Citation List – Articles Selected for the 2014 Summary of Advances

Question 1: When Should I Be Concerned?

Daniels AM, Halladay AK, Shih A, Elder LM, Dawson G. Approaches to enhancing the early detection of autism spectrum disorders: a systematic review of the literature. J Am Acad Child Adolesc Psychiatry. 2014 Feb;53(2):141-52. [PMID: 24472250]

Robins DL, Casagrande K, Barton M, Chen CM, Dumont-Mathieu T, Fein D. Validation of the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F). Pediatrics. 2014 Jan;133(1):37-45. [PMID: 24366990]

Question 2: How Can I Understand What Is Happening?

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma’ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13;515(7526):209-15. [PMID: 25363760]

Frazier TW, Georgiades S, Bishop SL, Hardan AY. Behavioral and cognitive characteristics of females and males with autism in the Simons Simplex Collection. J Am Acad Child Adolesc Psychiatry. 2014 Mar;53(3):329-40.e1-3. [PMID: 24565360]

Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE. A higher mutational burden in females supports a “female protective model" in neurodevelopmental disorders. Am J Hum Genet. 2014 Mar 6;94(3):415-25. [PMID: 24581740]

McElhanon BO, McCracken C, Karpen S, Sharp WG. Gastrointestinal symptoms in autism spectrum disorder: a meta-analysis. Pediatrics. 2014 May;133(5):872-83. [PMID: 24777214]

Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet. 2014 May 1;94(5):677-94. [PMID: 24768552]

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

Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, Mahajan M, Manaa D, Pawitan Y, Reichert J, Ripke S, Sandin S, Sklar P, Svantesson O, Reichenberg A, Hultman CM, Devlin B, Roeder K, Buxbaum JD. Most genetic risk for autism resides with common variation. Nat Genet. 2014 Aug;46(8):881-5. [PMID: 25038753]

Harrington RA, Lee LC, Crum RM, Zimmerman AW, Hertz-Picciotto I. Prenatal SSRI use and offspring with autism spectrum disorder or developmental delay. Pediatrics. 2014 May;133(5):e1241-8. [PMID: 24733881]

Iossifov I, O’Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014 Nov 13;515(7526):216-21. [PMID: 25363768]

Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A. The familial risk of autism. JAMA. 2014 May 7;311(17):1770-7. [PMID: 24794370]

Taylor LE, Swerdfeger AL, Eslick GD. Vaccines are not associated with autism: an evidence-based meta-analysis of case-control and cohort studies. Vaccine. 2014 Jun 17;32(29):3623-9. [PMID: 24814559]

Question 4: Which Treatments and Interventions Will Help?

Kasari C, Lawton K, Shih W, Barker TV, Landa R, Lord C, Orlich F, King B, Wetherby A, Senturk D. Caregivermediated intervention for low-resourced preschoolers with autism: an RCT. Pediatrics. 2014 Jul;134(1):e72-9. [PMID: 24958585]

Wetherby AM, Guthrie W, Woods J, Schatschneider C, Holland RD, Morgan L, Lord C. Parent-implemented social intervention for toddlers with autism: an RCT. Pediatrics. 2014 Dec;134(6):1084-93. [PMID: 25367544]

Question 5: Where Can I Turn for Services?

Buescher AV, Cidav Z, Knapp M, Mandell DS. Costs of autism spectrum disorders in the United Kingdom and the United States. JAMA Pediatr. 2014 Aug;168(8):721-8. [PMID: 24911948]

Lavelle TA, Weinstein MC, Newhouse JP, Munir K, Kuhlthau KA, Prosser LA. Economic burden of childhood autism spectrum disorders. Pediatrics. 2014 Mar;133(3):e520-9. [PMID: 24515505]

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

Taylor JL, Mailick MR. A longitudinal examination of 10-year change in vocational and educational activities for adults with autism spectrum disorders. Dev Psychol. 2014 Mar;50(3):699-708. [PMID: 24001150]

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

Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators; Centers for Disease Control and Prevention (CDC). Prevalence of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill Summ. 2014 Mar 28;63(2):1-21. [PMID: 24670961]

