Abstract
The purpose of this update is to provide a review of current literature pertaining to Autism Spectrum Disorders and some of the more useful and practical innovations in the field, based on recent publications as well as some consensus. We have also taken the liberty of inserting some practical key points in the update. These are intended to facilitate acquisition of salient historical points, as well as demystifying the presentation of the diagnosis to parents and caregivers.
We will begin by giving a general overview of issues around prevalence and some discussion around etiology, assessment and treatment, and then select a few important and possibly controversial topics to discuss. Throughout the chapter, we will attempt to make things easy to understand, practical and as much as possible, evidence-based.
References
Agudelo A, Rosas-Bermudez A, et al. Birth spacing and risk of autism and other neurodevelopmental disabilities: a systematic review. Pediatrics. 2016;137(5):1–13.
American Speech-Language Hearing AssociationAutism review; 2015. http://www.asha.org/PRPSpecificTopic.aspx?folderid=8589935303§ion=Overview
Anagnostou A, Zwaigenbaum L, et al. Autism spectrum disorder: advances in evidence-based practice. CMAJ. 2014;186(7):509–19.
Antshel MA, Zhang-James Y, et al. An update on the comorbidity of ADHD and ASD: a focus on clinical management. Expert Rev Neurother. 2013;16(3):279–93.
Babenko O, Kovalchuk I, et al. stress-induced perinatal and transgenerational epigenetic programming of brain development and mental health. Neurosci Biobehav Rev. 2015;48:70–91.
Bauman ML. Medical comorbidities in autism: challenges to diagnosis and treatment. Neurotherapeutics. 2010;7(3):320–7.
Beversdorf DQ, Manning SE, et al. Timing of prenatal stressors and autism. J Autism Dev Disord. 2005;35(4):471–8.
Buie T, Campbell DB, et al. Evaluation, diagnosis and treatment of gastrointestinal disorders in individuals with autism spectrum disorders: a consensus report. Pediatrics. 2010;125(1):S1–18.
Buio J. Prevalence of autism spectrum disorders, among children aged eight years: autism and developmental disabilities monitoring network. CDC. 2014;63(SS02):1–12.
Burd L, Li Q, et al. Tourette syndrome and co-morbid pervasive developmental disorder. J Child Neurol. 2009;24(2):170–5.
Buss C, Davis EP, et al. High pregnancy anxiety during mid-gestation is associated with decreased gray matter density 6–8 year-old children. Psychoneuroendocrinology. 2010;35(1):141–53.
Centres for Disease Control and Prevention 2016. http://www.cdc.gov/measles/cases-outbreaks.html.
Cohen S, Conduit R, et al. The relationship between sleep and behaviour in autism spectrum disorders: a review. J Neurodev Disord. 2014;6(1):44.
Constantino J. 2012. Social responsiveness scale, second edition (SRS-2). www.wpspublish.com
Cortesi F, Giannotti F, et al. Sleep in children with autism spectrum disorder. Sleep Med. 2010;11(7):659–64.
Courchesne E, Carper R, et al. Evidence of brain overgrowth in the first year of life and autism. JAMA. 2003;290(3):337–44.
Coury D. Medical treatment of autism spectrum disorders. Curr Opin Neurol. 2010;23:131–6.
Coury DL, Ashwood P, et al. Gastrointestinal conditions in children with autism spectrum disorders: developing a research agenda. Pediatrics. 2012;130(2):S160–8.
Craig F, Margari F, et al. A review of executive function deficits in autism spectrum disorder and attention deficit hyperactivity disorder. Neuropsychiatr Dis Treat. 2016;12:1191–202.
Crawford S. On the origins of autism: the quantitative threshold exposure hypothesis. Med Hypotheses. 2015;85:798–806.
Davis NO, Kollins SH. Treatment of co-occurring attention deficit hyperactivity disorder and autism spectrum disorder. Neurotherapeutics. 2012;9:518–30.
Dawson G, Burner K. Behavioural interventions in children and adolescents with autism spectrum disorders: a review of recent findings. Curr Opin Pediatr. 2011;23(6):616–20.
Dawson G, Rogers S, et al. Randomized controlled trial of an intervention for toddlers with autism: the early start Denver model. Pediatrics. 2010;125(1):e17–23.
