Citation List – Articles Selected for the 2012 Summary of Advances

Question 1: When Should I Be Concerned?

Fountain C, Winter AS, Bearman PS. Six developmental trajectories characterize children with autism. Pediatrics. 2012 May;129(5):e1112-20. [PMID: 22473372]

Skafidas E, Testa R, Zantomio D, Chana G, Everall IP, & Pantelis C. Predicting the diagnosis of autism spectrum disorder using gene pathway analysis. Mol Psychiatry. 2012 Sep 11. [Epub ahead of print] [PMID: 22965006]

Question 2: How Can I Understand What Is Happening?

Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19;338(6105):394-7. [PMID: 22956686]

Wolff JJ, Gu H, Gerig G, Elison JT, Styner M, Gouttard S, Botteron KN, Dager SR, Dawson G, Estes AM, Evans AC, Hazlett HC, Kostopoulos P, McKinstry RC, Paterson SJ, Schultz RT, Zwaigenbaum L, Piven J; IBIS Network. Differences in white matter fiber tract development present from 6 to 24 months in infants with autism. Am J Psychiatry. 2012 Jun;169(6):589-600. [PMID: 22362397]

Won H, Lee HR, Gee HY, Mah W, Kim JI, Lee J, Ha S, Chung C, Jung ES, Cho YS, Park SG, Lee JS, Lee K, Kim D, Bae YC, Kaang BK, Lee MG, Kim E. Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. Nature. 2012 Jun 13;486(7402):261-5. [PMID: 22699620]

Question 3: What Caused This to Happen and Can It Be Prevented?

Atladóttir HO, Henriksen TB, Schendel DE, Parner ET. Autism after infection, febrile episodes, and antibiotic use during pregnancy: An exploratory study. Pediatrics. 2013 Dec;130(6):e1447-54. [PMID: 23147969]

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. Rate of de novo mutations and the importance of father's age to disease risk. Nature. 2012 Aug 23;488(7412):471-5. [PMID: 22914163]

Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Patterns and rates of exonic de novo mutations in autism spectrum disorders.  Nature. 2012 Apr 4;485(7397):242-5. [PMID: 22495311]

O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012 Apr 4;485(7397):246-50. [PMID: 22495309]

Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012 Apr 4;485(7397):237-41. [PMID: 22495306]

Question 4: Which Treatments and Interventions Will Help?

Berry-Kravis EM, Hessl D, Rathmell B, Zarevics P, Cherubini M, Walton-Bowen K, Mu Y, Nguyen DV, Gonzalez-Heydrich J, Wang PP, Carpenter RL, Bear MF, Hagerman RJ. Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: A randomized, controlled, phase 2 trial. Sci Transl Med. 2012 Sep 19;4(152):152ra127. [PMID: 22993294]

Dawson G, Jones EJ, Merkle K, Venema K, Lowy R, Faja S, Kamara D, Murias M, Greenson J, Winter J, Smith M, Rogers SJ, Webb SJ. Early behavioral intervention is associated with normalized brain activity in young children with autism. J Am Acad Child Adolesc Psychiatry. 2012 Nov;51(11):1150-9. [PMID: 23101741]

Rogers SJ, Estes A, Lord C, Vismara L, Winter J, Fitzpatrick A, Guo M, Dawson G. Effects of a brief Early Start Denver Model (ESDM)-based parent intervention on toddlers at risk for autism spectrum disorders: A randomized controlled trial. J Am Acad Child Adolesc Psychiatry. 2012 Oct;51(10):1052-65. [PMID: 23021480]

Question 5: Where Can I Turn for Services?

Anderson C, Law JK, Daniels A, Rice C, Mandell DS, Hagopian L, Law PA. Occurrence and family impact of elopement in children with autism spectrum disorders. Pediatrics. 2012 Nov;130(5):870-7. [PMID: 23045563]

Bilder D, Botts EL, Smith KR, Pimentel R, Farley M, Viskochil J, McMahon WM, Block H, Ritvo E, Ritvo RA, Coon H. Excess mortality and causes of death in autism spectrum disorders: A follow up of the 1980s Utah/UCLA Autism Epidemiologic Study. J Autism Dev Disord. 2012 Sep 25. [Epub ahead of print] [PMID: 23008058]

Question 6: What Does the Future Hold, Particularly for Adults?