Di Martino A, Yan CG, Li Q, Denio E, Castellanos FX, Alaerts K, Anderson JS, Assaf M, Bookheimer SY, Dapretto M, Deen B, Delmonte S, Dinstein I, Ertl-Wagner B, Fair DA, Gallagher L, Kennedy DP, Keown CL, Keysers C, Lainhart JE, Lord C, Luna B, Menon V, Minshew NJ, Monk CS, Mueller S, Müller RA, Nebel MB, Nigg JT, O’Hearn K, Pelphrey KA, Peltier SJ, Rudie JD, Sunaert S, Thioux M, Tyszka JM, Uddin LQ, Verhoeven JS, Wenderoth N, Wiggins JL, Mostofsky SH, Milham MP. The autism brain imaging data exchange: towards a large-scale evaluation of the intrinsic brain architecture in autism. Mol Psychiatry. 2014 Jun;19(6):659-67. [PMID: 23774715]

Maenner MJ, Rice CE, Arneson CL, Cunniff C, Schieve LA, Carpenter LA, Van Naarden Braun K, Kirby RS, Bakian AV, Durkin MS. Potential impact of DSM-5 criteria on autism spectrum disorder prevalence estimates. JAMA Psychiatry. 2014 Mar;71(3):292-300. [PMID: 24452504]

Full Listing of Nominated Articles (Selected Articles Appear in *Bold)

Question 1: When Should I Be Concerned?

*Daniels AM, Halladay AK, Shih A, Elder LM, Dawson G. Approaches to enhancing the early detection of autism spectrum disorders: a systematic review of the literature. J Am Acad Child Adolesc Psychiatry. 2014 Feb;53(2):141-52. [PMID: 24472250]

Herlihy LE, Brooks B, Dumont-Mathieu T, Barton ML, Fein D, Chen CM, Robins DL. Standardized screening facilitates timely diagnosis of autism spectrum disorders in a diverse sample of low-risk toddlers. J Dev Behav Pediatr. 2014 Feb-Mar;35(2):85-92. [PMID: 24509053]

*Robins DL, Casagrande K, Barton M, Chen CM, Dumont-Mathieu T, Fein D. Validation of the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F). Pediatrics. 2014 Jan;133(1):37-45. [PMID: 24366990]

Nader AM, Courchesne V, Dawson M, Soulières I. Does WISC-IV underestimate the intelligence of autistic children? J Autism Dev Disord. 2014 Oct 12. [Epub ahead of print] [PMID: 25308198]

Ozonoff S, Young GS, Belding A, Hill M, Hill A, Hutman T, Johnson S, Miller M, Rogers SJ, Schwichtenberg AJ, Steinfeld M, Iosif AM. The broader autism phenotype in infancy: when does it emerge? J Am Acad Child Adolesc Psychiatry. 2014 Apr;53(4):398-407. [PMID: 24655649]

Pruett JR Jr. BAP: not-quite-autism in infants. J Am Acad Child Adolesc Psychiatry. 2014 Apr;53(4):392-4. [PMID: 24655647]

Samango-Sprouse CA, Stapleton EJ, Aliabadi F, Graw R, Vickers R, Haskell K, Sadeghin T, Jameson R, Parmele CL, Gropman AL. Identification of infants at risk for autism spectrum disorder and developmental language delay prior to 12 months. Autism. 2015 Apr;19(3):327-37. [PMID: 24550549]

Shic F, Macari S, Chawarska K. Speech disturbs face scanning in 6-month-old infants who develop autism spectrum disorder. Biol Psychiatry. 2014 Feb 1;75(3):231-7. [PMID: 23954107]

Zwaigenbaum L, Young GS, Stone WL, Dobkins K, Ozonoff S, Brian J, Bryson SE, Carver LJ, Hutman T, Iverson JM, Landa RJ, Messinger D. Early head growth in infants at risk of autism: a baby siblings research consortium study. J Am Acad Child Adolesc Psychiatry. 2014 Oct;53(10):1053-62. [PMID: 25245349]

Question 2: How Can I Understand What Is Happening?

Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LE, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O’Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BB, Katsanis N, Eichler EE. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 2014 Jul 17;158(2):263-76. [PMID: 24998929]

*De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma’ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte- Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13;515(7526):209-15. [PMID: 25363760]

Fang WQ, Chen WW, Jiang L, Liu K, Yung WH, Fu AK, Ip NY. Overproduction of upper-layer neurons in the neocortex leads to autism-like features in mice. Cell Rep. 2014 Dec 11;9(5):1635-43. [PMID: 25466248]

*Frazier TW, Georgiades S, Bishop SL, Hardan AY. Behavioral and cognitive characteristics of females and males with autism in the Simons Simplex Collection. J Am Acad Child Adolesc Psychiatry. 2014 Mar;53(3):329-40.e1-3. [PMID: 24565360]

Gunaydin LA, Grosenick L, Finkelstein JC, Kauvar IV, Fenno LE, Adhikari A, Lammel S, Mirzabekov JJ, Airan RD, Zalocusky KA, Tye KM, Anikeeva P, Malenka RC, Deisseroth K. Natural neural projection dynamics underlying social behavior. Cell. 2014 Jun 19;157(7):1535-51. [PMID: 24949967]

Head AM, McGillivray JA, Stokes MA. Gender differences in emotionality and sociability in children with autism spectrum disorders. Mol Autism. 2014 Feb 28;5(1):19. [PMID: 24576331]

*Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE. A higher mutational burden in females supports a “female protective model" in neurodevelopmental disorders. Am J Hum Genet. 2014 Mar 6;94(3):415-25. [PMID: 24581740]

Jeste SS, Geschwind DH. Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nat Rev Neurol. 2014 Feb;10(2):74-81. [PMID: 24468882]

Koldewyn K, Yendiki A, Weigelt S, Gweon H, Julian J, Richardson H, Malloy C, Saxe R, Fischl B, Kanwisher N. Differences in the right inferior longitudinal fasciculus but no general disruption of white matter tracts in children with autism spectrum disorder. Proc Natl Acad Sci U S A. 2014 Feb 4;111(5):1981-6. [PMID: 24449864]

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet. 2014 May; 23(10):2752-68. [PMID: 24381304]

Mazurek MO, Keefer A, Shui A, Vasa RA. One-year course and predictors of abdominal pain in children with autism spectrum disorders: the role of anxiety and sensory over-responsivity. Res Autism Spectr Disord. 2014 Nov;8(11):1508-1515. [Available at: http://www.sciencedirect.com/science/article/pii/S1750946714001780]

*McElhanon BO, McCracken C, Karpen S, Sharp WG. Gastrointestinal symptoms in autism spectrum disorder: a meta-analysis. Pediatrics. 2014 May;133(5):872-83. [PMID: 24777214]

Orekhova EV, Elsabbagh M, Jones EJ, Dawson G, Charman T, Johnson MH; BASIS Team. EEG hyper-connectivity in high-risk infants is associated with later autism. J Neurodev Disord. 2014;6(1):40. [PMID: 25400705]

Parker KJ, Garner JP, Libove RA, Hyde SA, Hornbeak KB, Carson DS, Liao CP, Phillips JM, Hallmayer JF, Hardan AY. Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder. Proc Natl Acad Sci U S A. 2014 Aug 19;111(33):12258-63. [PMID: 25092315]

*Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet. 2014 May 1;94(5):677-94. [PMID: 24768552]

Rao PA, Landa RJ. Association between severity of behavioral phenotype and comorbid attention deficit hyperactivity disorder symptoms in children with autism spectrum disorders. Autism. 2014 Apr;18(3):272-80. [PMID: 23739542]

Rothwell PE, Fuccillo MV, Maxeiner S, Hayton SJ, Gokce O, Lim BK, Fowler SC, Malenka RC, Südhof TC. Autismassociated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors. Cell. 2014 Jul 3;158(1):198-212. [PMID: 24995986]

Stoner R, Chow ML, Boyle MP, Sunkin SM, Mouton PR, Roy S, Wynshaw-Boris A, Colamarino SA, Lein ES, Courchesne E. Patches of disorganization in the neocortex of children with autism. N Engl J Med. 2014 Mar 27;370(13):1209-19. [PMID: 24670167]

