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Autism, susceptibility to, 10(AUTS10)

MedGen UID:
370865
Concept ID:
C1970242
Finding
Synonyms: Autism 10; AUTS10
 
Monarch Initiative: MONDO:0012601
OMIM®: 611016

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]

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
Blesson A, Cohen JS
Cold Spring Harb Perspect Med 2020 Apr 1;10(4) doi: 10.1101/cshperspect.a036533. PMID: 31501260Free PMC Article
Taurines R, Schwenck C, Westerwald E, Sachse M, Siniatchkin M, Freitag C
Atten Defic Hyperact Disord 2012 Sep;4(3):115-39. Epub 2012 Aug 1 doi: 10.1007/s12402-012-0086-2. PMID: 22851255

Recent clinical studies

Etiology

Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium, Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK
Nat Genet 2022 Sep;54(9):1305-1319. Epub 2022 Aug 18 doi: 10.1038/s41588-022-01148-2. PMID: 35982159Free PMC Article
Cryan JF, O'Riordan KJ, Sandhu K, Peterson V, Dinan TG
Lancet Neurol 2020 Feb;19(2):179-194. Epub 2019 Nov 18 doi: 10.1016/S1474-4422(19)30356-4. PMID: 31753762
Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, Pallesen J, Agerbo E, Andreassen OA, Anney R, Awashti S, Belliveau R, Bettella F, Buxbaum JD, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Christensen JH, Churchhouse C, Dellenvall K, Demontis D, De Rubeis S, Devlin B, Djurovic S, Dumont AL, Goldstein JI, Hansen CS, Hauberg ME, Hollegaard MV, Hope S, Howrigan DP, Huang H, Hultman CM, Klei L, Maller J, Martin J, Martin AR, Moran JL, Nyegaard M, Nærland T, Palmer DS, Palotie A, Pedersen CB, Pedersen MG, dPoterba T, Poulsen JB, Pourcain BS, Qvist P, Rehnström K, Reichenberg A, Reichert J, Robinson EB, Roeder K, Roussos P, Saemundsen E, Sandin S, Satterstrom FK, Davey Smith G, Stefansson H, Steinberg S, Stevens CR, Sullivan PF, Turley P, Walters GB, Xu X; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; BUPGEN; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; 23andMe Research Team, Stefansson K, Geschwind DH, Nordentoft M, Hougaard DM, Werge T, Mors O, Mortensen PB, Neale BM, Daly MJ, Børglum AD
Nat Genet 2019 Mar;51(3):431-444. Epub 2019 Feb 25 doi: 10.1038/s41588-019-0344-8. PMID: 30804558Free PMC Article
Taurines R, Schwenck C, Westerwald E, Sachse M, Siniatchkin M, Freitag C
Atten Defic Hyperact Disord 2012 Sep;4(3):115-39. Epub 2012 Aug 1 doi: 10.1007/s12402-012-0086-2. PMID: 22851255
Levy SE, Mandell DS, Schultz RT
Lancet 2009 Nov 7;374(9701):1627-38. Epub 2009 Oct 12 doi: 10.1016/S0140-6736(09)61376-3. PMID: 19819542Free PMC Article

