Infant siblings and the investigation of autism risk factors

Journal of Neurodevelopmental Disorders

Kristine M Shedd-Wise²  Adam Schroeder²  Juhi Pandey⁶  Sally Ozonoff⁷  McKenzie C Oliver²  Sandra M Mohammed²  Stacey C Meyerer⁸  Maria L Massolo⁴  Susan E Levy⁶  Rebecca J Landa¹  H Nicole Hess⁵  Homayoon Farzadegan⁸  Carmen A Berry⁸  Nora L Lee³  Danh V Nguyen²  Irva Hertz-Picciotto²  M Daniele Fallin⁸  Lisa A Croen⁴  Craig J Newschaffer³ 

[1] Kennedy Krieger Institute, 3901 Greenspring Avenue, 2nd Floor, Baltimore, MD 21211, USA;Department of Public Health Sciences, University of California, Davis, CA 95616, USA;Department of Epidemiology and Biostatistics, Drexel School of Public Health, 1505 Race Street, Mail Stop 1033, Philadelphia, PA 19102, USA;Kaiser Permanente Division of Research, 2000 Broadway, Oakland, CA 94612, USA;Kaiser Permanente San Jose Medical Center, 6620 Via Del Oro, San Jose, CA 95119, USA;Center for Autism Research, The Children's Hospital of Philadelphia, 3535 Market Street, Suite 860, Philadelphia, PA 19104, USA;The MIND Institute, UC Davis Medical Center, 2825 50th Street, Sacramento, CA 95817, USA;Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615 N Wolfe Street, Baltimore, MD 21205, USA

关键词: Study Design;    Sibling;    Prospective;    Pregnancy;    Epidemiology;    Cohort;    Autism;   

Others  :  811999
DOI  :  10.1186/1866-1955-4-7

 received in 2011-11-06, accepted in 2012-04-18,  发布年份 2012

【 摘 要 】

Infant sibling studies have been at the vanguard of autism spectrum disorders (ASD) research over the past decade, providing important new knowledge about the earliest emerging signs of ASD and expanding our understanding of the developmental course of this complex disorder. Studies focused on siblings of children with ASD also have unrealized potential for contributing to ASD etiologic research. Moving targeted time of enrollment back from infancy toward conception creates tremendous opportunities for optimally studying risk factors and risk biomarkers during the pre-, peri- and neonatal periods. By doing so, a traditional sibling study, which already incorporates close developmental follow-up of at-risk infants through the third year of life, is essentially reconfigured as an enriched-risk pregnancy cohort study. This review considers the enriched-risk pregnancy cohort approach of studying infant siblings in the context of current thinking on ASD etiologic mechanisms. It then discusses the key features of this approach and provides a description of the design and implementation strategy of one major ASD enriched-risk pregnancy cohort study: the Early Autism Risk Longitudinal Investigation (EARLI).

【 授权许可】

   
2012 Newschaffer et al; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

【 参考文献 】

• [1]Pearson JS, Kley IB: On the application of genetic expectancies as age-specific base rates in the study of human behavior disorders. Psychol Bull 1957, 54:406-420.
• [2]Hanson DR, Gottesman II: The genetics, if any, of infantile autism and childhood schizophrenia. J Autism Child Schizophr 1976, 6:209-234.
• [3]Garmezy N: Children at risk: the search for the antecedents of schizophrenia. Part II: ongoing research programs, issues, and intervention. Schizophr Bull 1974, 9:55-125.
• [4]Folstein S, Rutter M: Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 1977, 18:297-321.
• [5]Yirmiya N, Ozonoff S: The very early autism phenotype. J Austim Dev Disord 2007, 37:1-11.
• [6]Rogers SJ: What are infant siblings teaching us about autism in infancy? Autism Res 2009, 2:125-137.
• [7]Zwaigenbaum L, Bryson S, Rogers T, Roberts W, Brian J, Szatmari P: Behavioral manifestations of autism in the first year of life. Int J Dev Neurosci 2005, 23:143-152.
• [8]Yirmiya N, Gamliel I, Pilowsky T, Feldman R, Baron-Cohen S, Sigman M: The development of siblings of children with autism at 4 and 14 months: social engagement, communication, and cognition. J Child Psychol Psychiatry 2006, 47:511-523.
• [9]Mitchell S, Brian J, Zwaigenbaum L, Roberts W, Szatmari P, Smith I, Bryson S: Early language and communication development of infants later diagnosed with autism spectrum disorder. J Dev Behav Pediatr 2006, 27:S69-S78.
• [10]Landa R, Garrett-Mayer E: Development in infants with autism spectrum disorders: a prospective study. J Child Psychol Psychiatry 2006, 47:629-638.
• [11]Folstein S, Rutter M: Genetic influences and infantile autism. Nature. 1977, 265:726-728.
• [12]Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M: Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995, 25:63-77.
