APA. Diagnostic and Statistical Manual of Mental Disorders. Fifth Edition. Washington, DC: American Psychiatric Association, 2013.
Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 2008, 9: 341–355.
Amaral DG, Schumann CM, Nordahl CW. Neuroanatomy of autism. Trends Neurosci 2008, 31: 137–145.
Geschwind DH. Advances in autism. Annu Rev Med 2009, 60: 367–380.
Simonoff E, Pickles A, Charman T, Chandler S, Loucas T, Baird G. Psychiatric disorders in children with autism spectrum disorders: prevalence, comorbidity, and associated factors in a population-derived sample. J Am Acad Child Adolesc Psychiatry 2008, 47: 921–929.
Mannion A, Leader G. An investigation of comorbid psychological disorders, sleep problems, gastrointestinal symptoms and epilepsy in children and adolescents with autism spectrum disorder: A two year follow-up. Res Autism Spectr Disord 2016, 22: 20–33.
Matson JL, Shoemaker M. Intellectual disability and its relationship to autism spectrum disorders. Res Dev Disabil 2009, 30: 1107–1114.
Bauman ML. Medical comorbidities in autism: Challenges to diagnosis and treatment. Neurotherapeutics 2013, 7: 320–327.
Mannion A, Leader G. Comorbidity in autism spectrum disorder: A literature review. Res Autism Spectr Disord 2013b, 7: 1595–1616.
Zerbo O, Leong A, Barcellos L, Bernal P, Fireman B, Croen LA. Immune mediated conditions in autism spectrum disorders. Brain Behav Immun 2015, 46: 232–236.
Buescher AV, Cidav Z, Knapp M, Mandell DS. Costs of autism spectrum disorders in the United Kingdom and the United States. JAMA Pediatrics 2014, 168: 721–728.
Ganz ML. The lifetime distribution of the incremental societal costs of autism. Arch Pediatr Adolesc Med 2007, 161: 343–349.
Leigh JP, Du J. Brief report: Forecasting the economic burden of autism in 2015 and 2025 in the United States. J Autism Dev Disord 2015, 45: 4135–4139.
Kanner L. Autistic disturbances of affective contact. Nervous Child 1943, 2: 217–250.
Asperger H. Die Autistischen Psychopathen im Kindesalter. Arch Psychiatr Nervenkr 1944, 117: 76–136. Trans. U. FRITH in U. FRITH (ed.). Autism and Asperger Syndrome. Cambridge: Cambridge University Press, 1991: 37–92.
Silberman S. NeuroTribes: The Legacy of Autism and How to Think Smarter About People Who Think Differently. Allen & Unwin, 2015.
Wing L. Asperger’s syndrome: a clinical account. Psychol Med 1981, 11: 115–129.
APA. Diagnostic and Statistical Manual of Mental Disorders. Third Edition. Washington, DC: American Psychiatric Association, 1980.
Volkmar FR, Cohen DJ, Paul R. An evaluation of DSM-III criteria for infantile autism. J Am Acad Child Psychiatry 1986, 25: 190–197.
Volkmar F, Bregman J, Cohen D, Cicchetti D. DSM-III and DSM-III-R diagnoses of autism. Am J Psychiatry 1988, 145: 1404–1408.
APA. Diagnostic and Statistical Manual of Mental Disorders. Fourth Edition. Washington, DC: American Psychiatric Association, 1994.
Volkmar FR, Reichow B. Autism in DSM-5: progress and challenges. Mol Autism 2013, 4: 13.
Kim YS, Fombonne E, Koh YJ, Kim SJ, Cheon KA, Leventhal BL. A comparison of DSM-IV pervasive developmental disorder and DSM-5 autism spectrum disorder prevalence in an epidemiologic sample. J Am Acad Child Adolesc Psychiatry 2014, 53: 500–508.
Lord C, Petkova E, Hus V, Gan W, Lu F, Martin D, et al. A multisite study of the clinical diagnosis of different autism spectrum disorders. Arch Gen Psychiatry 2012, 69: 306–313.
Bernier R, Mao A, Yen J. Psychopathology, families, and culture: autism. Child Adolesc Psychiatr Clin N Am 2010, 19: 855–867.
Daley TC, Sigman MD. Diagnostic conceptualization of autism among Indian psychiatrists, psychologists, and pediatricians. J Autism Dev Disord 2002, 32: 13–23.