Diagnosis

Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, Pallesen J, Agerbo E, Andreassen OA, Anney R, Awashti S, Belliveau R, Bettella F, Buxbaum JD, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Christensen JH, Churchhouse C, Dellenvall K, Demontis D, De Rubeis S, Devlin B, Djurovic S, Dumont AL, Goldstein JI, Hansen CS, Hauberg ME, Hollegaard MV, Hope S, Howrigan DP, Huang H, Hultman CM, Klei L, Maller J, Martin J, Martin AR, Moran JL, Nyegaard M, Nærland T, Palmer DS, Palotie A, Pedersen CB, Pedersen MG, dPoterba T, Poulsen JB, Pourcain BS, Qvist P, Rehnström K, Reichenberg A, Reichert J, Robinson EB, Roeder K, Roussos P, Saemundsen E, Sandin S, Satterstrom FK, Davey Smith G, Stefansson H, Steinberg S, Stevens CR, Sullivan PF, Turley P, Walters GB, Xu X; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; BUPGEN; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; 23andMe Research Team, Stefansson K, Geschwind DH, Nordentoft M, Hougaard DM, Werge T, Mors O, Mortensen PB, Neale BM, Daly MJ, Børglum AD
Nat Genet 2019 Mar;51(3):431-444. Epub 2019 Feb 25 doi: 10.1038/s41588-019-0344-8. PMID: 30804558Free PMC Article
Mold M, Umar D, King A, Exley C
J Trace Elem Med Biol 2018 Mar;46:76-82. Epub 2017 Nov 26 doi: 10.1016/j.jtemb.2017.11.012. PMID: 29413113
Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A
JAMA 2014 May 7;311(17):1770-7. doi: 10.1001/jama.2014.4144. PMID: 24794370Free PMC Article
Taurines R, Schwenck C, Westerwald E, Sachse M, Siniatchkin M, Freitag C
Atten Defic Hyperact Disord 2012 Sep;4(3):115-39. Epub 2012 Aug 1 doi: 10.1007/s12402-012-0086-2. PMID: 22851255
Levy SE, Mandell DS, Schultz RT
Lancet 2009 Nov 7;374(9701):1627-38. Epub 2009 Oct 12 doi: 10.1016/S0140-6736(09)61376-3. PMID: 19819542Free PMC Article

Therapy

Liufu C, Luo L, Pang T, Zheng H, Yang L, Lu L, Chang S
Mol Psychiatry 2024 Oct;29(10):3141-3150. Epub 2024 Apr 29 doi: 10.1038/s41380-024-02574-w. PMID: 38684796
Cristofori F, Dargenio VN, Dargenio C, Miniello VL, Barone M, Francavilla R
Front Immunol 2021;12:578386. Epub 2021 Feb 26 doi: 10.3389/fimmu.2021.578386. PMID: 33717063Free PMC Article
Cryan JF, O'Riordan KJ, Sandhu K, Peterson V, Dinan TG
Lancet Neurol 2020 Feb;19(2):179-194. Epub 2019 Nov 18 doi: 10.1016/S1474-4422(19)30356-4. PMID: 31753762
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
Taurines R, Schwenck C, Westerwald E, Sachse M, Siniatchkin M, Freitag C
Atten Defic Hyperact Disord 2012 Sep;4(3):115-39. Epub 2012 Aug 1 doi: 10.1007/s12402-012-0086-2. PMID: 22851255

Prognosis

Blesson A, Cohen JS
Cold Spring Harb Perspect Med 2020 Apr 1;10(4) doi: 10.1101/cshperspect.a036533. PMID: 31501260Free 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
Jeste SS, Geschwind DH
Nat Rev Neurol 2014 Feb;10(2):74-81. Epub 2014 Jan 28 doi: 10.1038/nrneurol.2013.278. PMID: 24468882Free PMC Article
Zafeiriou DI, Ververi A, Dafoulis V, Kalyva E, Vargiami E
Am J Med Genet B Neuropsychiatr Genet 2013 Jun;162B(4):327-66. Epub 2013 May 3 doi: 10.1002/ajmg.b.32152. PMID: 23650212
Dhossche DM
Med Sci Monit 2004 Mar;10(3):RA31-9. Epub 2004 Mar 1 PMID: 14976444