• [13]Ritvo ER, Spence MA, Freeman BJ, Mason-Brothers A, Mo A, Marazita ML: Evidence for autosomal recessive inheritance in 46 families with multiple incidences of autism. Am J Psychiatry 1985, 142:187-192.
• [14]Steffenburg S, Gillberg C, Hellgren L, Andersson L, Gillberg IC, Jakobsson G, Bohman M: A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 1989, 30:405-416.
• [15]Chakrabarti S, Fombonne E: Pervasive developmental disorders in preschool children. JAMA 2001, 285:3093-3099.
• [16]Smalley SL, Asarnow RF, Spence MA: Autism and genetics: a decade of research. Arch Gen Psychiatry 1988, 45:953-961.
• [17]Bailey A, Palferman S, Heavey L, Le Couteur A: Autism: the phenotype in relatives. J Autism Dev Disord 1998, 28:369-392.
• [18]Szatmari P, Jones MB, Zwaigenbaum L, MacLean JE: Genetics of autism: overview and new directions. J Autism Dev Disord 1998, 28:351-368.
• [19]Chudley AE, Gutierrez E, Jocelyn LJ, Chodriker BN: Outcomes of genetic evaluation in children with pervasive developmental disorder. J Dev Behav Pediatr 1998, 19:321-325.
• [20]Veenstra-Vanderweele J, Cook EH Jr, Lombroso PJ: Genetics of childhood disorders: XLVI. Autism, part 5: genetics of autism. J Am Acad Child Adolesc Psychiatry 2003, 42:116-118.
• [21]Bolton PF, Pickles A, Murphy M, Rutter M: Autism, affective and other psychiatric disorders: patterns of familial aggregation. Psychol Med 1998, 28:385-395.
• [22]Piven J, Palmer P, Jacobi D, Childress D, Arndt S: Broader autism phenotype: evidence from a family history study of multiple-incidence autism families. Am J Psychiatry 1997, 154:185-190.
• [23]Ritvo ER, Jorde LB, Mason-Brothers A, Freeman BJ, Pingree C, Jones MB, McMahon WM, Petersen PB, Jenson WR, Mo A: The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling. Am J Psychiatry 1989, 146:1032-1036.
• [24]Jorde LB, Hasstedt SJ, Ritvo ER, Mason-Brothers A, Freeman BJ, Pingree C, McMahon WM, Petersen B, Jenson WR, Mo A: Complex segregation analysis of autism. Am J Hum Genet 1991, 49:932-938.
• [25]Ritvo ER, Freeman BJ, Mason-Brothers A, Mo A, Ritvo AM: Concordance for the syndrome of autism in 40 pairs of afflicted twins. Am J Psychiatry 1985, 142:74-77.
• [26]Bolton P, Macdonald H, Pickles A, Rios P, Goode S, Crowson M, Bailey A, Rutter M: A case-control family history study of autism. J Child Psychol Psychiatry 1994, 35:877-900.
• [27]Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J, Kalaydjieva L, McCague P, Dimiceli S, Pitts T, Nguyen L, Yang J, Harper C, Thorpe D, Vermeer S, Young H, Hebert J, Lin A, Ferguson J, Chiotti C, Wiese-Slater S, Rogers T, Salmon B, Nicholas P, Petersen PB, Pingree C, McMahon W, Wong DL, Cavalli-Sforza LL, Kraemer HC, Myers RM: A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 1999, 65:493-507.
• [28]Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M: Autism in Angelman syndrome: a population-based study. Pediatr Neurol 1996, 14:131-136.
• [29]Smalley SL: Autism and tuberous sclerosis. J Autism Dev Disord 1998, 28:407-414.
• [30]Folstein SE, Rutter ML: Autism: familial aggregation and genetic implications. J Autism Dev Disord 1988, 18:3-30.
• [31]Brown WT, Jenkins EC, Cohen IL, Fisch GS, Wolf-Schein EG, Gross A, Waterhouse L, Fein D, Mason-Brothers A, Ritvo E: Fragile X and autism: a multicenter survey. Am J Med Genet 1986, 23:341-352.
• [32]Folstein SE, Piven J: Etiology of autism: genetic influences. Pediatrics 1991, 87:767-773.
• [33]Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, et al.: Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009, 5:e1000536.
• [34]Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, et al.: Strong association of de novo copy number mutations with autism. Science 2007, 316:445-449.
• [35]Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, et al.: Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010, 466:368-372.
• [36]Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, et al.: Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet 2009, 46:242-248.
• [37]Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, et al.: A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010, 19:4072-4082.
• [38]Scherer SW, Dawson G: Risk factors for autism: translating genomic discoveries into diagnostics. Hum Genet 2011, 130:123-148.
• [39]Betancur C: Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 2011, 1380:42-77.
• [40]Devlin B, Melhem N, Roeder K: Do common variants play a role in risk for autism? Evidence and theoretical musings. Brain Res 2011, 1380:78-84.
