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Autism spectrum disorder(ASD)

MedGen UID:
307153
Concept ID:
C1510586
Mental or Behavioral Dysfunction
Synonyms: Autism spectrum disorders; Autism susceptibility
 
Genes (locations): PTCHD1 (Xp22.11); RPL10 (Xq28); SHANK2 (11q13.3-13.4)
Related genes: NLGN4X, NLGN3, TBR1, SNRPN, MECP2
 
Monarch Initiative: MONDO:0005258
OMIM®: 209850
Orphanet: ORPHA106

Definition

A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors. [from NCI]

Professional guidelines

PubMed

Daly MB, Pilarski R, Axilbund JE, Buys SS, Crawford B, Friedman S, Garber JE, Horton C, Kaklamani V, Klein C, Kohlmann W, Kurian A, Litton J, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Pasche B, Reiser G, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wiesner GL, Dwyer MA, Kumar R; National comprehensive cancer network.
J Natl Compr Canc Netw 2014 Sep;12(9):1326-38. doi: 10.6004/jnccn.2014.0127. PMID: 25190698
Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee.
Genet Med 2013 May;15(5):399-407. Epub 2013 Mar 21 doi: 10.1038/gim.2013.32. PMID: 23519317
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article
Toriello HV, Meck JM; Professional Practice and Guidelines Committee.
Genet Med 2008 Jun;10(6):457-60. doi: 10.1097/GIM.0b013e318176fabb. PMID: 18496227Free PMC Article
Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee.
Genet Med 2008 Apr;10(4):301-5. doi: 10.1097/GIM.0b013e31816b5cc9. PMID: 18414214Free PMC Article
Shaffer LG; American College of Medical Genetics Professional Practice and Guidelines Committee.
Genet Med 2005 Nov-Dec;7(9):650-4. doi: 10.1097/01.gim.0000186545.83160.1e. PMID: 16301868Free PMC Article

Recent clinical studies

Etiology

Munch TN, Hedley PL, Hagen CM, Bækvad-Hansen M, Bybjerg-Grauholm J, Grove J, Nordentoft M, Børglum AD, Mortensen PB, Werge TM, Melbye M, Hougaard DM, Christiansen M
J Neurodev Disord 2021 Apr 28;13(1):19. doi: 10.1186/s11689-021-09367-0. PMID: 33910498Free PMC Article
Morales Hidalgo P, Voltas Moreso N, Canals Sans J
Autism 2021 Oct;25(7):1999-2011. Epub 2021 Apr 22 doi: 10.1177/13623613211007717. PMID: 33884927
Snijder MI, Kaijadoe SP, van 't Hof M, Ester WA, Buitelaar JK, Oosterling IJ
Autism 2021 Oct;25(7):2012-2024. Epub 2021 Apr 22 doi: 10.1177/13623613211009345. PMID: 33884893
Wong PP, Wai VC, Chan RW, Leung CN, Leung PW
Autism 2021 Oct;25(7):1913-1923. Epub 2021 Apr 12 doi: 10.1177/13623613211003740. PMID: 33840205
Hashimoto T, Yokota S, Matsuzaki Y, Kawashima R
Autism 2021 Oct;25(7):1901-1912. Epub 2021 Mar 28 doi: 10.1177/13623613211004058. PMID: 33779333Free PMC Article

Diagnosis

Morales Hidalgo P, Voltas Moreso N, Canals Sans J
Autism 2021 Oct;25(7):1999-2011. Epub 2021 Apr 22 doi: 10.1177/13623613211007717. PMID: 33884927
Snijder MI, Kaijadoe SP, van 't Hof M, Ester WA, Buitelaar JK, Oosterling IJ
Autism 2021 Oct;25(7):2012-2024. Epub 2021 Apr 22 doi: 10.1177/13623613211009345. PMID: 33884893
Wong PP, Wai VC, Chan RW, Leung CN, Leung PW
Autism 2021 Oct;25(7):1913-1923. Epub 2021 Apr 12 doi: 10.1177/13623613211003740. PMID: 33840205
Wu CC, Chiang CH, Chu CL, Iao LS, Hou YM
Autism 2021 May;25(4):911-920. Epub 2020 Nov 27 doi: 10.1177/1362361320972300. PMID: 33246362
van 't Hof M, Tisseur C, van Berckelear-Onnes I, van Nieuwenhuyzen A, Daniels AM, Deen M, Hoek HW, Ester WA
Autism 2021 May;25(4):862-873. Epub 2020 Nov 19 doi: 10.1177/1362361320971107. PMID: 33213190