Cimera RE, Wehman P, West M, Burgess S. Do sheltered workshops enhance employment outcomes for adults with autism spectrum disorder? Autism. 2012 Jan;16(1):87-94. [PMID: 21610189]

Shattuck PT, Narendorf SC, Cooper B, Sterzing PR, Wagner M, Taylor JL. Postsecondary education and employment among youth with an autism spectrum disorder. Pediatrics. 2012 Jun;129(6):1042-9. [PMID: 22585766]

Smith LE, Maenner MJ, Seltzer MM. Developmental trajectories in adolescents and adults with autism: The case of daily living skills. J Am Acad Child Adolesc Psychiatry. 2012 Jun;51(6):622-31. [PMID: 22632621]

Taylor JL, McPheeters ML, Sathe NA, Dove D, Veenstra-Vanderweele J, Warren Z. A systematic review of vocational interventions for young adults with autism spectrum disorders. Pediatrics. 2012 Sep;130(3):531-8. [PMID: 22926170]

Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

Centers for Disease Control and Prevention (CDC); Autism and Developmental Disabilities Monitoring Network - Surveillance Year 2008 Principal Investigators. Prevalence of Autism Spectrum Disorders - Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008. MMWR Surveill Summ. 2012 Mar; 61(3):1-19. [PMID: 22456193]

Full Listing of Nominated Articles

Question 1: When Should I Be Concerned?

Allison C, Auyeung B, Baron-Cohen S. Toward brief “Red Flags” for autism screening: The Short Autism Spectrum Quotient and the Short Quantitative Checklist for Autism in toddlers in 1,000 cases and 3,000 controls [corrected]. J Am Acad Child Adolesc Psychiatry. 2012 Feb;51(2):202–212.e7 [PMID: 22265366]

Duffy FH, Als H. A stable pattern of EEG spectral coherence distinguishes children with autism from neuro-typical controls - a large case control study. BMC Med. 2012 Jun 26;10:64. [PMID: 22730909]

Elsabbagh M, Mercure E, Hudry K, Chandler S, Pasco G, Charman T, Pickles A, Baron-Cohen S, Bolton P, Johnson MH; BASIS Team. Infant neural sensitivity to dynamic eye gaze is associated with later emerging autism. Curr Biol. 2012 Feb 21;22(4):338-42. [PMID: 22285033]

Selected Article
Fountain C, Winter AS,  Bearman PS. Six developmental trajectories characterize children with autism. Pediatrics. 2012 May;129(5):e1112-20. [PMID: 22473372]

Frazier TW, Youngstrom EA, Speer L, Embacher R, Law P, Constantino J, Findling RL, Hardan AY, Eng C. Validation of proposed DSM-5 criteria for autism spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2012 Jan;51(1):28-40.e3. [PMID: 22176937]

Glatt SJ, Tsuang MT, Winn M, Chandler SD, Collins M, Lopez L, Weinfeld M, Carter C, Schork N, Pierce K, Courchesne E. Blood-based gene expression signatures of infants and toddlers with autism.  J Am Acad Child Adolesc Psychiatry. 2012 Sep;51(9), 934-944. [PMID: 22917206]

Lord C, Petkova E, Hus V, Gan W, Lu F, Martin DM, Ousley O, Guy L, Bernier R, Gerdts J, Algermissen M, Whitaker A, Sutcliffe JS, Warren Z, Klin A, Saulnier C, Hanson E, Hundley R, Piggot J, Fombonne E, Steiman M, Miles J, Kanne SM, Goine-Kochel RP, Peters SU, Cook EH, Guter S, Tjernagel J, Green-Snyder LA, Bishop S, Esler A, Gotham K, Luyster R, Miller F, Olson J, Richler J, Risi S.A multisite study of the clinical diagnosis of different autism spectrum disorders. Arch Gen Psychiatry. 2012 Mar;69(3):306-13. [PMID: 22065253]