• [41]Hu VW, Addington A, Hyman A: Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data. PLoS One 2011, 6:e19067.
• [42]Anney RJ, Kenny EM, O'Dushlaine C, Yaspan BL, Parkhomenka E, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L, Bailey AJ, Fernandez BA, Szatmari P, Scherer SW, Patterson A, Marshall CR, Pinto D, Vincent JB, Fombonne E, Betancur C, Delorme R, Leboyer M, Bourgeron T, Mantoulan C, Roge B, Tauber M, Freitag CM, Poustka F, Duketis E, Klauck SM, The Autism Genome Project, et al.: Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. Eur J Hum Genet 2011, 19:1082-1089.
• [43]Yaspan BL, Bush WS, Torstenson ES, Ma D, Pericak-Vance MA, Ritchie MD, Sutcliffe JS, Haines JL: Genetic analysis of biological pathway data through genomic randomization. Hum Genet 2011, 129:563-571.
• [44]Hussman JP, Chung RH, Griswold AJ, Jaworski JM, Salyakina D, Ma D, Konidari I, Whitehead PL, Vance JM, Martin ER, Cuccaro ML, Gilbert JR, Haines JL, Pericak-Vance MA: A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism. Mol Autism 2011, 2:1. BioMed Central Full Text
• [45]Geschwind DH: Genetics of autism spectrum disorders. Trends Cogn Sci 2011, 15:409-416.
• [46]Cook EH Jr, Scherer SW: Copy-number variations associated with neuropsychiatric conditions. Nature 2008, 455:919-923.
• [47]State MW: The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. Neuron 2010, 68:254-269.
• [48]Abrahams BS, Geschwind DH: Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 2008, 9:341-355.
• [49]Freitag CM, Staal W, Klauck SM, Duketis E, Waltes R: Genetics of autistic disorders: review and clinical implications. Eur Child Adolesc Psychiatry 2010, 19:169-178.
• [50]Merikangas AK, Corvin AP, Gallagher L: Copy-number variants in neurodevelopmental disorders: promises and challenges. Trends Genet 2009, 25:536-544.
• [51]O'Roak BJ, State MW: Autism genetics: strategies, challenges, and opportunities. Autism Res 2008, 1:4-17.
• [52]Eapen V: Genetic basis of autism: is there a way forward? Curr Opin Psychiatry 2011, 24:226-236.
• [53]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: Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry 2011, 68:1095-1102.
• [54]Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L, Bryson S, Carver LJ, Constantino JN, Dobkins K, Hutman T, Iverson JM, Landa R, Rogers SJ, Sigman M, Stone WL: Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics 2011, 128:e488-e495.
• [55]Schanen NC: Epigenetics of autism spectrum disorders. Hum Mol Genet 2006, 15(Spec No 2):R138-R150.
• [56]Grafodatskaya D, Chung B, Szatmari P, Weksberg R: Autism spectrum disorders and epigenetics. J Am Acad Child Adolesc Psychiatry 2010, 49:794-809.
• [57]Bjornsson HT, Cui H, Gius D, Fallin MD, Feinberg AP: The new field of epigenomics: implications for cancer and other common disease research. Cold Spring Harb Symp Quant Biol 2004, 69:447-456.
• [58]Chess S: Autism in children with congenital rubella. J Autism Child Schizophr 1971, 1:33-47.
• [59]Chess S: Follow-up report on autism in congenital rubella. J Autism Child Schizophr 1977, 7:69-81.
• [60]Yamashita Y, Fujimoto C, Nakajima E, Isagai T, Matsuishi T: Possible association between congenital cytomegalovirus infection and autistic disorder. J Autism Dev Disord 2003, 33:455-459.
• [61]Rodier PM, Ingram JL, Tisdale B, Croog VJ: Linking etiologies in humans and animal models: studies of autism. Reprod Toxicol 1997, 11:417-422.
• [62]Christianson AL, Chesler N, Kromberg JG: Fetal valproate syndrome: clinical and neuro-developmental features in two sibling pairs. Dev Med Child Neurol 1994, 36:361-369.
• [63]Williams PG, Hersh JH: A male with fetal valproate syndrome and autism. Dev Med Child Neurol 1997, 39:632-634.
• [64]Moore SJ, Turnpenny P, Quinn A, Glover S, Lloyd DJ, Montgomery T, Dean JCS: A clinical study of 57 children with fetal anticonvulsant syndromes. J Med Genet 2000, 37:489-497.
• [65]Croen LA, Connors SL, Matevia M, Qian Y, Newschaffer C, Zimmerman AW: Prenatal exposure to β2-adrenergic receptor agonists and risk of autism spectrum disorders. J Neurodev Disord 2011, 3:307-315.
• [66]Croen LA, Grether JK, Yoshida CK, Odouli R, Hendrick V: Antidepressant use during pregnancy and childhood autism spectrum disorders. Arch Gen Psychiatry 2011, 68:1104-1112.