Tang G, Gudsnuk K, Kuo SH, Cotrina ML, Rosoklija G, Sosunov A, Sonders MS, Kanter E, Castagna C, Yamamoto A, Yue Z, Arancio O, Peterson BS, Champagne F, Dwork AJ, Goldman J, Sulzer D. Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits. Neuron. 2014 Sep 3;83(5):1131-43. [PMID: 25155956]

Tyzio R, Nardou R, Ferrari DC, Tsintsadze T, Shahrokhi A, Eftekhari S, Khalilov I, Tsintsadze V, Brouchoud C, Chazal G, Lemonnier E, Lozovaya N, Burnashev N, Ben-Ari Y. Oxytocin-mediated GABA inhibition during delivery attenuates autism pathogenesis in rodent offspring. Science. 2014 Feb 7;343(6171):675-9. [PMID: 24503856]

Uddin LQ, Supekar K, Lynch CJ, Cheng KM, Odriozola P, Barth ME, Phillips J, Feinstein C, Abrams DA, Menon V. Brain state differentiation and behavioral inflexibility in autism. Cereb Cortex. 2015 Dec;25(12):4740-7. [PMID: 25073720]

Uddin M, Tammimies K, Pellecchia G, Alipanahi B, Hu P, Wang Z, Pinto D, Lau L, Nalpathamkalam T, Marshall CR, Blencowe BJ, Frey BJ, Merico D, Yuen RK, Scherer SW. Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. Nat Genet. 2014 Jul;46(7):742-7. [PMID: 24859339]

Wolff JJ, Botteron KN, Dager SR, Elison JT, Estes AM, Gu H, Hazlett HC, Pandey J, Paterson SJ, Schultz RT, Zwaigenbaum L, Piven J; IBIS Network. Longitudinal patterns of repetitive behavior in toddlers with autism. J Child Psychol Psychiatry. 2014 Aug;55(8):945-53. [PMID: 24552513]

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

Becerra TA, von Ehrenstein OS, Heck JE, Olsen J, Arah OA, Jeste SS, Rodriguez M, Ritz B. Autism spectrum disorders and race, ethnicity, and nativity: a population-based study. Pediatrics. 2014 Jul;134(1):e63-71. [PMID: 24958588]

Fromer M, Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S, Gormley P, Georgieva L, Rees E, Palta P, Ruderfer DM, Carrera N, Humphreys I, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Grant SG, Hannon E, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Kirov G, Palotie A, McCarroll SA, Holmans P, Sklar P, Owen MJ, Purcell SM, O’Donovan MC. De novo mutations in schizophrenia implicate synaptic networks. Nature. 2014 Feb 13;506(7487):179-84. [PMID: 24463507]

*Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, Mahajan M, Manaa D, Pawitan Y, Reichert J, Ripke S, Sandin S, Sklar P, Svantesson O, Reichenberg A, Hultman CM, Devlin B, Roeder K, Buxbaum JD. Most genetic risk for autism resides with common variation. Nat Genet. 2014 Aug;46(8):881-5. [PMID: 25038753]

*Harrington RA, Lee LC, Crum RM, Zimmerman AW, Hertz-Picciotto I. Prenatal SSRI use and offspring with autism spectrum disorder or developmental delay. Pediatrics. 2014 May;133(5):e1241-8. [PMID: 24733881]

*Iossifov I, O’Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014 Nov 13;515(7526):216-21. [PMID: 25363768]

Nevison CD. A comparison of temporal trends in United States autism prevalence to trends in suspected environmental factors. Environ Health. 2014 Sep 5;13:73. [PMID: 25189402]

O’Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun. 2014 Nov 24;5:5595. [PMID: 25418537]

Purcell SM, Moran JL, Fromer M, Ruderfer D, Solovieff N, Roussos P, O’Dushlaine C, Chambert K, Bergen SE, Kähler A, Duncan L, Stahl E, Genovese G, Fernández E, Collins MO, Komiyama NH, Choudhary JS, Magnusson PK, Banks E, Shakir K, Garimella K, Fennell T, DePristo M, Grant SG, Haggarty SJ, Gabriel S, Scolnick EM, Lander ES, Hultman CM, Sullivan PF, McCarroll SA, Sklar P. A polygenic burden of rare disruptive mutations in schizophrenia. Nature. 2014 Feb 13;506(7487):185-90. [PMID: 24463508]