Selected Article
Skafidas E, Testa R, Zantomio D, Chana G, Everall IP, & Pantelis C. Predicting the diagnosis of autism spectrum disorder using gene pathway analysis. Mol Psychiatry. 2012 Sep 11. [Epub ahead of print] [PMID: 22965006]

Turner-Brown LM, Baranek GT, Reznick JS, Watson LR, Crais ER. The First Year Inventory: A longitudinal follow-up of 12-month-old to 3-year-old children. Autism. 2012 Aug 2. [Epub ahead of print] [PMID: 22781058]

Valicenti-McDermott M, Hottinger K, Seijo R, Shulman L. Age at diagnosis of autism spectrum disorders. J Pediatr. 2012 Sep;161(3):554-6. [PMID: 22683037]

Wiggins LD, Baio J, Schieve L, Lee LC, Nicholas J, Rice CE.  Retention of autism spectrum diagnoses by community professionals: Findings from the Autism and Developmental Disabilities Monitoring Network, 2000 and 2006.  J Dev Behav Pediatr. 2012 Jun;33(5):387-95. [PMID: 22580734]

Worley JA, Matson JL. Comparing symptoms of autism spectrum disorders using the current DSM-IV-TR diagnostic criteria and the proposed DSM-V diagnostic criteria . Res Autism Spectr Disord. April-June 2012;6(2):965-70.

Question 2: How Can I Understand What Is Happening?

Clement JP, Aceti M, Creson TK, Ozkan ED, Shi Y, Reish NJ, Almonte AG, Miller BH, Wiltgen BJ, Miller CA, Xu X, Rumbaugh G. Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. Cell. 2012 Nov 9;151(4):709-23. [PMID: 23141534]

Dworzynski K, Ronald A, Bolton P, Happé F. How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders? J Am Acad Child Adolesc Psychiatry. 2012 Aug;51(8):788-97. [PMID: 22840550]

Gkogkas CG, Khoutorsky A, Ran I, Rampakakis E, Nevarko T, Weatherill DB, Vasuta C, Yee S, Truitt M, Dallaire P, Major F, Lasko P, Ruggero D, Nader K, Lacaille JC, Sonenberg N. Autism-related deficits via dysregulated eIF4E-dependent translational control. Nature. 2013 Jan 17;493(7432):371-7. [PMID: 23172145]

Gotts SJ, Simmons WK, Milbury LA, Wallace GL, Cox RW, Martin A. Fractionation of social brain circuits in autism spectrum disorders. Brain. 2012 Sep;135(Pt 9):2711-25. [PMID: 22791801]

Hsiao EY, McBride SW, Chow J, Mazmanian SK, Patterson PH. Modeling an autism risk factor in mice leads to permanent immune dysregulation. Proc Natl Acad Sci. 2012 Jul 31;109(31):12776-81. [PMID: 22802640]

Maljaars J, Noens I, Scholte E, van Berckelaer-Onnes I. Language in low-functioning children with autistic disorder: Differences between receptive and expressive skills and concurrent predictors of language. J Autism Dev Disord. 2012 Oct;42(10):2181-91. [PMID: 22350453]

Selected Article
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19;338(6105):394-7. [PMID: 22956686]

Rudie JD, Hernandez LM, Brown JA, Beck-Pancer D, Colich NL, Gorrindo P, Thompson PM, Geschwind DH, Bookheimer SY, Levitt P, Dapretto M. Autism-associated promoter variant in MET impacts functional and structural brain networks. Neuron. 2012 Sep 6;75(5):904-15. [PMID: 22958829]

Tierney AL, Gabard-Durnam L, Vogel-Farley V, Tager-Flusberg H, Nelson CA. Developmental trajectories of resting EEG power: an endophenotype of autism spectrum disorder. PLoS One. 2012;7(6):e39127. [PMID: 22745707]