Daley TC. The need for cross-cultural research on the pervasive developmental disorders. Transcult Psychiatry 2002, 39: 531–550.
Sun X, Allison C. A review of the prevalence of autism spectrum disorder in Asia. Res Autism Spectr Disord 2010, 4: 156–167.
Rutter M. Incidence of autism spectrum disorders: changes over time and their meaning. Acta Paediatr 2005, 94: 2–15.
CDC. Prevalence of autism spectrum disorder among children aged 8 years–autism and developmental disabilities monitoring network, 11 sites, United States, 2010. Morbidity and Mortality Weekly Report: Surveillance Summaries 2014, 63: 1–14.
Fombonne E. Epidemiology of autistic disorder and other pervasive developmental disorders. J Clin Psychiatry 2005, 66 Suppl 10: 3–8.
Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res 2009, 65: 591–598.
Elsabbagh M, Divan G, Koh YJ, Kim YS, Kauchali S, Marcín C, et al. Global prevalence of autism and other pervasive developmental disorders. Autism Res 2012, 5: 160–179.
Newschaffer CJ, Croen LA, Daniels J, Giarelli E, Grether JK, Levy SE, et al. The epidemiology of autism spectrum disorders. Annu Rev Public Health 2007, 28: 235–258.
Devlin B, Scherer SW. Genetic architecture in autism spectrum disorder. Curr Opin Genet Devel 2012, 22: 229–237.
Schaaf Christian P, Zoghbi Huda Y. Solving the autism puzzle a few pieces at a time. Neuron 2011, 70: 806–808.
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, 15: 133–141.
He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, et al. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genetics 2013, 9: e1003671.
Krishnan A, Zhang R, Yao V, Theesfeld CL, Wong AK, Tadych A, et al. Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nat Neurosci 2016, 19: 1454–1462.
Patterson PH. Maternal infection and immune involvement in autism. Trends Mol Med 2011, 17: 389–394.
Gardener H, Spiegelman D, Buka SL. Perinatal and neonatal risk factors for autism: a comprehensive meta-analysis. Pediatrics 2011, 128: 344–355.
Malkova NV, Yu CZ, Hsiao EY, Moore MJ, Patterson PH. Maternal immune activation yields offspring displaying mouse versions of the three core symptoms of autism. Brain Behav Immun 2012, 26: 607–616.
Abdallah MW, Mortensen EL, Greaves-Lord K, Larsen N, Bonefeld-Jorgensen EC, Norgaard-Pedersen B, et al. Neonatal levels of neurotrophic factors and risk of autism spectrum disorders. Acta Psychiatr Scand 2013, 128: 61–69.
Herbert MR. Contributions of the environment and environmentally vulnerable physiology to autism spectrum disorders. Curr Opin Neurol 2010, 23: 103–110.
Boggess A, Faber S, Kern J, Kingston HM. Mean serum-level of common organic pollutants is predictive of behavioral severity in children with autism spectrum disorders. Sci Rep 2016, 6: 26185.
Chaste P, Leboyer M. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci 2012, 14: 281–292.
Ozonoff S, Heung K, Byrd R, Hansen R, Hertz-Picciotto I. The onset of autism: patterns of symptom emergence in the first years of life. Autism Res 2008, 1: 320–328.
Howlin P, Goode S, Hutton J, Rutter M. Adult outcome for children with autism. J Child Psychol Psychiatry 2004, 45: 212–229.
Fein D, Barton M, Eigsti IM, Kelley E, Naigles L, Schultz RT, et al. Optimal outcome in individuals with a history of autism. J Child Psychol Psychiatry 2013, 54: 195–205.
Szatmari P, Georgiades S, Duku E, Bennett TA, Bryson S, Fombonne E et al. Developmental trajectories of symptom severity and adaptive functioning in an inception cohort of preschool children with autism spectrum disorder. JAMA Psychiatry 2015, 72: 276–283.
Weitlauf AS, Gotham KO, Vehorn AC, Warren ZE. Brief Report: DSM-5 “Levels of Support:” a comment on discrepant conceptualizations of severity in ASD. J Autism Dev Disord 2014, 44: 471–476.
Bolte S, de Schipper E, Robison JE, Wong VC, Selb M, Singhal N, et al. Classification of functioning and impairment: the development of ICF core sets for autism spectrum disorder. Autism Res 2014, 7: 167–172.