Robinson EB, Samocha KE, Kosmicki JA, McGrath L, Neale BM, Perlis RH, Daly MJ. Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):15161-5. [PMID: 25288738]

Ronemus M, Iossifov I, Levy D, Wigler M. The role of de novo mutations in the genetics of autism spectrum disorders. Nat Rev Genet. 2014 Feb;15(2):133-41. [PMID: 24430941]

Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, Palotie A, Boerwinkle E, Buxbaum JD, Cook EH Jr, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, Daly MJ. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 Sep;46(9):944-50. [PMID: 25086666]

*Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A. The familial risk of autism. JAMA. 2014 May 7;311(17):1770-7. [PMID: 24794370]

Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014 Jul 24;511(7510):421-7. [PMID: 25056061]

Shelton JF, Geraghty EM, Tancredi DJ, Delwiche LD, Schmidt RJ, Ritz B, Hansen RL, Hertz-Picciotto I. Neurodevelopmental disorders and prenatal residential proximity to agricultural pesticides: the CHARGE study. Environ Health Perspect. 2014 Oct;122(10):1103-9. [PMID: 24954055]

Suren P, Gunnes N, Roth C, Bresnahan M, Hornig M, Hirtz D, Lie K, Lipkin WI, Magnus P, Reichborn-Kjennerud T, Schjolberg S, Susser E, Anne-Siri O, Davey Smith G, Stoltenberg C. Parental obesity and risk of autism spectrum disorder. Pediatrics. 2014 May;133(5):e1128-38. [PMID: 24709932]

*Taylor LE, Swerdfeger AL, Eslick GD. Vaccines are not associated with autism: an evidence-based meta-analysis of case-control and cohort studies. Vaccine. 2014 Jun 17;32(29):3623-9. [PMID: 24814559]

von Ehrenstein OS, Aralis H, Cockburn M, Ritz B. In utero exposure to toxic air pollutants and risk of childhood autism. Epidemiology. 2014 Nov;25(6):851-8. [PMID: 25051312]

Question 4: Which Treatments and Interventions Will Help?

Ganz JB, Rispoli MJ, Mason RA, Hong ER. Moderation of effects of AAC based on setting and types of aided AAC on outcome variables: an aggregate study of single-case research with individuals with ASD. Dev Neurorehabil. 2014 Jun;17(3):184-92. [PMID: 24102440]

Grynszpan O, Weiss PL, Perez-Diaz F, Gal E. Innovative technology-based interventions for autism spectrum disorders: a meta-analysis. Autism. 2014 May;18(4):346-61. [PMID: 24092843]

Kaale A, Fagerland MW, Martinsen EW, Smith L. Preschool-based social communication treatment for children with autism: 12-month follow-up of a randomized trial. J Am Acad Child Adolesc Psychiatry. 2014 Feb;53(2):188-98. [PMID: 24472253]

Kasari C, Kaiser A, Goods K, Nietfeld J, Mathy P, Landa R, Murphy S, Almirall D. Communication interventions for minimally verbal children with autism: a sequential multiple assignment randomized trial. J Am Acad Child Adolesc Psychiatry. 2014 Jun;53(6):635-46. [PMID: 24839882]

*Kasari C, Lawton K, Shih W, Barker TV, Landa R, Lord C, Orlich F, King B, Wetherby A, Senturk D. Caregivermediated intervention for low-resourced preschoolers with autism: an RCT. Pediatrics. 2014 Jul;134(1):e72-9. [PMID: 24958585]

Mohammadzaheri F, Koegel LK, Rezaei M, Bakhshi E. A randomized clinical trial comparison between pivotal response treatment (PRT) and adult-driven applied behavior analysis (ABA) intervention on disruptive behaviors in public school children with autism. J Autism Dev Disord. 2015 Sep;45(9):2899–907. [PMID: 25953148]

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. 2014 Apr;18(3):311-20. [PMID: 23188885]

Naviaux JC, Schuchbauer MA, Li K, Wang L, Risbrough VB, Powell SB, Naviaux RK. Reversal of autism-like behaviors and metabolism in adult mice with single-dose antipurinergic therapy. Transl Psychiatry. 2014 Jun 17;4:e400. [PMID: 24937094]