Clinical prediction guides

Singh T, Poterba T, Curtis D, Akil H, Al Eissa M, Barchas JD, Bass N, Bigdeli TB, Breen G, Bromet EJ, Buckley PF, Bunney WE, Bybjerg-Grauholm J, Byerley WF, Chapman SB, Chen WJ, Churchhouse C, Craddock N, Cusick CM, DeLisi L, Dodge S, Escamilla MA, Eskelinen S, Fanous AH, Faraone SV, Fiorentino A, Francioli L, Gabriel SB, Gage D, Gagliano Taliun SA, Ganna A, Genovese G, Glahn DC, Grove J, Hall MH, Hämäläinen E, Heyne HO, Holi M, Hougaard DM, Howrigan DP, Huang H, Hwu HG, Kahn RS, Kang HM, Karczewski KJ, Kirov G, Knowles JA, Lee FS, Lehrer DS, Lescai F, Malaspina D, Marder SR, McCarroll SA, McIntosh AM, Medeiros H, Milani L, Morley CP, Morris DW, Mortensen PB, Myers RM, Nordentoft M, O'Brien NL, Olivares AM, Ongur D, Ouwehand WH, Palmer DS, Paunio T, Quested D, Rapaport MH, Rees E, Rollins B, Satterstrom FK, Schatzberg A, Scolnick E, Scott LJ, Sharp SI, Sklar P, Smoller JW, Sobell JL, Solomonson M, Stahl EA, Stevens CR, Suvisaari J, Tiao G, Watson SJ, Watts NA, Blackwood DH, Børglum AD, Cohen BM, Corvin AP, Esko T, Freimer NB, Glatt SJ, Hultman CM, McQuillin A, Palotie A, Pato CN, Pato MT, Pulver AE, St Clair D, Tsuang MT, Vawter MP, Walters JT, Werge TM, Ophoff RA, Sullivan PF, Owen MJ, Boehnke M, O'Donovan MC, Neale BM, Daly MJ
Nature 2022 Apr;604(7906):509-516. Epub 2022 Apr 8 doi: 10.1038/s41586-022-04556-w. PMID: 35396579Free PMC Article
Mold M, Umar D, King A, Exley C
J Trace Elem Med Biol 2018 Mar;46:76-82. Epub 2017 Nov 26 doi: 10.1016/j.jtemb.2017.11.012. PMID: 29413113
Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A, Holmans PA, Pinto D, Gujral M, Brandler WM, Malhotra D, Wang Z, Fajarado KVF, Maile MS, Ripke S, Agartz I, Albus M, Alexander M, Amin F, Atkins J, Bacanu SA, Belliveau RA Jr, Bergen SE, Bertalan M, Bevilacqua E, Bigdeli TB, Black DW, Bruggeman R, Buccola NG, Buckner RL, Bulik-Sullivan B, Byerley W, Cahn W, Cai G, Cairns MJ, Campion D, Cantor RM, Carr VJ, Carrera N, Catts SV, Chambert KD, Cheng W, Cloninger CR, Cohen D, Cormican P, Craddock N, Crespo-Facorro B, Crowley JJ, Curtis D, Davidson M, Davis KL, Degenhardt F, Del Favero J, DeLisi LE, Dikeos D, Dinan T, Djurovic S, Donohoe G, Drapeau E, Duan J, Dudbridge F, Eichhammer P, Eriksson J, Escott-Price V, Essioux L, Fanous AH, Farh KH, Farrell MS, Frank J, Franke L, Freedman R, Freimer NB, Friedman JI, Forstner AJ, Fromer M, Genovese G, Georgieva L, Gershon ES, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, Gratten J, de Haan L, Hamshere ML, Hansen M, Hansen T, Haroutunian V, Hartmann AM, Henskens FA, Herms S, Hirschhorn JN, Hoffmann P, Hofman A, Huang H, Ikeda M, Joa I, Kähler AK, Kahn RS, Kalaydjieva L, Karjalainen J, Kavanagh D, Keller MC, Kelly BJ, Kennedy JL, Kim Y, Knowles JA, Konte B, Laurent C, Lee P, Lee SH, Legge SE, Lerer B, Levy DL, Liang KY, Lieberman J, Lönnqvist J, Loughland CM, Magnusson PKE, Maher BS, Maier W, Mallet J, Mattheisen M, Mattingsdal M, McCarley RW, McDonald C, McIntosh AM, Meier S, Meijer CJ, Melle I, Mesholam-Gately RI, Metspalu A, Michie PT, Milani L, Milanova V, Mokrab Y, Morris DW, Müller-Myhsok B, Murphy KC, Murray RM, Myin-Germeys I, Nenadic I, Nertney DA, Nestadt G, Nicodemus KK, Nisenbaum L, Nordin A, O'Callaghan E, O'Dushlaine C, Oh SY, Olincy A, Olsen L, O'Neill FA, Van Os J, Pantelis C, Papadimitriou GN, Parkhomenko E, Pato MT, Paunio T; Psychosis Endophenotypes International Consortium, Perkins DO, Pers TH, Pietiläinen O, Pimm J, Pocklington AJ, Powell J, Price A, Pulver AE, Purcell SM, Quested D, Rasmussen HB, Reichenberg A, Reimers MA, Richards AL, Roffman JL, Roussos P, Ruderfer DM, Salomaa V, Sanders AR, Savitz A, Schall U, Schulze TG, Schwab SG, Scolnick EM, Scott RJ, Seidman LJ, Shi J, Silverman JM, Smoller JW, Söderman E, Spencer CCA, Stahl EA, Strengman E, Strohmaier J, Stroup TS, Suvisaari J, Svrakic DM, Szatkiewicz JP, Thirumalai S, Tooney PA, Veijola J, Visscher PM, Waddington J, Walsh D, Webb BT, Weiser M, Wildenauer DB, Williams NM, Williams S, Witt SH, Wolen AR, Wormley BK, Wray NR, Wu JQ, Zai CC, Adolfsson R, Andreassen OA, Blackwood DHR, Bramon E, Buxbaum JD, Cichon S, Collier DA, Corvin A, Daly MJ, Darvasi A, Domenici E, Esko T, Gejman PV, Gill M, Gurling H, Hultman CM, Iwata N, Jablensky AV, Jönsson EG, Kendler KS, Kirov G, Knight J, Levinson DF, Li QS, McCarroll SA, McQuillin A, Moran JL, Mowry BJ, Nöthen MM, Ophoff RA, Owen MJ, Palotie A, Pato CN, Petryshen TL, Posthuma D, Rietschel M, Riley BP, Rujescu D, Sklar P, St Clair D, Walters JTR, Werge T, Sullivan PF, O'Donovan MC, Scherer SW, Neale BM, Sebat J; CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium
Nat Genet 2017 Jan;49(1):27-35. Epub 2016 Nov 21 doi: 10.1038/ng.3725. PMID: 27869829Free PMC Article
Krumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, Raja A, Coe BP, Stessman HA, He ZX, Leal SM, Bernier R, Eichler EE
Nat Genet 2015 Jun;47(6):582-8. Epub 2015 May 11 doi: 10.1038/ng.3303. PMID: 25961944Free PMC Article
Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR
Nature 2013 Sep 12;501(7466):217-21. Epub 2013 Aug 11 doi: 10.1038/nature12439. PMID: 23934111Free PMC Article