De Angelis M, Francavilla R, et al. Autism spectrum disorders and intestinal microbiota. Gut Microbes. 2015;6(3):207–13.
Demicheli V, Rivetti A, et al. Vaccines for measles mumps and rubella in children. Cochrane Database Syst Rev. 2012;2:CD004407.
Doja A, Roberts W. Immunize stations in autism: a review of the literature. Can J Neurol Sci. 2006;33(4):341–6.
Dosman CF, Brian JA, et al. Children with autism: effect of iron supplementation on sleep and ferritin. Pediatr Neurol. 2007;36(3):152–8.
Dziuk MA, Gidley L, et al. Dyspraxia in autism associated with motor, social and communicative deficits. Dev Med Child Neurol. 2007;49(10):734–9.
Evrard SG. Prenatal alcohol exposure as an etiological factor in neuropsychiatric diseases of childhood adolescence and adults. Vertex. 2010;21(92):260–5.
Filipek PA, Accardo PJ, et al. Practice parameter: screening and diagnosis of autism. Neurology. 2000;55(4):468–79.
Folstein SE, Carcache LM. Psychiatric comorbidity in autism spectrum disorder. In: CJ MD, editor. Autism spectrum disorder. Oxford University Press: Oxford; 2016.
Fombonne E. Epidemiological trends in rates of autism. Mol Psychiatry. 2002;7(Suppl 2):S4–6.
Fombonne E. Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord. 2003a;33(3):365–82.
Fombonne E. The prevalence of autism. JAMA. 2003b;289(1):87–9.
Fombonne E. Epidemiology of autistic disorder and other pervasive developmental disorders. J Clin Psychiatry. 2005;66(suppl 10):3–8.
Frye RE, Rossignol DA. Identification and treatment of pathophysiological comorbidities of autism spectrum disorders to achieve optimal outcomes. Clin Med Insights Pediatr. 2016;10:43–56.
Fung LK, Mahajan R, et al. Pharmacological treatment of severe irritability and problem behaviours in autism: a systematic review and meta-analysis. Pediatrics. 2016;137(2):S124–35.
Goldman SE, Adkins KW, et al. Melatonin in children with autism spectrum disorders: endogenous and pharmacokinetic profiles in relation to sleep. J Autism Dev Disord. 2014;44(10):2525–35.
Groer MW, Gregory KE, et al. The very low birth weight infant microbiome and child health. Birth Defects Res C Embryo Today. 2015;105(4):252–64.
Grossi E, Veggo F, et al. Pregnancy risk factors in autism: a pilot study with artificial neural networks. Pediatr Res. 2016;79(2):339–47.
Hollander E, Chaplin W, et al. Divalproex sodium vs placebo for the treatment of irritability in children and adolescents with autism spectrum disorders. Neuropsychopharmacology. 2010;35(4):990–8.
Huisman-van Dijk HM, van de Schoot R, et al. The relationship between tics, OC, ADHD and autism symptoms: a cross-disorder symptom analysis in Gilles de la Tourette syndrome patients and family-members. Psychiatry Res. 2016;237(2016):138–46.
Jain A, Marshall J, et al. Autism occurrence by MMR vaccine status among US children with older siblings with and without autism. Lancet. 2015;313(15):1534–40.
Ji N, Finding RL. An update of pharmacotherapy for autism spectrum disorder in children and adolescents. Curr Opin Psychiatry. 2015;28:91–101.
Joseph L, Soorya L, Thurm A. Autism spectrum disorder. Cambridge, MA: Hogrefe and Huber Publishers; 2014.
Kalyva E, Kyriazi M, et al. A review of co-occurrence of autism spectrum disorder and Tourette syndrome. Res Autism Spectr Disord. 2016;24:39–51.
Kasari C, Gulsrud AC, et al. Randomized controlled caregiver mediated joint engagement intervention for toddlers with autism. J Autism Dev Disord. 2010;40(9):1045–56.
King S, Dancause K, et al. Using natural disasters to study the effects of prenatal maternal stress on child health and development. Birth Defects Res C Embryo Today. 2012;96(4):273–88.