Tsai NP, Wilkerson JR, Guo W, Maksimova MA, Demartino GN, Cowan CW, Huber KM. Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95. Cell. 2012 Dec 21;151(7):1581-94. [PMID: 23260144]

Wedeen VJ, Rosene DL, Wang R, Dai G, Mortazavi F, Hagmann P, Kaas JH, Tseng WY. The geometric structure of the brain fiber pathways. Science. 2012 Mar 30;335(6076):1628-34. [PMID: 22461612]

Selected Article
Wolff JJ, Gu H, Gerig G, Elison JT, Styner M, Gouttard S, Botteron KN, Dager SR, Dawson G, Estes AM, Evans AC, Hazlett HC, Kostopoulos P, McKinstry RC, Paterson SJ, Schultz RT, Zwaigenbaum L, Piven J; IBIS Network. Differences in white matter fiber tract development present from 6 to 24 months in infants with autism. Am J Psychiatry. 2012 Jun;169(6):589-600. [PMID: 22362397]

Selected Article
Won H, Lee HR, Gee HY, Mah W, Kim JI, Lee J, Ha S, Chung C, Jung ES, Cho YS, Park SG, Lee JS, Lee K, Kim D, Bae YC, Kaang BK, Lee MG, Kim E. Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. Nature. 2012 Jun 13;486(7402):261-5. [PMID: 22699620]

Question 3: What Caused This to Happen and Can It Be Prevented?

Adams JB, Audhya T, McDonough-Means S, Rubin RA, Quig D, Geis E, Gehn E, Loresto M, Mitchell J, Atwood S, Barnhouse S, Lee W. Toxicological status of children with autism vs. neurotypical children and the association with autism severity. Biol Trace Elem Res. 2013 Feb;151(2):171-80.[PMID: 23192845]

Selected Article
Atladóttir HO, Henriksen TB, Schendel DE, Parner ET. Autism after infection, febrile episodes, and antibiotic use during pregnancy: an exploratory study. Pediatrics. 2012 Dec;130(6):e1447-54. [PMID: 23147969]

Benach JL, Li E, McGovern MM. A microbial association with autism. MBio. 2012 Feb 14;3(1). [PMID: 22334515]

Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorpohic autism. Proc Natl Acad Sci. 2012 May 22;109(21):7974-81. [PMID: 22566635]

Chang SW, Barter JW, Ebitz RB, Watson KK, Platt ML. Inhaled oxytocin amplifies both vicarious reinforcement and self reinforcement in rhesus macaques (Macaca mulatta). Proc Natl Acad Sci. 2012 Jan 17;109(3):959-64.

Coe BP, Girirajan S, Eichler EE. The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet C Semin Med Genet. 2012 May 15;160C(2):118-29. [PMID: 22499536]

Devlin B, Scherer SW. Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev. 2012 Jun;22(3):229-37. [PMID: 22463983]

Frye RE, Sequeira JM, Quadros EV, James SJ, Rossignol DA. Cerebral folate receptor autoantibodies in autism spectrum disorder. Mol Psychiatry. 2013 Mar;18(3):369-81. [PMID: 22230883]

Ginsberg MR, Rubin RA, Falcone T, Ting AH, Natowicz MR. Brain transcriptional and epigenetic associations with autism. PLoS One. 2012;7(9):e44736. [PMID: 22984548]

Goines PE, Ashwood P. Cytokine dysregulation in autism spectrum disorders (ASD): Possible role of the environment. Neurotoxicol Teratol. 2013 Mar-Apr;36:67-81 [PMID: 22918031]

Kern JK, Geier DA, Audhya T, King PG, Sykes LK, Geier MR. Evidence of parallels between mercury intoxication and the brain pathology in autism. Acta Neurobiol Exp (Wars). 2012;72(2):113-53. [PMID: 22810216]

Selected 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. Rate of de novo mutations and the importance of father's age to disease risk. Nature. 2012 Aug 23;488(7412):471-5. [PMID: 22914163]