• [67]Atladóttir HO, Thorsen P, Østergaard L, Schendel DE, Lemcke S, Abdallah M, Parner ET: Maternal infection requiring hospitalization during pregnancy and autism spectrum disorders. J Autism Dev Disord 2010, 40:1423-1430.
• [68]Goines PE, Croen LA, Braunschweig D, Yoshida CK, Grether J, Hansen R, Kharrazi M, Ashwood P, Van de Water J: Increased midgestational IFN-γ, IL-4 and IL-5 in women bearing a child with autism: a case-control study. Mol Autism 2011, 2:13. BioMed Central Full Text
• [69]Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH: Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 2011, 474:380-384.
• [70]Vargas DL, Nascimbene C, Krishnan C, Zimmerman AW, Pardo CA: Neuroglial activation and neuroinflammation in the brain of patients with autism. Ann Neurol 2005, 57:67-81.
• [71]Gardener H, Spiegelman D, Buka SL: Prenatal risk factors for autism: comprehensive meta-analysis. Br J Psychiatry 2009, 195:7-14.
• [72]Gardener H, Spiegelman D, Buka SL: Perinatal and neonatal risk factors for autism: a comprehensive meta-analysis. Pediatrics 2011, 128:344-355.
• [73]Kolevzon A, Gross R, Reichenberg A: Prenatal and perinatal risk factors for autism: a review and integration of findings. Arch Pediatr Adolesc Med 2007, 161:326-333.
• [74]Sasanfar R, Haddad SA, Tolouei A, Ghadami M, Yu D, Santangelo SL: Paternal age increases the risk for autism in an Iranian population sample. Mol Autism 2010, 1:2. BioMed Central Full Text
• [75]Shelton JF, Tancredi DJ, Hertz-Picciotto I: Independent and dependent contributions of advanced maternal and paternal ages to autism risk. Autism Res 2010, 3:30-39.
• [76]Grether JK, Anderson MC, Croen LA, Smith D, Windham GC: Risk of autism and increasing maternal and paternal age in a large North American population. Am J Epidemiol 2009, 170:1118-1126.
• [77]King MD, Fountain C, Dakhlallah D, Bearman PS: Estimated autism risk and older reproductive age. Am J Public Health 2009, 99:1673-1679.
• [78]Durkin MS, Maenner MJ, Newschaffer CJ, Lee LC, Cunniff CM, Daniels JL, Kirby RS, Leavitt L, Miller L, Zahorodny W, Schieve LA: Advanced parental age and the risk of autism spectrum disorder. Am J Epidemiol 2008, 168:1268-1276.
• [79]Croen LA, Najjar DV, Fireman B, Grether JK: Maternal and paternal age and risk of autism spectrum disorders. Arch Pediatr Adolesc Med 2007, 161:334-340.
• [80]Reichenberg A, Gross R, Weiser M, Bresnahan M, Silverman J, Harlap S, Rabinowitz J, Shulman C, Malaspina D, Lubin G, Knobler HY, Davidson M, Susser E: Advancing paternal age and autism. Arch Gen Psychiatry 2006, 63:1026-1032.
• [81]Cheslack-Postava K, Liu K, Bearman PS: Closely spaced pregnancies are associated with increased odds of autism in California sibling births. Pediatrics 2011, 127:246-253.
• [82]Schmidt RJ, Hansen RL, Hartiala J, Allayee H, Schmidt LC, Tancredi DJ, Tassone F, Hertz-Picciotto I: Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism. Epidemiology 2011, 22:476-485.
• [83]Palmer RF, Blanchard S, Stein Z, Mandell D, Miller C: Environmental mercury release, special education rates, and autism disorder: an ecological study of Texas. Health Place 2006, 12:203-209.
• [84]Windham GC, Zhang L, Gunier R, Croen LA, Grether JK: Autism spectrum disorders in relation to distribution of hazardous air pollutants in the San Francisco Bay area. Environ Health Perspect 2006, 114:1438-1444.
• [85]Kalkbrenner AE, Daniels JL, Chen JC, Poole C, Emch M, Morrissey J: Perinatal exposure to hazardous air pollutants and autism spectrum disorders at age 8. Epidemiology 2010, 21:631-641.
• [86]Volk HE, Hertz-Picciotto I, Delwiche L, Lurmann F, McConnell R: Residential proximity to freeways and autism in the CHARGE study. Environ Health Perspect 2011, 119:873-877.
• [87]Roberts EM, English PB, Grether JK, Windham GC, Somberg L, Wolff C: Maternal residence near agricultural pesticide applications and autism spectrum disorders among children in the California Central Valley. Environ Health Perspect 2007, 115:1482-1489.
• [88]Eskenazi B, Huen K, Marks A, Harley KG, Bradman A, Barr DB, Holland N: PON1 and neurodevelopment in children from the CHAMACOS study exposed to organophosphate pesticides in utero. Environ Health Perspect 2010, 118:1775-1781.