Volkmar FR, Cohen DJ. Disintegrative disorder or “late onset” autism. J Child Psychol Psychiatry 1989, 30: 717–724.
Geschwind DH, Levitt P. Autism spectrum disorders: developmental disconnection syndromes. Curr Opin Neurobiol 2007, 17: 103–111.
Willsey AJ, State MW. Autism spectrum disorders: from genes to neurobiology. Curr Opin Neurobiol 2015, 30: 92–99.
Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, et al. Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet 2012, 21: 4781–4792.
Bourgeron T. From the genetic architecture to synaptic plasticity in autism spectrum disorder. Nat Rev Neurosci 2015, 16: 551–563.
Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 2014, 94: 677–694.
O’Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012, 485: 246–250.
Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, et al. Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism 2012, 3: 9.
Huguet G, Ey E, Bourgeron T. The genetic landscapes of autism spectrum disorders. Ann Rev Genomics Hum Genet 2013, 14: 191–213.
Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007, 39: 25–27.
Kim YS, State MW. Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders. Int J Epidemiol 2014, 43: 465–475.
Geschwind DH. Genetics of autism spectrum disorders. Trends Cogn Sci 2011, 15: 409–416.
Wen Y, Alshikho MJ, Herbert MR. Pathway network analyses for autism reveal multisystem involvement, major overlaps with other diseases and convergence upon MAPK and calcium signaling. PLoS One 2016, 11: e0153329.
Kohane IS, McMurry A, Weber G, MacFadden D, Rappaport L, Kunkel L, et al. The co-morbidity burden of children and young adults with autism spectrum disorders. PLoS One 2012, 7: e33224.
White SW, Oswald D, Ollendick T, Scahill L. Anxiety in children and adolescents with autism spectrum disorders. Clin Psychol Rev 2009, 29: 216–229.
Magnuson KM, Constantino JN. Characterization of depression in children with autism spectrum disorders. J Dev Behav Pediatr 2011, 32: 332–340.
Ghanizadeh A. Co-morbidity and factor analysis on attention deficit hyperactivity disorder and autism spectrum disorder DSM-IV-derived items. J Res Med Sci 2012, 17: 368–372.
Tuchman R, Cuccaro M, Alessandri M. Autism and epilepsy: historical perspective. Brain Dev 2010, 32: 709–718.
Goldman SE, Surdyka K, Cuevas R, Adkins K, Wang L, Malow BA. Defining the sleep phenotype in children with autism. Dev Neuropsychol 2009, 34: 560–573.
McElhanon BO, McCracken C, Karpen S, Sharp WG. Gastrointestinal symptoms in autism spectrum disorder: a meta-analysis. Pediatrics 2014, 133: 872–883.
Rossignol DA, Frye RE. Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Mol Psychiatry 2012, 17: 290–314.
Ashwood P, Wills S, Van de Water J. The immune response in autism: a new frontier for autism research. J Leukoc Biol 2006, 80: 1–15.
Ko C, Kim N, Kim E, Song DH, Cheon KA. The effect of epilepsy on autistic symptom severity assessed by the social responsiveness scale in children with autism spectrum disorder. Behav Brain Funct 2016, 12: 20.
Goldman SE, McGrew S, Johnson KP, Richdale AL, Clemons T, Malow BA. Sleep is associated with problem behaviors in children and adolescents with autism spectrum disorders. Res Autism Spectr Disord 2011, 5: 1223–1229.
Sikora DM, Johnson K, Clemons T, Katz T. The relationship between sleep problems and daytime behavior in children of different ages with autism spectrum disorders. Pediatrics 2012, 130: S83–90.
Cohen S, Conduit R, Lockley SW, Rajaratnam SMW, Cornish KM. The relationship between sleep and behavior in autism spectrum disorder (ASD): a review. J Neurodev Disord 2014, 6: 44.
Schreck KA, Mulick JA, Smith AF. Sleep problems as possible predictors of intensified symptoms of autism. Res Dev Disabil 2004, 25: 57–66.
Mazurek MO, Sohl K. Sleep and behavioral problems in children with autism spectrum disorder. J Autism Dev Disord 2016, 46: 1906–1915.
Chaidez V, Hansen RL, Hertz-Picciotto I. Gastrointestinal problems in children with autism, developmental delays or typical development. J Autism Dev Disord 2014, 44: 1117–1127.
Goines P, Van de Water J. The immune system’s role in the biology of autism. Curr Opin Neurol 2010, 23: 111–117.