Krakowiak P, Walker CK, Bremer AA, Baker AS, Ozonoff S, Hansen RL, Hertz-Picciotto I. Maternal metabolic conditions and risk for autism and other neurodevelopmental disorders. Pediatrics. 2012 May;129(5):e1121-8. [PMID: 22492772]

Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, Jian M, Liu G, Greer D, Bhandari A, Wu W, Corominas R, Peoples A, Koren A, Gore A, Kang S, Lin GN, Estabillo J, Gadomski T, Singh B, Zhang K, Akshoomoff N, Corsello C, McCarroll S, Iakoucheva LM, Li Y, Wang J, Sebat J. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell. 2012 Dec 21;151(7):1431-42. [PMID: 23260136]

Ming X, Stein TP, Barnes V, Rhodes N, Guo L. Metabolic perturbance in autism spectrum disorders: A metabolomics study. J Proteome Res. 2012 Dec 7;11(12):5856-62. [PMID: 23106572]

Selected Article
Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Patterns and rates of exonic de novo mutations in autism spectrum disorders.  Nature. 2012 Apr 4;485(7397):242-5. [PMID: 22495311]

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. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012 Dec 21;338(6114):1619-22. [PMID: 23160955]

Selected Article
O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012 Apr 4;485(7397):246-50. [PMID: 22495309]

Rose S, Melnyk S, Pavliv O, Bai S, Nick TG, Frye RE, James SJ.  Evidence of oxidative damage and inflammation associated with low glutathione redox status in the autism brain. Transl Psychiatry. 2012 Jul 10;2:e134. [PMID: 22781167]

Rossignol DA, Frye RE. A review of research trends in physiological abnormalities in autism spectrum disorders: Immune dysregulation, inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures. Mol Psychiatry. 2012 Apr;17(4):389-401. [PMID: 22143005]

Selected Article
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012 Apr 4;485(7397):237-41. [PMID: 22495306]

Sandin S, Hultman CM, Kolevzon A, Gross R, MacCabe JH, Reichenberg A.

Advancing maternal age is associated with increasing risk for autism: A review and meta-analysis. J Am Acad Child Adolesc Psychiatry. 2012 May;51(5):477-486.e1. [PMID: 22525954]

Santini E, Huynh TN, MacAskill AF, Carter AG, Pierre P, Ruggero D, Kaphzan H, Klann E. Exaggerated translation causes synaptic and behavioural aberrations associated with autism. Nature. 2013 Jan 17;493(7432):411-5. [PMID: 23263185]

Schmidt RJ, Tancredi DJ, Ozonoff S, Hansen RL, Hartiala J, Allayee H, Schmidt LC, Tassone F, Hertz-Picciotto I. Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study. American J Clin Nutr. 2012 Jul;96(1):80-9. [PMID: 22648721]

Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012 Apr 27;149(3):525-37. [PMID: 22521361]

van der Ven E, Termorshuizen F, Laan W, Breetvelt EJ, van Os J, Selten JP. An incidence study of diagnosed autism-spectrum disorders among immigrants to the Netherlands. Acta Psychiatr Scand. 2012 Dec 9. [PMID: 23216206]

Volk H, Lurmann F, Penfold B, Hertz-Picciotto I, McConnell R. Traffic related air pollution, particulate matter, and autism. JAMA Psychiatry. 2013;70(1):71-7 [PMID: 23404082]

Waly MI, Hornig M, Trivedi M, Hodgson N, Kini R, Ohta A, Deth R. Prenatal and postnatal epigenetic programming: Implications for GI, immune, and neuronal function in autism.  Autism Res Treat. 2012 Jun;2012:190930 [Epub ahead of print] [PMID: 22934169]

Zhang Y, Xu Q, Liu J, Li SC, Xu X. Risk factors for autistic regression: Results from an ambispective cohort study. J Child Neurol. 2012 Aug;27(8):975-81. [PMID: 22290858]

Question 4: Which Treatments and Interventions Will Help?