Kinney DK, Miller AM, et al. Autism prevalence following prenatal exposure to hurricanes and tropical storms in Louisiana. J Autism Dev Disord. 2008;38(3):481–8.
Kullage KM, Smaldone AM, Cohn EG. How will DSM 5 affect autism diagnosis? A systematic literature review and meta-analysis. J Autism Dev Disord. 2014;44(8):1918–32.
Lecavalier L. Behavioural and emotional problems in young people with pervasive developmental disorders: relative prevalence, effects of subject characteristics and empirical classification. J Autism Dev Disord. 2006;36(8):1101–14.
Lord C, Bishop SL. Recent advances in autism research as reflected in DSM-V criteria for autism spectrum disorder. Annu Rev Clin Psychol. 2015;11:53–70.
Lord C, Rutter M. 2012. Autism diagnostic observation schedule, second edition (AD0S-2). www.wpspublish.com
Lord C, Rutter M, et al. 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(5):659–85.
Lord C, Risi S, et al. Autism from 2 To 9 years of age. Arch Gen Psychiatry. 2006;63(6):694–701.
Ludvigsson JF, et al. The nationwide study of the association between celiac disease and the risk of autism spectrum disorders. JAMA Psychiat. 2013;70(14):1224–30.
Madsen KM, Hviid A, et al. A population-based study of measles, mumps, and rubella vaccination and autism. N Engl J Med. 2002;347(19):1477–82.
Mahajan R, Bernal MP, et al. Clinical practice pathways for evaluation and medication choice for attention deficit/hyperactivity disorder symptoms in autism spectrum disorders. Pediatrics. 2012;m130(2):S125–38.
Mannion A, Leader G. Gastrointestinal symptoms in autism spectrum disorder: a literature review. Rev J Autism Dev Disord. 2014;1:11–7.
Marlow BW, Marzec ML, et al. Characterizing sleep in children with autism spectrum disorders: a multidimensional approach. Sleep. 2006;29(12):1563–71.
Matelski L, Van de Water J. Risk factors in autism: thinking outside the brain. J Autoimmun. 2016;67:1–7.
Mayer EA, Tillisch K, et al. Gut/brain axis and they microbiota. J Clin Invest. 2015;125(3):926–38.
Mazefsky CA, Folstein EF, et al. Overrepresentation of mood and anxiety disorders in adults with autism and their first degree relatives: what does it mean? Autism Res. 2008;1(3):193–7.
McDonnell A, McCreadie M, et al. The role of physiological arousal in the management of challenging behaviors in individuals with autism spectrum disorders. Res Dev Disabil. 2015;36:311–22.
Miodovnik A, Harstad E, et al. Timing of diagnosis of attention deficit hyperactivity disorder and autism spectrum disorder. Pediatrics. 2015;136(4):e830–7.
Molloy CA, Morrow AL, et al. Familial autoimmune thyroid disease as a risk factor for regression in children with autism spectrum disorder: a CPEA study. J Autism Dev Disord. 2006;36(3):317–24.
Murray MJ. Attention deficit hyperactivity disorder in the context of autism spectrum disorders. Curr Psychiatry Rep. 2010;12(5):382–8.
O’Mahony SM, Stilling RM, et al. The microbiome and childhood diseases: focus on brain-gut axis. Birth Defects Res C Embryo Today. 2015;105(4):296–313.
Packer A. Neocortical neurogenesis and the etiology of autism spectrum disorder. Neurosci Biobehav Rev. 2016;64(2016):185–95.
Paquet A, Olliac B, et al. Current knowledge of motor disorders in children with Autism Spectrum Disorders. Child Neuropsychol. 2015;29:1–32.
Parmeggiani A, Barcia G. Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorder. Brain and Development. 2010;32(9):783–9.
Pasterski V, Gilligan L, et al. Traits of autism spectrum disorders in adults with gender dysphoria. Arch Sex Behav. 2014;43:387–93.
Peters-Scheffer N, Didden R, Korzilius H, et al. A meta-analytic study on the effectiveness of comprehensive ABA-based early intervention programs for children with autism spectrum disorders. Res Autism Spectr Disord. 2011;5:60–9.