• [89]Rauh VA, Garfinkel R, Perera FP, Andrews HF, Hoepner L, Barr DB, Whitehead R, Tang D, Whyatt RW: Impact of prenatal chlorpyrifos exposure on neurodevelopment in the first 3 years of life among inner-city children. Pediatrics 2006, 118:e1845-e1859.
• [90]Engel SM, Wetmur J, Chen J, Zhu C, Barr DB, Canfield RL, Wolff MS: Prenatal exposure to organophosphates, paraoxonase 1, and cognitive development in childhood. Environ Health Perspect 2011, 119:1182-1188.
• [91]Bouchard MF, Chevrier J, Harley KG, Kogut K, Vedar M, Calderon N, Trujillo C, Johnson C, Bradman A, Barr DB, Eskenazi B: Prenatal exposure to organophosphate pesticides and IQ in 7-year-old children. Environ Health Perspect 2011, 119:1189-1195.
• [92]Rodier PM, Ingram JL, Tisdale B, Nelson S, Romano J: Embryological origin for autism: developmental anomalies of the cranial nerve motor nuclei. J Comp Neurol 1996, 370:247-261.
• [93]Bauman ML, Kemper TL: Neuroanatomic observations of the brain in autism: a review and future directions. Int J Dev Neurosci 2005, 23:183-187.
• [94]Kemper TL, Bauman M: Neuropathology of infantile autism. J Neuropathol Exp Neurol 1998, 57:645652.
• [95]Acosta MT, Pearl PL: The neurobiology of autism: new pieces of the puzzle. Curr Neurol Neurosci Rep 2003, 3:149-156.
• [96]Schumann CM, Bloss CS, Barnes CC, Wideman GM, Carper RA, Akshoomoff N, Pierce K, Hagler D, Schork N, Lord C, Courchesne E: Longitudinal magnetic resonance imaging study of cortical development through early childhood in autism. J Neurosci 2010, 30:4419-4427.
• [97]Hazlett HC, Poe MD, Gerig G, Styner M, Chappell C, Smith RG, Vachet C, Piven J: Early brain overgrowth in autism associated with an increase in cortical surface area before age 2 years. Arch Gen Psychiatry 2011, 68:467-476.
• [98]Johnson MB, Kawasawa YI, Mason CE, Krsnik Z, Coppola G, Bogdanović D, Geschwind DH, Mane SM, State MW, Sestan N: Functional and evolutionary insights into human brain development through global transcriptome analysis. Neuron 2009, 62:494-509.
• [99]Rice D, Barone S Jr: Critical periods of vulnerability for the developing nervous system: evidence from humans and animal models. Environ Health Perspect 2000, 108(Suppl 3):511-533.
• [100]Rodier PM: Environmental causes of central nervous system maldevelopment. Pediatrics 2004, 113:1076-1083.
• [101]Persico AM, Bourgeron T: Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends Neurosci 2006, 29:349-358.
• [102]Toro R, Konyukh M, Delorme R, Leblond C, Chaste P, Fauchereau F, Coleman M, Leboyer M, Gillberg C, Bourgeron T: Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet 2010, 26:363-372.
• [103]Connors SL, Levitt P, Matthews SG, Slotkin TA, Johnston MV, Kinney HC, Johnson WG, Dailey RM, Zimmerman AW: Fetal mechanisms in neurodevelopmental disorders. Pediatr Neurol 2008, 38:163-176.
• [104]Royland JE, Kodavanti PR: Gene expression profiles following exposure to a developmental neurotoxicant, Aroclor 1254: pathway analysis for possible mode(s) of action. Toxicol Appl Pharmacol 2008, 231:179-196.
• [105]Augustine-Rauch KA, Zhang QJ, Posobiec L, Mirabile R, DeBoer LS, Solomon HM, Wier PJ: SB-236057: Critical window of sensitivity study and embryopathy of a potent musculoskeletal teratogen. Birth Defects Res A Clin Mol Teratol 2004, 70:773-788.
• [106]Szatmari P, Jones MB, Tuff L, Bartolucci G, Fisman S, Mahoney W: Lack of cognitive impairment in first-degree relatives of children with pervasive developmental disorders. J Am Acad Child Adolesc Psychiatry 1993, 32:1264-1273.
• [107]Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal Investigators, Centers for Disease Control and Prevention (CDC): Prevalence of autism spectrum disorders: Autism and Developmental Disabilities Monitoring Network, United States, 2006. MMWR Surveill Summ 2009, 58(SS10):1-20.
• [108]Toth K, Dawson G, Meltzoff AN, Greenson J, Fein D: Early social, imitation, play, and language abilities of young non-autistic siblings of children with autism. J Autism Dev Disord 2007, 37:145-157.
• [109]Lord C, Rutter M, Le Couteur A: Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994, 24:659-685.
