1 |
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-8.
DOI
|
2 |
Courchesne E, Karns CM, Davis HR, Ziccardi R, Carper RA, Tigue ZD, et al. Unusual brain growth patterns in early life in patients with autistic disorder: an MRI study. Neurology 2001;57:245-54.
DOI
|
3 |
Chandana SR, Behen ME, Juhasz C, Muzik O, Rothermel RD, Mangner TJ, et al. Significance of abnormalities in developmental trajectory and asymmetry of cortical serotonin synthesis in autism. Int J Dev Neurosci 2005;23:171-82.
DOI
|
4 |
American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Washington, DC: American Psychiatric Association, 2013:50-9.
|
5 |
Wing L, Potter D. The epidemiology of autistic spectrum disorders: is the prevalence rising? Ment Retard Dev Disabil Res Rev 2002; 8:151-61.
DOI
|
6 |
Eun BL, Kim SW, Kim YK, Kim JW, Moon JS, Park SK, et al. Overview of the national health screening program for infant and children. Korean J Pediatr 2008;51:225-32.
DOI
|
7 |
Kanner L. Autistic disturbances of affective contact. Nerv Child 1943;2:217-50.
|
8 |
Bailey A, Phillips W, Rutter M. Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. J Child Psychol Psychiatry 1996;37:89-126.
DOI
|
9 |
Nassar N, Dixon G, Bourke J, Bower C, Glasson E, de Klerk N, et al. Autism spectrum disorders in young children: effect of changes in diagnostic practices. Int J Epidemiol 2009;38:1245-54.
DOI
|
10 |
Kogan MD, Blumberg SJ, Schieve LA, Boyle CA, Perrin JM, Ghandour RM, et al. Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics 2009;124:1395-403.
DOI
|
11 |
Parner ET, Schendel DE, Thorsen P. Autism prevalence trends over time in Denmark: changes in prevalence and age at diagnosis. Arch Pediatr Adolesc Med 2008;162:1150-6.
DOI
|
12 |
Chakrabarti S, Fombonne E. Pervasive developmental disorders in preschool children. JAMA 2001;285:3093-9.
DOI
|
13 |
Moss J, Howlin P. Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. J Intellect Disabil Res 2009;53:852-73.
DOI
|
14 |
Fombonne E, Du Mazaubrun C, Cans C, Grandjean H. Autism and associated medical disorders in a French epidemiological survey. J Am Acad Child Adolesc Psychiatry 1997;36:1561-9.
|
15 |
Chudley AE, Gutierrez E, Jocelyn LJ, Chodirker BN. Outcomes of genetic evaluation in children with pervasive developmental disorder. J Dev Behav Pediatr 1998;19:321-5.
DOI
|
16 |
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. Global variation in copy number in the human genome. Nature 2006;444:444-54.
DOI
|
17 |
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011;70:863-85.
DOI
|
18 |
Fabrichny IP, Leone P, Sulzenbacher G, Comoletti D, Miller MT, Taylor P, et al. Structural analysis of the synaptic protein neuroligin and its beta-neurexin complex: determinants for folding and cell adhesion. Neuron 2007;56:979-91.
DOI
|
19 |
Gilman SR, Iossifov I, Levy D, Ronemus M, Wigler M, Vitkup D. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 2011;70:898-907.
DOI
|
20 |
Betancur C, Sakurai T, Buxbaum JD. The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci 2009;32:402-12.
DOI
|
21 |
Gerrow K, Romorini S, Nabi SM, Colicos MA, Sala C, El-Husseini A. A preformed complex of postsynaptic proteins is involved in excitatory synapse development. Neuron 2006;49:547-62.
DOI
|
22 |
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010;466:368-72.
DOI
|
23 |
Tripi G, Roux S, Canziani T, Bonnet Brilhault F, Barthelemy C, Canziani F. Minor physical anomalies in children with autism spectrum disorder. Early Hum Dev 2008;84:217-23.
DOI
|
24 |
Sacco R, Militerni R, Frolli A, Bravaccio C, Gritti A, Elia M, et al. Clinical, morphological, and biochemical correlates of head circumference in autism. Biol Psychiatry 2007;62:1038-47.
DOI
|
25 |
Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet 2008;16:1289-300.
DOI
|
26 |
Goffin A, Hoefsloot LH, Bosgoed E, Swillen A, Fryns JP. PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet 2001;105:521-4.