Ashwood P, Enstrom A, Krakowiak P, Hertz-Picciotto I, Hansen RL, Croen LA, et al. Decreased transforming growth factor beta1 in autism: a potential link between immune dysregulation and impairment in clinical behavioral outcomes. J Neuroimmunol 2008, 204: 149–153.
Ashwood P, Krakowiak P, Hertz-Picciotto I, Hansen R, Pessah I, Van de Water J. Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome. Brain Behav Immun 2011a, 25: 40–45.
Ashwood P, Krakowiak P, Hertz-Picciotto I, Hansen R, Pessah IN, Van de Wate J. Associations of impaired behaviors with elevated plasma chemokines in autism spectrum disorders. J Neuroimmunol 2011b, 232: 196–199.
Gesundheit B, Rosenzweig JP, Naor D, Lerer B, Zachor DA, Procházka V, et al. Immunological and autoimmune considerations of autism spectrum disorders. J Autoimmun 2013, 44: 1–7.
Ousley O, Cermak T. Autism spectrum disorder: defining dimensions and subgroups. Curr Dev Disord Rep 2014, 1: 20–28.
Werling DM, Geschwind DH. Sex differences in autism spectrum disorders. Curr Opin Neurol 2013, 26: 146–153.
Baron-Cohen S. The extreme male brain theory of autism. Trends Cogn Sci 2002, 6: 248–254.
Baron-Cohen S, Knickmeyer RC, Belmonte MK. Sex differences in the brain: implications for explaining autism. Science 2005, 310: 819–823.
Baron-Cohen S, Auyeung B, Norgaard-Pedersen B, Hougaard DM, Abdallah MW, Melgaard L, et al. Elevated fetal steroidogenic activity in autism. Mol Psychiatry 2015, 20: 369–376.
Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, et al. A higher mutational burden in females supports a “female protective model” in neurodevelopmental disorders. Am J Hum Genet 2014, 94: 415–425.
Dworzynski K, Ronald A, Bolton P, Happe F. How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders? J Am Acad Child Adolesc Psychiatry 2012, 51: 788–797.
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, 53: 329–340.e321–323.
Szatmari P, Liu XQ, Goldberg J, Zwaigenbaum L, Paterson AD, Woodbury-Smith M, et al. Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability. Am J Med Genet B Neuropsychiatr Genet 2012, 159b: 5–12.
Mandy W, Chilvers R, Chowdhury U, Salter G, Seigal A, Skuse D. Sex differences in autism spectrum disorder: evidence from a large sample of children and adolescents. J. Autism Dev Disord 2012, 42: 1304–1313.
Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L, et al. Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics 2011, 128: e488–495.
Xie F, Peltier M, Getahun D. Is the risk of autism in younger siblings of affected children moderated by sex, race/ethnicity, or gestational age? J Dev Behav Pediatr 2016, 37: 603–609.
Werling DM, Geschwind DH. Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins. Mol Autism 2015, 6: 27.
Yatawara CJ, Einfeld SL, Hickie IB, Davenport TA, Guastella AJ. The effect of oxytocin nasal spray on social interaction deficits observed in young children with autism: a randomized clinical crossover trial. Mol Psychiatry 2016, 21: 1225–1231.
McPheeters ML, Warren Z, Sathe N, Bruzek JL, Krishnaswami S, Jerome RN, et al. A systematic review of medical treatments for children with autism spectrum disorders. Pediatrics 2011, 127: e1312–e1321.
Siegel M, Beaulieu AA. Psychotropic medications in children with autism spectrum disorders: a systematic review and synthesis for evidence-based practice. J Autism Dev Disord 2012, 42: 1592–1605.
Freeth M, Sheppard E, Ramachandran R, Milne E. A cross-cultural comparison of autistic traits in the UK, India and Malaysia. J Autism Dev Disord 2013, 43: 2569–2583.
King BH, Wright D, Handen BL, Sikich L, Zimmerman AW, McMahon W, et al. Double-blind, placebo-controlled study of amantadine hydrochloride in the treatment of children with autistic disorder. J Am Acad Child Adolesc Psychiatry 2001, 40: 658–665.
Eldevik S, Hastings RP, Hughes JC, Jahr E, Eikeseth S, Cross S. Meta-analysis of Early Intensive Behavioral Intervention for children with autism. J Clin Child Adolesc Psychol 2009, 38: 439–450.
