larsson H, Gillberg C, D'Onofrio BM, Lichtenstein P, Lundström S
JAMA Psychiatry 2020 Sep 1;77(9):936-943. doi: 10.1001/jamapsychiatry.2020.0680. PMID: 32374377Free PMC Article
Ruzzo EK, Pérez-Cano L, Jung JY, Wang LK, Kashef-Haghighi D, Hartl C, Singh C, Xu J, Hoekstra JN, Leventhal O, Leppä VM, Gandal MJ, Paskov K, Stockham N, Polioudakis D, Lowe JK, Prober DA, Geschwind DH, Wall DP
Cell 2019 Aug 8;178(4):850-866.e26. doi: 10.1016/j.cell.2019.07.015. PMID: 31398340Free PMC Article
Bai D, Yip BHK, Windham GC, Sourander A, Francis R, Yoffe R, Glasson E, Mahjani B, Suominen A, Leonard H, Gissler M, Buxbaum JD, Wong K, Schendel D, Kodesh A, Breshnahan M, Levine SZ, Parner ET, Hansen SN, Hultman C, Reichenberg A, Sandin S
JAMA Psychiatry 2019 Oct 1;76(10):1035-1043. doi: 10.1001/jamapsychiatry.2019.1411. PMID: 31314057Free PMC Article

Diagnosis

Cheng CM, Chen MH, Tsai SJ, Chang WH, Tsai CF, Lin WC, Bai YM, Su TP, Chen TJ, Li CT
JAMA Psychiatry 2024 Jul 1;81(7):663-672. doi: 10.1001/jamapsychiatry.2024.0378. PMID: 38568605Free PMC Article
Taylor MJ, Rosenqvist MA, Larsson H, Gillberg C, D'Onofrio BM, Lichtenstein P, Lundström S
JAMA Psychiatry 2020 Sep 1;77(9):936-943. doi: 10.1001/jamapsychiatry.2020.0680. PMID: 32374377Free PMC Article
Bai D, Yip BHK, Windham GC, Sourander A, Francis R, Yoffe R, Glasson E, Mahjani B, Suominen A, Leonard H, Gissler M, Buxbaum JD, Wong K, Schendel D, Kodesh A, Breshnahan M, Levine SZ, Parner ET, Hansen SN, Hultman C, Reichenberg A, Sandin S
JAMA Psychiatry 2019 Oct 1;76(10):1035-1043. doi: 10.1001/jamapsychiatry.2019.1411. PMID: 31314057Free PMC Article
Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium
Mol Autism 2017;8:21. Epub 2017 May 22 doi: 10.1186/s13229-017-0137-9. PMID: 28540026Free PMC Article
Hallmayer J, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, Miller J, Fedele A, Collins J, Smith K, Lotspeich L, Croen LA, Ozonoff S, Lajonchere C, Grether JK, Risch N
Arch Gen Psychiatry 2011 Nov;68(11):1095-102. Epub 2011 Jul 4 doi: 10.1001/archgenpsychiatry.2011.76. PMID: 21727249Free PMC Article

Therapy

Cheng CM, Chen MH, Tsai SJ, Chang WH, Tsai CF, Lin WC, Bai YM, Su TP, Chen TJ, Li CT
JAMA Psychiatry 2024 Jul 1;81(7):663-672. doi: 10.1001/jamapsychiatry.2024.0378. PMID: 38568605Free PMC Article
Kim W, Moll M, Qiao D, Hobbs BD, Shrine N, Sakornsakolpat P, Tobin MD, Dudbridge F, Wain LV, Ladd-Acosta C, Chatterjee N, Silverman EK, Cho MH, Beaty TH
JAMA Netw Open 2021 Dec 1;4(12):e2139525. doi: 10.1001/jamanetworkopen.2021.39525. PMID: 34913977Free PMC Article
Viktorin A, Uher R, Reichenberg A, Levine SZ, Sandin S
Psychol Med 2017 Dec;47(16):2787-2796. Epub 2017 May 22 doi: 10.1017/S0033291717001301. PMID: 28528584Free PMC Article
Lyall K, Constantino JN, Weisskopf MG, Roberts AL, Ascherio A, Santangelo SL
JAMA Psychiatry 2014 Aug;71(8):936-42. doi: 10.1001/jamapsychiatry.2014.476. PMID: 25100167Free PMC Article
Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Jonasdottir A, Wong WS, Sigurdsson G, Walters GB, Steinberg S, Helgason H, Thorleifsson G, Gudbjartsson DF, Helgason A, Magnusson OT, Thorsteinsdottir U, Stefansson K
Nature 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396. PMID: 22914163Free PMC Article

Prognosis

Kundu S, Sair H, Sherr EH, Mukherjee P, Rohde GK
Sci Adv 2024 Jun 14;10(24):eadl5307. Epub 2024 Jun 12 doi: 10.1126/sciadv.adl5307. PMID: 38865470Free PMC Article
Fang Y, Cui Y, Yin Z, Hou M, Guo P, Wang H, Liu N, Cai C, Wang M
Gene 2023 Dec 15;887:147723. Epub 2023 Aug 18 doi: 10.1016/j.gene.2023.147723. PMID: 37598788
Taylor MJ, Rosenqvist MA, Larsson H, Gillberg C, D'Onofrio BM, Lichtenstein P, Lundström S
JAMA Psychiatry 2020 Sep 1;77(9):936-943. doi: 10.1001/jamapsychiatry.2020.0680. PMID: 32374377Free PMC Article
LaBianca S, Pagsberg AK, Jakobsen KD, Demur AB, Bartalan M, LaBianca J, Werge T
J Autism Dev Disord 2018 Oct;48(10):3629-3636. doi: 10.1007/s10803-018-3618-6. PMID: 29882106
O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J
Science 2012 Dec 21;338(6114):1619-22. Epub 2012 Nov 15 doi: 10.1126/science.1227764. PMID: 23160955Free PMC Article

Clinical prediction guides

LaBianca S, Pagsberg AK, Jakobsen KD, Demur AB, Bartalan M, LaBianca J, Werge T
J Autism Dev Disord 2018 Oct;48(10):3629-3636. doi: 10.1007/s10803-018-3618-6. PMID: 29882106
Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium
Mol Autism 2017;8:21. Epub 2017 May 22 doi: 10.1186/s13229-017-0137-9. PMID: 28540026Free PMC Article
O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J
Science 2012 Dec 21;338(6114):1619-22. Epub 2012 Nov 15 doi: 10.1126/science.1227764. PMID: 23160955Free PMC Article
Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Jonasdottir A, Wong WS, Sigurdsson G, Walters GB, Steinberg S, Helgason H, Thorleifsson G, Gudbjartsson DF, Helgason A, Magnusson OT, Thorsteinsdottir U, Stefansson K
Nature 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396. PMID: 22914163Free PMC Article
Hallmayer J, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, Miller J, Fedele A, Collins J, Smith K, Lotspeich L, Croen LA, Ozonoff S, Lajonchere C, Grether JK, Risch N
Arch Gen Psychiatry 2011 Nov;68(11):1095-102. Epub 2011 Jul 4 doi: 10.1001/archgenpsychiatry.2011.76. PMID: 21727249Free PMC Article

Recent systematic reviews

Fang Y, Cui Y, Yin Z, Hou M, Guo P, Wang H, Liu N, Cai C, Wang M
Gene 2023 Dec 15;887:147723. Epub 2023 Aug 18 doi: 10.1016/j.gene.2023.147723. PMID: 37598788

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