DOI
|
27 |
Palmieri L, Persico AM. Mitochondrial dysfunction in autism spectrum disorders: cause or effect? Biochim Biophys Acta 2010; 1797:1130-7.
DOI
|
28 |
Neves-Pereira M, Muller B, Massie D, Williams JH, O'Brien PC, Hughes A, et al. Deregulation of EIF4E: a novel mechanism for autism. J Med Genet 2009;46:759-65.
DOI
|
29 |
Krey JF, Dolmetsch RE. Molecular mechanisms of autism: a possible role for Ca2+ signaling. Curr Opin Neurobiol 2007;17:112-9.
DOI
|
30 |
Giulivi C, Zhang YF, Omanska-Klusek A, Ross-Inta C, Wong S, Hertz-Picciotto I, et al. Mitochondrial dysfunction in autism. JAMA 2010;304:2389-96.
DOI
|
31 |
Lawler CP, Croen LA, Grether JK, Van de Water J. Identifying environmental contributions to autism: provocative clues and false leads. Ment Retard Dev Disabil Res Rev 2004;10:292-302.
DOI
|
32 |
Durkin MS, Maenner MJ, Newschaffer CJ, Lee LC, Cunniff CM, Daniels JL, et al. Advanced parental age and the risk of autism spectrum disorder. Am J Epidemiol 2008;168:1268-76.
DOI
|
33 |
Kinney DK, Barch DH, Chayka B, Napoleon S, Munir KM. Environmental risk factors for autism: do they help cause de novo genetic mutations that contribute to the disorder? Med Hypotheses 2010; 74:102-6.
DOI
|
34 |
Levy SE, Mandell DS, Schultz RT. Autism. Lancet 2009;374:1627-38.
DOI
|
35 |
Kemper TL, Bauman M. Neuropathology of infantile autism. J Neuropathol Exp Neurol 1998;57:645-52.
DOI
|
36 |
Mundy P, Markus J. On the nature of communication and language impairment in autism. Ment Retard Dev Disabil Res Rev 1997;3:343-9.
DOI
|
37 |
Lord C. Follow-up of two-year-olds referred for possible autism. J Child Psychol Psychiatry 1995;36:1365-82.
DOI
|
38 |
Baird G, Charman T, Cox A, Baron-Cohen S, Swettenham J, Wheelwright S, et al. Current topic: Screening and surveillance for autism and pervasive developmental disorders. Arch Dis Child 2001;84:468-75.
DOI
|
39 |
Howlin P, Moore A. Diagnosis of autism: a survey of over 1200 patients in the UK. Autism 1997;1:135-62.
DOI
|
40 |
Johnson CP, Myers SM; American Academy of Pediatrics Council on Children With Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics 2007;120: 1183-215.
DOI
|
41 |
Robins DL, Dumont-Mathieu TM. Early screening for autism spectrum disorders: update on the modified checklist for autism in toddlers and other measures. J Dev Behav Pediatr 2006;27(2 Suppl):S111-9.
DOI
|
42 |
Stone WL, Coonrod EE, Ousley OY. Brief report: screening tool for autism in two-year-olds (STAT): development and preliminary data. J Autism Dev Disord 2000;30:607-12.
DOI
|
43 |
Chlebowski C, Green JA, Barton ML, Fein D. Using the childhood autism rating scale to diagnose autism spectrum disorders. J Autism Dev Disord 2010;40:787-99.
DOI
|
44 |
Lord C, Rutter M, Le Couteur A. Autism diagnostic interviewrevised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994;24:659-85.
DOI
|
45 |
Kagan-Kushnir T, Roberts SW, Snead OC 3rd. Screening electroencephalograms in autism spectrum disorders: evidence-based guideline. J Child Neurol 2005;20:197-206.
DOI
|
46 |
Handen BL, Johnson CR, Lubetsky M. Efficacy of methylphenidate among children with autism and symptoms of attention-deficit hyperactivity disorder. J Autism Dev Disord 2000;30:245-55.
DOI
|
47 |
Dunlap G, Fox L. A demonstration of behavioral support for young children with autism. J Posit Behav Interv 1999;1:77-87.
DOI
|
48 |
Rugino TA, Samsock TC. Levetiracetam in autistic children: an open-label study. J Dev Behav Pediatr 2002;23:225-30.
DOI
|
49 |
Hollander E, Dolgoff-Kaspar R, Cartwright C, Rawitt R, Novotny S. An open trial of divalproex sodium in autism spectrum disorders. J Clin Psychiatry 2001;62:530-4.
DOI
|