Selected Article
Berry-Kravis EM, Hessl D, Rathmell B, Zarevics P, Cherubini M, Walton-Bowen K, Mu Y, Nguyen DV, Gonzalez-Heydrich J, Wang PP, Carpenter RL, Bear MF, Hagerman RJ. Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: A randomized, controlled, phase 2 trial. Sci Transl Med. 2012 Sep 19;4(152):152ra127. [PMID: 22993294]

Selected Article
Dawson G, Jones EJ, Merkle K, Venema K, Lowy R, Faja S, Kamara D, Murias M, Greenson J, Winter J, Smith M, Rogers SJ, Webb SJ. Early behavioral intervention is associated with normalized brain activity in young children with autism. J Am Acad Child Adolesc Psychiatry. 2012 Nov;51(11):1150-9. [PMID: 23101741]

Hollander E, Soorya L, Chaplin W, Anagnostou E, Taylor BP, Ferretti CJ, Wasserman S, Swanson E, Settipani C. A double-blind placebo-controlled trial of fluoxetine for repetitive behaviors and global severity in adultautism spectrum disorders. Am J Psychiatry. 2012 Mar;169(3):292-9. [PMID: 22193531]

Kasari C, Gulsrud A, Freeman S, Paparella T, Hellemann G. Longitudinal follow-up of children with autism receiving targeted interventions on joint attention and play.J Am Acad Child Adolesc Psychiatry. 2012 May;51(5):487-95. [PMID: 22525955]

Kasari C, Rotheram-Fuller E, Locke J, Gulsrud A. Making the connection: Randomized controlled trial of social skills at school for children with autism spectrum disorders. J Child Psychol Psychiatry. 2012 Apr;53(4):431-9. [PMID: 22118062]

Leaf JB, Oppenheim-Leaf ML, Call NA, Sheldon JB, Sherman JA, Taubman M, McEachin J, Dayharsh J, Leaf R. Comparing the teaching interaction procedure to social stories for people with autism. J Appl Behav Anal. 2012 Summer;45(2):281-98. [PMID: 22844137]

Malow B, Adkins KW, McGrew SG, Wang L, Goldman SE, Fawkes D, Burnette C. Melatonin for sleep in children with autism: A controlled trial examining dose, tolerability, and outcomes. J Autism Dev Disord. 2012 Aug;42(8):1729-37. [PMID: 22160300]

Selected Article
Rogers SJ, Estes A, Lord C, Vismara L, Winter J, Fitzpatrick A, Guo M, Dawson G. Effects of a brief Early Start Denver Model (ESDM)-based parent intervention on toddlers at risk for autism spectrum disorders: a randomized controllOed trial. J Am Acad Child Adolesc Psychiatry. 2012 Oct;51(10):1052-65. [PMID: 23021480]

Sokhadze EM, Baruth JM, Sears L, Sokhadze GE, El-Baz AS, Casanova MF. Prefrontal neuromodulation using rTMS improves error monitoring and correction function in autism. Appl Psychophysiol Biofeedback. 2012 Jun;37(2):91-102. [PMID: 22311204]

Sowa M, Meulenbroek R. Effects of physical exercise on autism spectrum disorders: A meta-analysis. Res Autism Spectr Disord.  2012 Jan-Mar;6(1):46–57.

Spek AA, van Ham NC, Nyklí?ek I. Mindfulness-based therapy in adults with an autism spectrum disorder: A randomized controlled trial. Res Dev Disabil. 2013 Jan;34(1):246-253. [PMID: 22964266]

Steiner AM, Gengoux GW, Klin A, Chawarska K. Pivotal response treatment for infants at-risk for autism spectrum disorders: A pilot study. J Autism Dev Disord. 2013 Jan;43(1):91-102. [PMID: 22573001]

Voos AC, Pelphrey KA, Tirrell J, Bolling DZ, Wyk BV, Kaiser MD, McPartland JC, Volkmar FR, Ventola P. Neural mechanisms of improvements in social motivation after pivotal response treatment: Two case studies. J Autism Dev Disord. 2013 Jan; 43(1):1-10.  [PMID: 23104615]

Question 5: Where Can I Turn for Services?

