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Autism, susceptibility to, 7(AUTS7)

MedGen UID:
410155
Concept ID:
C1970807
Finding
Synonyms: Autism 7; AUTS7
 
Monarch Initiative: MONDO:0012533
OMIM®: 610676

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

Miller DT
Expert Rev Mol Diagn 2010 Oct;10(7):837-40. doi: 10.1586/erm.10.82. PMID: 20964600
Curatolo P, Napolioni V, Moavero R
J Child Neurol 2010 Jul;25(7):873-80. Epub 2010 Mar 5 doi: 10.1177/0883073810361789. PMID: 20207609
Kidd PM
Altern Med Rev 2002 Dec;7(6):472-99. PMID: 12495373

Recent clinical studies

Etiology

Cross-Disorder Group of the Psychiatric Genomics Consortium. Electronic address: plee0@mgh.harvard.edu; Cross-Disorder Group of the Psychiatric Genomics Consortium
Cell 2019 Dec 12;179(7):1469-1482.e11. doi: 10.1016/j.cell.2019.11.020. PMID: 31835028Free 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
Hviid A, Hansen JV, Frisch M, Melbye M
Ann Intern Med 2019 Apr 16;170(8):513-520. Epub 2019 Mar 5 doi: 10.7326/M18-2101. PMID: 30831578
Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium, Church GM, Scherer SW, Buxbaum JD, Walsh CA
Nat Neurosci 2017 Sep;20(9):1217-1224. Epub 2017 Jul 17 doi: 10.1038/nn.4598. PMID: 28714951Free PMC Article
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

Diagnosis

Kay SS, Delgado S, Mittal J, Eshraghi RS, Mittal R, Eshraghi AA
J Nutr 2021 May 11;151(5):1061-1072. doi: 10.1093/jn/nxaa454. PMID: 33693747
Cross-Disorder Group of the Psychiatric Genomics Consortium. Electronic address: plee0@mgh.harvard.edu; Cross-Disorder Group of the Psychiatric Genomics Consortium
Cell 2019 Dec 12;179(7):1469-1482.e11. doi: 10.1016/j.cell.2019.11.020. PMID: 31835028Free 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
Hviid A, Hansen JV, Frisch M, Melbye M
Ann Intern Med 2019 Apr 16;170(8):513-520. Epub 2019 Mar 5 doi: 10.7326/M18-2101. PMID: 30831578
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

Therapy

Wingo TS, Gerasimov ES, Liu Y, Duong DM, Vattathil SM, Lori A, Gockley J, Breen MS, Maihofer AX, Nievergelt CM, Koenen KC, Levey DF, Gelernter J, Stein MB, Ressler KJ, Bennett DA, Levey AI, Seyfried NT, Wingo AP
Mol Psychiatry 2022 Jul;27(7):3075-3084. Epub 2022 Apr 21 doi: 10.1038/s41380-022-01544-4. PMID: 35449297Free PMC Article
Hviid A, Hansen JV, Frisch M, Melbye M
Ann Intern Med 2019 Apr 16;170(8):513-520. Epub 2019 Mar 5 doi: 10.7326/M18-2101. PMID: 30831578
Rosenfeld CS
Front Cell Infect Microbiol 2017;7:396. Epub 2017 Sep 8 doi: 10.3389/fcimb.2017.00396. PMID: 28936425Free PMC Article
Silverman JL, Crawley JN
Drug Discov Today 2014 Jul;19(7):838-44. Epub 2013 Dec 18 doi: 10.1016/j.drudis.2013.12.007. PMID: 24362109
Becker KG, Schultz ST
Med Hypotheses 2010 Jan;74(1):7-11. Epub 2009 Sep 11 doi: 10.1016/j.mehy.2009.08.033. PMID: 19748189Free PMC Article

Prognosis

Rahman MM, Shu YH, Chow T, Lurmann FW, Yu X, Martinez MP, Carter SA, Eckel SP, Chen JC, Chen Z, Levitt P, Schwartz J, McConnell R, Xiang AH
Environ Health Perspect 2022 Jan;130(1):17008. Epub 2022 Jan 18 doi: 10.1289/EHP9509. PMID: 35040691Free PMC Article
Huberty S, Carter Leno V, van Noordt SJR, Bedford R, Pickles A, Desjardins JA, Webb SJ; BASIS Team, Elsabbagh M
Autism Res 2021 Jul;14(7):1390-1403. Epub 2021 May 6 doi: 10.1002/aur.2518. PMID: 33955195Free PMC Article
Tsang B, Pritišanac I, Scherer SW, Moses AM, Forman-Kay JD
Cell 2020 Dec 23;183(7):1742-1756. doi: 10.1016/j.cell.2020.11.050. PMID: 33357399
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
Cross-Disorder Group of the Psychiatric Genomics Consortium. Electronic address: plee0@mgh.harvard.edu; Cross-Disorder Group of the Psychiatric Genomics Consortium
Cell 2019 Dec 12;179(7):1469-1482.e11. doi: 10.1016/j.cell.2019.11.020. PMID: 31835028Free PMC Article

Clinical prediction guides

Tsang B, Pritišanac I, Scherer SW, Moses AM, Forman-Kay JD
Cell 2020 Dec 23;183(7):1742-1756. doi: 10.1016/j.cell.2020.11.050. PMID: 33357399
Cross-Disorder Group of the Psychiatric Genomics Consortium. Electronic address: plee0@mgh.harvard.edu; Cross-Disorder Group of the Psychiatric Genomics Consortium
Cell 2019 Dec 12;179(7):1469-1482.e11. doi: 10.1016/j.cell.2019.11.020. PMID: 31835028Free PMC Article
Hviid A, Hansen JV, Frisch M, Melbye M
Ann Intern Med 2019 Apr 16;170(8):513-520. Epub 2019 Mar 5 doi: 10.7326/M18-2101. PMID: 30831578
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
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

Radke EG, Braun JM, Nachman RM, Cooper GS
Environ Int 2020 Apr;137:105408. Epub 2020 Feb 8 doi: 10.1016/j.envint.2019.105408. PMID: 32045779Free PMC Article
Sadeghiyeh T, Dastgheib SA, Mirzaee-Khoramabadi K, Morovati-Sharifabad M, Akbarian-Bafghi MJ, Poursharif Z, Mirjalili SR, Neamatzadeh H
Asian J Psychiatr 2019 Dec;46:54-61. Epub 2019 Sep 23 doi: 10.1016/j.ajp.2019.09.016. PMID: 31614268
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
Lim YH, Partridge K, Girdler S, Morris SL
J Autism Dev Disord 2017 Jul;47(7):2238-2253. doi: 10.1007/s10803-017-3144-y. PMID: 28508177
Lionetti E, Francavilla R, Pavone P, Pavone L, Francavilla T, Pulvirenti A, Giugno R, Ruggieri M
Dev Med Child Neurol 2010 Aug;52(8):700-7. Epub 2010 Mar 19 doi: 10.1111/j.1469-8749.2010.03647.x. PMID: 20345955

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