Odom SL, Thompson JL, Hedges S, Boyd BA, Dykstra JR, Duda MA, Szidon KL, Smith LE, Bord A. Technologyaided interventions and instruction for adolescents with autism spectrum disorder. J Autism Dev Disord. 2015 Dec;45(12):3805-19. [PMID: 25468409]

Orinstein AJ, Helt M, Troyb E, Tyson KE, Barton ML, Eigsti IM, Naigles L, Fein DA. Intervention for optimal outcome in children and adolescents with a history of autism. J Dev Behav Pediatr. 2014 May;35(4):247-56. [PMID: 24799263]

Rogers SJ, Vismara L, Wagner AL, McCormick C, Young G, Ozonoff S. Autism treatment in the first year of life: a pilot study of infant start, a parent-implemented intervention for symptomatic infants. J Autism Dev Disord. 2014 Dec;44(12):2981-95. [PMID: 25212413]

Singh K, Connors SL, Macklin EA, Smith KD, Fahey JW, Talalay P, Zimmerman AW. Sulforaphane treatment of autism spectrum disorder (ASD). Proc Natl Acad Sci U S A. 2014 Oct 28;111(43):15550-5. [PMID: 25313065]

Solomon R, Van Egeren LA, Mahoney G, Quon Huber MS, Zimmerman P. PLAY Project Home Consultation intervention program for young children with autism spectrum disorders: a randomized controlled trial. J Dev Behav Pediatr. 2014 Oct;35(8):475-85. [PMID: 25264862]

*Wetherby AM, Guthrie W, Woods J, Schatschneider C, Holland RD, Morgan L, Lord C. Parent-implemented social intervention for toddlers with autism: an RCT. Pediatrics. 2014 Dec;134(6):1084-93. [PMID: 25367544]

Question 5: Where Can I Turn for Services?

Brock M, Huber H, Carter E, Juarez A, Warren Z. Statewide assessment of professional development needs related to educating students with autism spectrum disorder. Focus Autism Other Dev Disabl. 2014 Jun;29(2):67-79. [Available at: http://foa.sagepub.com/content/29/2/67]

*Buescher AV, Cidav Z, Knapp M, Mandell DS. Costs of autism spectrum disorders in the United Kingdom and the United States. JAMA Pediatr. 2014 Aug;168(8):721-8. [PMID: 24911948]

Cidav Z, Marcus SC, Mandell DS. Home- and community-based waivers for children with autism: effects on service use and costs. Intellect Dev Disabil. 2014 Aug;52(4):239-48. [PMID: 25061768]

Cohen-Silver JH, Muskat B, Ratnapalan S. Autism in the emergency department. Clin Pediatr (Phila). 2014 Oct;53(12):1134-8. [PMID: 25031320]

Curtin C, Jojic, M, Bandini LG. Obesity in children with autism spectrum disorders. Harv Rev of Psychiatry. 2014 Mar-Apr;22(2):93-103. [PMID: 24614764]

*Lavelle TA, Weinstein MC, Newhouse JP, Munir K, Kuhlthau KA, Prosser LA. Economic burden of childhood autism spectrum disorders. Pediatrics. 2014 Mar;133(3):e520-9. [PMID: 24515505]

Must A, Curtin C, Hubbard K, Sikich L, Beford J, Bandini L. Obesity prevention for children with developmental disabilities. Curr Obes Rep. 2014 Jun;3(2):156-70. [PMID: 25530916]

Vohra R, Madhavan S, Sambamoorthi U, St Peter C. Access to services, quality of care, and family impact for children with autism, other developmental disabilities, and other mental health conditions. Autism. 2014 Oct;18(7):815-26. [PMID: 24353274]

Zuckerman KE, Lindly OJ, Bethell CD, Kuhlthau K. Family impacts among children with autism spectrum disorder: the role of health care quality. Acad Pediatr. 2014 Jul-Aug;14(4):398-407. [PMID: 24976352]

Zuckerman KE, Sinche B, Mejia A, Cobian M, Becker T, Nicolaidis C. Latino parents’ perspectives on barriers to autism diagnosis. Acad Pediatr. 2014 May-Jun;14(3):301-8. [PMID: 24767783]