Selected Article
Anderson C, Law JK, Daniels A, Rice C, Mandell DS, Hagopian L, Law PA. Occurrence and family impact of elopement in children with autism spectrum disorders. Pediatrics. 2012 Nov;130(5):870-7. [PMID: 23045563]

Selected Article
Bilder D, Botts EL, Smith KR, Pimentel R, Farley M, Viskochil J, McMahon WM, Block H, Ritvo E, Ritvo RA, Coon H. Excess mortality and causes of death in autism spectrum disorders: A follow up of the 1980s Utah/UCLA Autism Epidemiologic Study. J Autism Dev Disord. 2012 Sep 25. [Epub ahead of print] [PMID: 23008058]

Cidav Z, Marcus SC, Mandell DS. Implications of childhood autism for parental employment and earnings. Pediatrics. 2012 Apr;129(4):617-23. [PMID: 22430453]

Eikeseth S, Klintwall L, Jahr E, Karlsson P. Outcome for children with autism receiving early and intensive behavioral intervention in mainstream preschool and kindergarten settings. Res Autism Spectr Disord. April-June 2012;6(2):829-35.

Flanagan H, Perry A, Freeman NL. Effectiveness of large-scale community-based Intensive Behavioral Intervention: A waitlist comparison study exploring outcomes and predictors. Res Autism Spectr Disord. April-June 2012;6(2):673-82.

Leaf JB, Tsuji KH, Lentell AE, Dale SE, Kassardjian A, Taubman M, McEachin J, Leaf R, Oppenheim-Leaf ML. A comparison of discrete trial teaching implemented in a one-to-one instructional format and in a group instructional format. Behav Intervent. 2012.

Lin SC, Yu SM, Harwood RL. Autism spectrum disorders and developmental disabilities in children from immigrant families in the United States. Pediatrics. 2012 Nov;130 Suppl 2:S191-7. [PMID: 23118251]

Magaña S, Parish SL, Rose RA, Timberlake M, Swaine JG. Racial and ethnic disparities in quality of health care among children with autism and other developmental disabilities. Intellect Dev Disabil. 2012 Aug;50(4):287-99. [PMID: 22861130]

Mayes SD, Gorman AA, Hillwig-Garcia J, Syed E. Suicide ideation and attempts in children with autism. Res Autism Spectr Disord. 2013 Jan;7(1):109-19.

Nahmias AS, Kase C, Mandell DS. Comparing cognitive outcomes among children with autism spectrum disorders receiving community-based early intervention in one of three placements. Autism. 2012 Nov 27. [Epub ahead of print] [PMID: 23188885]

Odom S, Hume K, Boyd B, Stabel A. Moving beyond the intensive behavior treatment versus eclecticdichotomy: Evidence-based and individualized programs for learners with ASD.  Behav Modif. 2012 May;36(3):270-297. [PMID: 22645398] 

Schieve LA, Gonzalez V, Boulet SL, Visser SN, Rice CE, Braun KV, Boyle CA. Concurrent medical conditions and health care use and needs among children with learning and behavioral developmental disabilities, National Health Interview Survey, 2006–2010. Res Dev Disabil. 2012 Mar-Apr;33(2):467-76. [PMID: 22119694]

Sterzing PR, Shattuck PT, Narendorf SC, Wagner M, Cooper BP. Bullying involvement and autism spectrum disorders: Prevalence and correlates of bullying involvement among adolescents with an autism spectrum disorder. Arch Pediatr Adolesc Med. 2012 Nov;166(11):1058-64. [PMID: 22945284]

Question 6: What Does the Future Hold, Particularly for Adults?