Therapy

Munch TN, Hedley PL, Hagen CM, Bækvad-Hansen M, Bybjerg-Grauholm J, Grove J, Nordentoft M, Børglum AD, Mortensen PB, Werge TM, Melbye M, Hougaard DM, Christiansen M
J Neurodev Disord 2021 Apr 28;13(1):19. doi: 10.1186/s11689-021-09367-0. PMID: 33910498Free PMC Article
DiGuiseppi C, Rosenberg SA, Tomcho MA, Colborn K, Hightshoe K, Gutiérrez-Raghunath S, Cordova JM, Dooling-Litfin JK, Rosenberg CR
Autism 2021 May;25(4):946-957. Epub 2020 Nov 27 doi: 10.1177/1362361320974175. PMID: 33246390
Au AH, Shum KK, Cheng Y, Tse HM, Wong RM, Li J, Au TK
Autism 2021 Feb;25(2):516-528. Epub 2020 Nov 5 doi: 10.1177/1362361320967529. PMID: 33153314Free PMC Article
Ames JL, Massolo ML, Davignon MN, Qian Y, Croen LA
Autism 2021 Apr;25(3):705-718. Epub 2020 Jun 25 doi: 10.1177/1362361320931268. PMID: 32583679
Chen Y, Fang H, Li C, Wu G, Xu T, Yang X, Zhao L, Ke X, Zhang C
mSphere 2020 Dec 2;5(6) doi: 10.1128/mSphere.01044-20. PMID: 33268567Free PMC Article

Prognosis

Crippa A, Craig F, Busti Ceccarelli S, Mauri M, Grazioli S, Scionti N, Cremascoli A, Ferrante C, Visioli C, Marzocchi GM, Molteni M, Nobile M
Autism 2021 Jul;25(5):1481-1491. Epub 2021 Mar 2 doi: 10.1177/1362361321995634. PMID: 33653167
Au AH, Shum KK, Cheng Y, Tse HM, Wong RM, Li J, Au TK
Autism 2021 Feb;25(2):516-528. Epub 2020 Nov 5 doi: 10.1177/1362361320967529. PMID: 33153314Free PMC Article
Sandercock RK, Lamarche EM, Klinger MR, Klinger LG
Autism 2020 Nov;24(8):2256-2268. Epub 2020 Aug 2 doi: 10.1177/1362361320942981. PMID: 32744068Free PMC Article
Hosozawa M, Sacker A, Mandy W, Midouhas E, Flouri E, Cable N
Autism 2020 Aug;24(6):1557-1565. Epub 2020 May 5 doi: 10.1177/1362361320913671. PMID: 32367727Free PMC Article
Yu L, Stronach S, Harrison AJ
Autism 2020 Aug;24(6):1531-1545. Epub 2020 Apr 27 doi: 10.1177/1362361319900839. PMID: 32338539

Clinical prediction guides

Hashimoto T, Yokota S, Matsuzaki Y, Kawashima R
Autism 2021 Oct;25(7):1901-1912. Epub 2021 Mar 28 doi: 10.1177/13623613211004058. PMID: 33779333Free PMC Article
Crippa A, Craig F, Busti Ceccarelli S, Mauri M, Grazioli S, Scionti N, Cremascoli A, Ferrante C, Visioli C, Marzocchi GM, Molteni M, Nobile M
Autism 2021 Jul;25(5):1481-1491. Epub 2021 Mar 2 doi: 10.1177/1362361321995634. PMID: 33653167
Au AH, Shum KK, Cheng Y, Tse HM, Wong RM, Li J, Au TK
Autism 2021 Feb;25(2):516-528. Epub 2020 Nov 5 doi: 10.1177/1362361320967529. PMID: 33153314Free PMC Article
Jachyra P, Renwick R, Gladstone B, Anagnostou E, Gibson BE
Autism 2021 Apr;25(3):613-626. Epub 2020 Sep 14 doi: 10.1177/1362361320949344. PMID: 32921151
Uono S, Yoshimura S, Toichi M
Autism 2021 Jan;25(1):137-147. Epub 2020 Aug 27 doi: 10.1177/1362361320949721. PMID: 32847375

Recent systematic reviews

Waddington H, Reynolds JE, Macaskill E, Curtis S, Taylor LJ, Whitehouse AJ
Autism 2021 Nov;25(8):2370-2385. Epub 2021 Aug 4 doi: 10.1177/13623613211019162. PMID: 34348479
Dean M, Chang YC
Autism 2021 Oct;25(7):1828-1843. Epub 2021 Jul 7 doi: 10.1177/13623613211012886. PMID: 34231405
van 't Hof M, Tisseur C, van Berckelear-Onnes I, van Nieuwenhuyzen A, Daniels AM, Deen M, Hoek HW, Ester WA
Autism 2021 May;25(4):862-873. Epub 2020 Nov 19 doi: 10.1177/1362361320971107. PMID: 33213190
Ghozy S, Tran L, Naveed S, Quynh TTH, Helmy Zayan A, Waqas A, Sayed AKH, Karimzadeh S, Hirayama K, Huy NT
Asian J Psychiatr 2020 Feb;48:101916. Epub 2019 Dec 27 doi: 10.1016/j.ajp.2019.101916. PMID: 31923810
Wang J, Hedley D, Bury SM, Barbaro J
Autism 2020 Feb;24(2):285-296. Epub 2019 Aug 20 doi: 10.1177/1362361319871174. PMID: 31431046

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