• [110]Lord C, Risi S, Lambrecht L, Cook EH Jr, Leventhal BL, DiLavore PC, Pickles A, Rutter M: The Autism Diagnostic Observation Schedule-Generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000, 30:205-223.
• [111]Weinberg CR, Shore DL, Umbach DM, Sandler DP: Using risk-based sampling to enrich cohorts for endpoints, genes, and exposures. Am J Epidemiol 2007, 166:447-455.
• [112]Constantino JN, Todd RD: Autistic traits in the general population: a twin study. Arch Gen Psychiatry 2003, 60:524-530.
• [113]Ronald A, Happe F, Price TS, Baron-Cohen S, Plomin R: Phenotypic and genetic overlap between autistic traits at the extremes of the general population. J Am Acad Child Adolesc Psychiatry 2006, 45:1206-1214.
• [114]Skuse DH, Mandy W, Steer C, Miller LL, Goodman R, Lawrence K, Emond A, Golding J: Social communication competence and functional adaptation in a general population of children: preliminary evidence for sex-by-verbal IQ differential risk. J Am Acad Child Adolesc Psychiatry 2009, 48:128-137.
• [115]Bryson SE, Zwaigenbaum L, McDermott C, Rombough V, Brian J: The Autism Observation Scale for Infants: scale development and reliability data. J Autism Dev Disord 2008, 38:731-738.
• [116]Mullen EM: Mullen Scales of Early Learning. San Antonio, TX: Pearson Education; 1995.
• [117]Bishop SL, Guthrie W, Coffing M, Lord C: Convergent validity of the Mullen Scales of Early Learning and the differential ability scales in children with autism spectrum disorders. Am J Intellect Dev Disabil 2011, 116:331-343.
• [118]Rozga A, Hutman T, Young GS, Rogers SJ, Ozonoff S, Dapretto M, Sigman M: Behavioral profiles of affected and unaffected siblings of children with autism: contribution of measures of mother-infant interaction and nonverbal communication. J Autism Dev Disord 2011, 41:287-301.
• [119]Flanagan J, Landa R, Bauman M: Head lag in infants at risk for autism: a preliminary study. Am J Occup Ther, in press.
• [120]Newport DJ, Brennan PA, Green P, Ilardi D, Whitfield TH, Morris N, Knight BT, Stowe ZN: Maternal depression and medication exposure during pregnancy: comparison of maternal retrospective recall to prospective documentation. BJOG 2008, 115:681-688.
• [121]Voldsgaard P, Schiffman J, Mednick S, Rodgers B, Christensen H, Bredkjær S, Schulsinger F: Accuracy of retrospective reports of infections during pregnancy. Int J Methods Psychiatr Res 2002, 11:184-186.
• [122]Werler MM, Pober BR, Nelson K, Holmes LB: Reporting accuracy among mothers of malformed and nonmalformed infants. Am J Epidemiol 1989, 129:415-421.
• [123]Langholz B, Thomas DC: Nested case-control and case-cohort methods of sampling from a cohort: a critical comparison. Am J Epidemiol 1990, 131:169-176.
• [124]Steenland K, Deddens JA: Increased precision using countermatching in nested case-control studies. Epidemiology 1997, 8:238-242.
• [125]Schaubel D, Hanley J, Collet JP, Bolvin JF, Sharpe C, Morrison HI, Mao Y: Two-stage sampling for etiologic studies: sample size and power. Am J Epidemiol 1997, 146:450-458.
• [126]Spiegelman D, Gray R: Cost-efficient study designs for binary response data with Gaussian covariate measurement error. Biometrics 1991, 47:851-869.
• [127]Early Autism Risk Longitudinal Investigation (EARLI) Study [https://www.facebook.com/The.EARLI.Study] webcite
• [128]All about the EARLI Study [http://www.youtube.com/watch?v=FdFxehVpZH4&lr=1] webcite
• [129]Early Autism Risk Longitudinal Investigation [http://www.earlistudy.org] webcite
• [130]Julien R, Adamkiewicz G, Levy JI, Bennett D, Nishioka M, Spengler JD: Pesticide loadings of select organophosphate and pyrethroid pesticides in urban public housing. J Expo Sci Environ Epidemiol 2008, 18:167-174.
• [131]Allen JG, McClean MD, Stapleton HM, Webster TF: Critical factors in assessing exposure to PBDEs via house dust. Environ Int 2008, 34:1085-1091.
• [132]Vojta PJ, Friedman W, Marker DA, Clickner R, Rogers JW, Viet SM, Muilenberg ML, Thorne PS, Arbes SJ Jr, Zeldin DC: First National Survey of Lead and Allergens in Housing: survey design and methods for the allergen and endotoxin components. Environ Health Perspect 2002, 110:527-532.
• [133]Rudel RA, Camann DE, Spengler JD, Korn LR, Brody JG: Phthalates, alkylphenols, pesticides, polybrominated diphenyl ethers, and other endocrine-disrupting compounds in indoor air and dust. Environ Sci Technol 2003, 37:4543-4553.