Selected Article
Cimera RE, Wehman P, West M, Burgess S. Do sheltered workshops enhance employment outcomes for adults with autism spectrum disorder? Autism. 2012 Jan;16(1):87-94. [PMID: 21610189]

Lerner MD, Haque OS, Northrup EC, Lawer L, Bursztajn HJ. Emerging perspectives on adolescents and young adults with high-functioning autism spectrum disorders, violence, and criminal law. J Am Acad Psychiatry Law. 2012;40(2):177-90. [PMID: 22635288]

Selected Article
Shattuck PT, Narendorf SC, Cooper B, Sterzing PR, Wagner M, Taylor JL. Postsecondary education and employment among youth with an autism spectrum disorder. Pediatrics. 2012 Jun;129(6):1042-9. [PMID: 22585766]

Selected Article
Smith LE, Maenner MJ, Seltzer MM. Developmental trajectories in adolescents and adults with autism: The case of daily living skills. J Am Acad Child Adolesc Psychiatry. 2012 Jun;51(6):622-31. [PMID: 22632621]

Selected Article
Taylor JL, McPheeters ML, Sathe NA, Dove D, Veenstra-Vanderweele J, Warren Z. A systematic review of vocational interventions for young adults with autism spectrum disorders. Pediatrics. 2012 Sep;130(3):531-8. [PMID: 22926170]

Question 7: What Other Infrastructure and Surveillance Needs Must Be Met?

Selected Article
Centers for Disease Control and Prevention (CDC); Autism and Developmental Disabilities Monitoring Network - Surveillance Year 2008 Principal Investigators. Prevalence of Autism Spectrum Disorders - Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008. MMWR Surveill Summ. 2012 Mar; 61(3):1-19. [PMID: 22456193]

Keyes KM, Susser E, Cheslack-Postava K, Fountain C, Liu K, Bearman PS. Cohort effects explain the increase in autism diagnosis among children born from 1992 to 2003 in California. Int J Epidemiol. 2012 Apr;41(2):495-503. [PMID: 22253308]

Miller JS, Bilder D, Farley M, Coon H, Pinborough-Zimmerman J, Jenson W, Rice CE, Fombonne E, Pingree CB, Ritvo E, Ritvo RA, McMahon WM. Autism spectrum disorder reclassified: A second look at the 1980s Utah/UCLA Autism Epidemiologic Study. J Autism Dev Disord. 2013 Jan;43(1):200-210 [PMID: 22696195]

References

¹ Randomized, controlled trial of an intervention for toddlers with autism: The Early Start Denver Model. Dawson G, Rogers S, Munson J, Smith M, Winter J, Greenson J, Donaldson A, Varley J. Pediatrics. 2010 Jan;125(1):e17-23.

About the IACC

The Interagency Autism Coordinating Committee (IACC) is a Federal advisory committee charged with coordinating all activities concerning autism spectrum disorder (ASD) within the U.S. Department of Health and Human Services (HHS) and providing advice to the Secretary of HHS on issues related to autism. It was established by Congress under the Children's Health Act of 2000, reconstituted under the Combating Autism Act (CAA) of 2006, and renewed under the Combating Autism Reauthorization Act of 2011.

Membership of the Committee includes a wide array of Federal agencies involved in ASD research and services, as well as public stakeholders, including self-advocates, parents of children and adults with ASD, advocates, service providers, and researchers, who represent a variety of perspectives from within the autism community. This makeup of the IACC membership is designed to ensure that the Committee is equipped to address the wide range of issues and challenges faced by families and individuals affected by autism.

Under the CAA, the IACC is required to (1) develop and annually update a strategic plan for ASD research, (2) develop and annually update a summary of advances in ASD research, and (3) monitor Federal activities related to ASD.

Through these and other activities, the IACC provides guidance to HHS and partners with the broader autism community to accelerate research and enhance services with the goal of profoundly improving the lives of people with ASD and their families.

IACC Member Roster

Chair

Federal Members

Public Members

Office of Autism Research Coordination (OARC) Staff List

Cover Design
NIH Medical Arts Branch

Copyright Information
All material appearing in this report is in the public domain and may be reproduced or copied. A suggested citation follows.

Suggested Citation
Interagency Autism Coordinating Committee (IACC). 2013 IACC Summary of Advances in Autism Spectrum Disorder Research. April 2014. Retrieved from the U.S. Department of Health and Human Services Interagency Autism Coordinating Committee website: http://iacc.hhs.gov/publications/summary-of-advances/2013/.