Ospina MB, Krebs Seida J, Clark B, Karkhaneh M, Hartling L, Tjosvold L, et al. Behavioural and developmental interventions for autism spectrum disorder: a clinical systematic review. PLoS One 2008, 3: e3755.
Spreckley M, Boyd R. Efficacy of applied behavioral intervention in preschool children with autism for improving cognitive, language, and adaptive behavior: a systematic review and meta-analysis. J Pediatr 2009, 154: 338–344.
McCracken JT, McGough J, Shah B, Cronin P, Hong D, Aman MG, et al. Risperidone in children with autism and serious behavioral problems. N Engl J Med 2002, 347: 314–321.
Anderson GM, Scahill L, McCracken JT, McDougle CJ, Aman MG, Tierney E, et al. Effects of short-and long-term risperidone treatment on prolactin levels in children with autism. Biol Psychiatry 2007, 61: 545–550.
Kent J, Kushner S, Ning X, Karcher K, Ness S, Aman M, et al. Risperidone dosing in children and adolescents with autistic disorder: a double-blind, placebo-controlled study. J Autism Dev Disord 2013, 43: 1773–1783.
Lemmon ME, Gregas M, Jeste SS. Risperidone use in autism spectrum disorders: a retrospective review of a clinic-referred patient population. J Child Neurol 2011, 26: 428–432.
Marcus RN, Owen R, Kamen L, Manos G, McQuade RD, Carson WH, et al. A placebo-controlled, fixed-dose study of aripiprazole in children and adolescents with irritability associated with autistic disorder. J Am Acad Child Adolesc Psychiatry 2009, 48: 1110–1119.
Owen R, Sikich L, Marcus RN, Corey-Lisle P, Manos G, McQuade RD, et al. Aripiprazole in the treatment of irritability in children and adolescents with autistic disorder. Pediatrics 2009, 124: 1533–1540.
Robb AS, Andersson C, Bellocchio EE, Manos G, Rojas-Fernandez C, Mathew S, et al. Safety and tolerability of aripiprazole in the treatment of irritability associated with autistic disorder in pediatric subjects (6–17 years Old): Results from a pooled analysis of 2 studies. Prim Care Companion CNS Disord 2011, 13: e1–e9.
Kirino E. Efficacy and safety of aripiprazole in child and adolescent patients. Eur Child Adolesc Psychiatry 2012, 21: 361–368.
Rizzo R, Pavone P. Aripiprazole for the treatment of irritability and aggression in children and adolescents affected by autism spectrum disorders. Expert Rev Neurother 2016, 16: 867–874.
Krakowiak P, Goodlin-Jones B, Hertz-Picciotto I, Croen LA, Hansen RL. Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population-based study. J Sleep Res 2008, 17: 197–206.
Richdale AL, Schreck KA. Sleep problems in autism spectrum disorders: prevalence, nature, & possible biopsychosocial aetiologies. Sleep Med Rev 2009, 13: 403–411.
Woolfenden S, Sarkozy V, Ridley G, Coory M, Williams K. A systematic review of two outcomes in autism spectrum disorder–epilepsy and mortality. Dev Med Child Neurol 2012, 54: 306–312.
Strang JF, Kenworthy L, Daniolos P, Case L, Wills MC, Martin A, et al. Depression and anxiety symptoms in children and adolescents with autism spectrum disorders without intellectual disability. Res Autism Spectr Disord 2012, 6: 406–412.
Kim H, Lim CS, Kaang BK. Neuronal mechanisms and circuits underlying repetitive behaviors in mouse models of autism spectrum disorder. Behav Brain Funct 2016, 12: 1–13.
Fuccillo MV. Striatal circuits as a common node for autism pathophysiology. Front Neurosci 2016, 10: 27.
Constantino JN, Charman T. Diagnosis of autism spectrum disorder: reconciling the syndrome, its diverse origins, and variation in expression. Lancet Neurol 2016, 15: 279–291.
Goldani AAS, Downs SR, Widjaja F, Lawton B, Hendren RL. Biomarkers in autism. Front Psychiatry 2014, 5: 100.
Bent S, Hendren RL. Improving the prediction of response to therapy in autism. Neurotherapeutics 2010, 7: 232–240.
Insel TR. The NIMH Research Domain Criteria (RDoC) Project: precision medicine for psychiatry. Am J Psychiatry 2014, 171: 395–397.