• [134]Wu N, Herrmann T, Paepke O, Tickner J, Hale R, Harvey LE, La Guardia M, McClean MD, Webster TF: Human exposure to PBDEs: associations of PBDE body burdens with food consumption and house dust concentrations. Environ Sci Technol 2007, 41:1584-1589.
• [135]Colt JS, Davis S, Severson RK, Lynch CF, Cozen W, Camann D, Engels EA, Blair A, Hartge P: Residential insecticide use and risk of non-Hodgkin's lymphoma. Cancer Epidemiol Biomarkers Prev 2006, 15:251-257.
• [136]Colt JS, Rothman N, Severson RK, Hartge P, Cerhan JR, Chatterjee N, Cozen W, Morton LM, De Roos AJ, Davis S, Chanock S, Wang SS: Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma. Blood 2009, 113:1899-1905.
• [137]Colt JS, Severson RK, Lubin J, Rothman N, Camann D, Davis S, Cerhan JR, Cozen W, Hartge P: Organochlorines in carpet dust and non-Hodgkin lymphoma. Epidemiology 2005, 16:516-525.
• [138]Thorne PS, Kulhankova K, Yin M, Cohn R, Arbes SJ Jr, Zeldin DC: Endotoxin exposure is a risk factor for asthma: the national survey of endotoxin in United States housing. Am J Respir Crit Care Med 2005, 172:1371-1377.
• [139]Bornehag CG, Sundell J, Weschler CJ, Sigsgaard T, Lundgren B, Hasselgren M, Hägerhed-Engman L: The association between asthma and allergic symptoms in children and phthalates in house dust: a nested case-control study. Environ Health Perspect 2004, 112:1393-1397.
• [140]Georgiades S, Szatmari P, Zwaigenbaum L, Bryson SE, Brian J, Roberts W, Smith IM, Vaillancourt T, Roncadin C: A prospective study of sub-threshold autistic-like traits in unaffected siblings of children with autism spectrum disorder [abstract 128.004]. Presented at the International Meeting for Autism Research, 13 San Diego USA: CA 2011.
• [141]Kim SH, Lord C: Combining information from multiple sources for the diagnosis of autism spectrum disorders for toddlers and young preschoolers from 12 to 47 months of age. J Child Psychol Psychiatry 2012, 53:143-151.
• [142]Gotham K, Pickles A, Lord C: Standardizing ADOS scores for a measure of severity in autism spectrum disorders. J Autism Dev Disord 2009, 39:693-705.
• [143]Constantino JN, Davis SA, Todd RD, Schindler MK, Gross MM, Brophy SL, Metzger LM, Shoushtari CS, Splinter R, Reich W: Validation of a brief quantitative measure of autistic traits: comparison of the Social Responsiveness Scale with the Autism Diagnostic Interview-Revised. J Autism Dev Disord 2003, 33:427-433.
• [144]Bolte S, Poustka F, Constantino JN: Assessing autistic traits: cross-cultural validation of the Social Responsiveness Scale (SRS). Autism Res 2008, 1:354-363.
• [145]Virkud YV, Todd RD, Abbacchi AM, Zhang Y, Constantino JN: Familial aggregation of quantitative autistic traits in multiplex versus simplex autism. Am J Med Genet B Neuropsychiatr Genet 2009, 150B:328-334.
• [146]Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P: Sibling recurrence and the genetic epidemiology of autism. Am J Psychiatry 2010, 167:1349-1356.
• [147]Akshoomoff N: Use of the Mullen Scales of Early Learning for the assessment of young children with autism spectrum disorders. Child Neuropsychol 2006, 12:269-277.
• [148]Szatmari P, Merette C, Emond C, Zwaigenbaum L, Jones MB, Maziade M, Roy MA, Palmour R: Decomposing the autism phenotype into familial dimensions. Am J Med Genet B Neuropsychiatr Genet 2008, 147B:3-9.
• [149]Sparrow SS, Balla DA, Cicchetti DV, Bella DA: Vineland Adaptive Behavior Scale-II. San Antonio, TX: Pearson Education; 2005.
• [150]Fenton G, D'Ardia C, Valente D, Del Vecchio I, Fabrizi A, Bernabei P: Vineland Adaptive Behavior profiles in children with autism and moderate to severe developmental delay. Autism 2003, 7:269-287.
• [151]Wetherby AM, Prizant BM: Communication and Symbolic Behavior Scales Developmental Profile (CSBS DP). Baltimore: Paul H. Brookes Publishing Co; 2002.
• [152]Eadie PA, Ukoumunne O, Skeat J, Prior MR, Bavin E, Bretherton L, Reilly S: Assessing early communication behaviours: structure and validity of the Communication and Symbolic Behaviour Scales-Developmental Profile (CSBS-DP) in 12-month-old infants. Int J Lang Commun Disord 2010, 45:572-585.