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

Anderson DK, Liang JW, Lord C. Predicting young adult outcome among more and less cognitively able individuals with autism spectrum disorders. J Child Psychol Psychiatry. 2014 May;55(5):485-94. [PMID: 24313878]

Anderson KA, Shattuck PT, Cooper BP, Roux AM, Wagner M. Prevalence and correlates of postsecondary residential status among young adults with an autism spectrum disorder. Autism. 2014 Jul;18(5):562-70. [PMID: 23996904]

Daly BP, Nicholls EG, Patrick KE, Brinckman DD, Schultheis MT. Driving behaviors in adults with autism spectrum disorders. J Autism Dev Disord. 2014 Dec;44(12):3119-28. [PMID: 24925544]

Eack SM, Mazefsky CA, Minshew NJ. Misinterpretation of facial expressions of emotion in verbal adults with autism spectrum disorder. Autism. 2015 Apr;19(3):308-15. [PMID: 24535689]

Magee CA, Gordon R, Caputi P. Distinct developmental trends in sleep duration during early childhood. Pediatrics. 2014 Jun;133(6):e1561-7. [PMID: 24843067]

Nicolaidis C, Kripke CC, Raymaker D. Primary care for adults on the autism spectrum. Med Clin North Am. 2014 Sep;98(5):1169-91. [PMID: 25134878]

*Taylor JL, Mailick MR. A longitudinal examination of 10-year change in vocational and educational activities for adults with autism spectrum disorders. Dev Psychol. 2014 Mar;50(3):699-708. [PMID: 24001150]

van Heijst BF, Geurts HM. Quality of life in autism across the lifespan: a meta-analysis. Autism. 2015 Feb;19(2):158-67. [PMID: 24443331]

Wehman P, Chan F, Ditchman N, Kang HJ. Effect of supported employment on vocational rehabilitation outcomes of transition-age youth with intellectual and developmental disabilities: a case control study. Intellect Dev Disabil. 2014 Aug;52(4):296-310. [PMID: 25061773]

Wehman PH, Schall CM, McDonough J, Kregel J, Brooke V, Molinelli A, Ham W, Graham CW, Erin Riehle J, Collins HT, Thiss W. Competitive employment for youth with autism spectrum disorders: early results from a randomized clinical trial. J Autism Dev Disord. 2014 Mar;44(3):487-500. [PMID: 23893098]

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

*Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators; Centers for Disease Control and Prevention (CDC). Prevalence of autism spectrum disorder among children aged 8 years— autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill Summ. 2014 Mar 28;63(2):1-21. [PMID: 24670961]

*Di Martino A, Yan CG, Li Q, Denio E, Castellanos FX, Alaerts K, Anderson JS, Assaf M, Bookheimer SY, Dapretto M, Deen B, Delmonte S, Dinstein I, Ertl-Wagner B, Fair DA, Gallagher L, Kennedy DP, Keown CL, Keysers C, Lainhart JE, Lord C, Luna B, Menon V, Minshew NJ, Monk CS, Mueller S, Müller RA, Nebel MB, Nigg JT, O’Hearn K, Pelphrey KA, Peltier SJ, Rudie JD, Sunaert S, Thioux M, Tyszka JM, Uddin LQ, Verhoeven JS, Wenderoth N, Wiggins JL, Mostofsky SH, Milham MP. The autism brain imaging data exchange: towards a large-scale evaluation of the intrinsic brain architecture in autism. Mol Psychiatry. 2014 Jun;19(6):659-67. [PMID: 23774715]

*Maenner MJ, Rice CE, Arneson CL, Cunniff C, Schieve LA, Carpenter LA, Van Naarden Braun K, Kirby RS, Bakian AV, Durkin MS. Potential impact of DSM-5 criteria on autism spectrum disorder prevalence estimates. JAMA Psychiatry. 2014 Mar;71(3):292-300. [PMID: 24452504]

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 (CARA) 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). 2014 IACC Summary of Advances in Autism Spectrum Disorder Research. April 2016. Retrieved from the U.S. Department of Health and Human Services Interagency Autism Coordinating Committee website: http://iacc.hhs.gov/publications/summary-of-advances/2014/