Recent systematic reviews

Vilela J, Rasga C, Santos JX, Martiniano H, Marques AR, Oliveira G, Vicente AM
Int J Mol Sci 2024 Apr 30;25(9) doi: 10.3390/ijms25094938. PMID: 38732157Free PMC Article
Pascual-Morena C, Cavero-Redondo I, Martínez-Vizcaíno V, Sequí-Domínguez I, Fernández-Bravo-Rodrigo J, Jiménez-López E
J Neuromuscul Dis 2023;10(2):159-172. doi: 10.3233/JND-221586. PMID: 36565132Free PMC Article
Yu X, Rahman MM, Wang Z, Carter SA, Schwartz J, Chen Z, Eckel SP, Hackman D, Chen JC, Xiang AH, McConnell R
Environ Res 2022 May 15;208:112590. Epub 2021 Dec 17 doi: 10.1016/j.envres.2021.112590. PMID: 34929192Free PMC Article
Griessenauer CJ, Farrell S, Sarkar A, Zand R, Abedi V, Holland N, Michael A, Cummings CL, Metpally R, Carey DJ, Goren O, Martin N, Hendrix P, Schirmer CM
J Cereb Blood Flow Metab 2018 Nov;38(11):1853-1871. Epub 2018 Sep 5 doi: 10.1177/0271678X18797958. PMID: 30182779Free PMC Article
Rossignol DA, Genuis SJ, Frye RE
Transl Psychiatry 2014 Feb 11;4(2):e360. doi: 10.1038/tp.2014.4. PMID: 24518398Free PMC Article

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