• [153]Luyster R, Lopez K, Lord C: Characterizing communicative development in children referred for autism spectrum disorders using the MacArthur-Bates Communicative Development Inventory (CDI). J Child Lang 2007, 34:623-654.
• [154]MacArthur-Bates Communicative Development Inventories [http://www.sci.sdsu.edu/cdi/] webcite
• [155]Little LM, Freuler AC, Houser MB, Guckian L, Carbine K, David FJ, Baranek GT: Psychometric validation of the Sensory Experiences Questionnaire. Am J Occup Ther 2011, 65:207-210.
• [156]Garon N, Bryson SE, Zwaigenbaum L, Smith IM, Brian J, Roberts W, Szatmari P: Temperament and its relationship to autistic symptoms in a high-risk infant sib cohort. J Abnorm Child Psychol 2009, 37:59-78.
• [157]Rothbart MK: Measurement of temperament in infancy. Child Dev 1981, 52:569-578.
• [158]Achenbach TM: [http://www.aseba.org] webciteAchenbach System of Empirically Based Assessment (ASEBA): Development, Findings, Theory, and Applications. Burlington, VT: University of Vermont, Research Center for Children, Youth, & Families; 2009.
• [159]Pandolfi V, Magyar CI, Dill CA: Confirmatory factor analysis of the Child Behavior Checklist 1.5-5 in a sample of children with autism spectrum disorders. J Autism Dev Disord 2009, 39:986-995.
• [160]Centers for Disease Control and Prevention (CDC): Autism Spectrum Disorders: (ASDs): Study to Explore Early Development (SEED). [http://www.cdc.gov/ncbddd/autism/seed.html] webcite
• [161]UC Davis MIND Institute: Current Research Studies. [http://www.ucdmc.ucdavis.edu/mindinstitute/research/esdm/currentprojects.html] webcite
• [162]Brain Development in Autism: Infant Siblings [http://www.ibisnetwork.org] webcite
• [163]Torrey EF, Dhavale D, Lawlor JP, Yolken RH: Autism and head circumference in the first year of life. Biol Psychiatry 2004, 56:892-894.
• [164]Heikura U: [http://herkules.oulu.fi/isbn9789514287114/isbn9789514287114.pdf] webciteIntellectual Disability in the Northern Finland Birth Cohort 1986. Oulu, Finland: Oulu University Press; 2008.
• [165]Williams E, Thomas K, Sidebotham H, Emond A: Prevalence and characteristics of autistic spectrum disorders in the ALSPAC cohort. Dev Med Child Neurol 2008, 50:672-677.
• [166]Eliasen M, Tolstrup JS, Nybo Andersen AM, Grønbæk M, Olsen J, Strandberg-Larsen K: Prenatal alcohol exposure and autistic spectrum disorders: a population-based prospective study of 80,552 children and their mothers. Int J Epidemiol 2010, 39:1074-1081.
• [167]Stoltenberg C, Schjølberg S, Bresnahan M, Hornig M, Hirtz D, Dahl C, Lie KK, Reichborn-Kjennerud T, Schreuder P, Alsaker E, Oyen AS, Magnus P, Surén P, Susser E, Lipkin WI, ABC Study Group: The Autism Birth Cohort: a paradigm for gene-environment-timing research. Mol Psychiatry 2010, 15:676-680.
• [168]Tsuchiya K, Matsumoto K, Suda S, Miyachi T, Itoh H, Kanayama N, Hirano K, Ohzeki T, Takei N, HBC Study Team: Searching for very early precursors of autism spectrum disorders: the Hamamatsu Birth Cohort for Mothers and Children (HBC). J Dev Orig Health Dis 2010, 1:158-173.
• [169]Magnus P, Irgens LM, Haug K, Nystad W, Skjærven R, Stoltenberg C, MoBa Study Group: Cohort profile: the Norwegian Mother and Child Cohort Study (MoBa). Int J Epidemiol 2006, 35:1146-1150.
• [170]Hertz-Picciotto I, Croen LA, Hansen R, Jones CR, van de Water J, Pessah IN: The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism. Environ Health Perspect 2006, 114:1119-1125.
• [171]Schendel DE, DiGuiseppi C, Croen LA, Fallin MD, Reed PL, Schieve LA, Wiggins LD, Daniels J, Grether J, Levy SE, Miller L, Newschaffer C, Pinto-Martin J, Robinson C, Windham GC, Alexander A, Aylsworth AS, Bernal P, Bonner JD, Blaskey L, Bradley C, Collins J, Ferretti CJ, Farzadegan H, Giarelli E, Harvey M, Hepburn S, Herr M, Kaparich K, Landa R, et al.: The Study to Explore Early Development (SEED): a multisite epidemiologic study of autism by the Centers for Autism Developmental Disabilities Research and Epidemiology (CADDRE) Network1. J Autism Dev Disord, in press. doi:10.1007/s10803-012-1461-8