Pierce K, et al. Eye tracking reveals abnormal visual preference for geometric images as an early biomarker of an autism spectrum disorder subtype associated with increased symptom severity. Biol Psychiatry. 2016;79(8):657–66.
Politte LC, Howe Y, et al. Evidence based treatments for autism spectrum disorder. Curr Treat Options Psychiatry. 2015;2:38–56.
Pressler RM, Robinson RO, et al. Treatment of interictal epileptiform discharges can improve behaviour in children with behavioural problems and epilepsy. J Pediatr. 2005;146(1):112–7.
Pringsheim T, Paniagiatopoulos C, Davidson J, et al. Evidence-based recommendations for monitoring safety of second-generation antipsychotics in children and youth. Pediatr Child Health. 2011;16(9):581–9. http://camesaguideline.org/.
Reichow B, Barton EE, Boyd BA, et al. Early intensive behavioral intervention (EIBI) for young children with autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2012;10:CD009260.
Reichow B, Volkmar FR, et al. Systematic review and meta-analysis of pharmacological treatments of the symptoms of attention deficit/hyperactivity disorder in children with pervasive developmental disorders. J Autism Dev Disord. 2013;43(10):2435–41.
Rice CE, Rosanoff M, Dawson G, Durkin MS, Croen LA, Singer A, Yeargin Allsopp M. Evaluating changes in the prevalence of the autism spectrum disorders (ASDs). Public Health Rev. 2012;34(2):1–22.
Richard EF. Prevalence, significance of clinical characteristics of seizures, epilepsy and subclinical electrical activity in autism. NAJ Med Sci. 2015;8(3):113–22.
Rk Y, Thiruvahindrapuram B, et al. Whole genome sequencing of quartet families with autism spectrum disorder. Nat Med. 2015;21(2):185–91.
Robins DL, Casagrande K, et al. Validation off the modified checklist for autism in toddlers, revised with follow-up (M-CHAT-R/F). Pediatrics. 2014;133:37–45.
Rosenfeld CS. Microbiome disturbances and autism spectrum disorders. Drug Metab Dispos. 2015;43(10):1557–71.
Rutter M, Barley A. 2003. Social communication questionnaire. www.wpspublish.com
Sandin S, Lichtenstein P, et al. The familial risk of autism. JAMA. 2014;311(17):1770–7.
Sandin S, Schendel D, et al. Autism risk associated with parental age and with increasing difference in age between the parents. Mol Psychiatry. 2016;21(5):693–700.
Schaefer GB. Clinical genetic aspects of ASD spectrum disorders. Int J Mol Sci. 2016;17(180):1–14.
Schaefer GB, Mendelsohn NJ, et al. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revision. Genet Med. 2013;15(5):399–407.
Schalkwyk V, et al. Gender identity and autism spectrum disorders. Yale J Biol Med. 2015;88:81–3.
Sebat J, Lakshmi B, et al. Strong association of de novo copy number mutations with autism. Science. 2007;316(5823):445–9.
Skagerberg D, Di Ceglie E, et al. Brief report: autistic features in children & adolescents with gender dysphoria. J Autism Dev Disord. 2015;45(8):2628–32.
Smith I, Reichow B, Volkmar FR. The effects of DSM 5 criteria on number of individuals diagnosed with autism spectrum disorder: a systematic review. J Autism Dev Disord. 2015;45(8):2541–52.
Sweeten TL, Bowyer SL, et al. Increased prevalence of familial autoimmunity in probands with pervasive developmental disorders. Pediatrics. 2003;112(5):e420–4.
Talge NM, Neal C, et al. Antenatal maternal stress and long-term effects of child development: how and why? J Child Psychol Psychiatry. 2007;48(3–4):245–61.
Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RKC, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, Howe JL, Gazzellone MJ, Lau L, Sung WWL, Whitten K, Vardy C, Crosbie V, Tsang B, D’Abate L, Tong WWL, Luscombe S, Doyle T, Carter MT, Szatmari P, Stuckless S, Merico D, Stavropoulos DJ, Scherer SW, Fernandez BA. Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA. 2015;314(9):895.
Taylor B, Miller E, et al. Autism and measles, mumps, and rubella vaccine: no epidemiological evidence for a causal association. Lancet. 1999;353(9169):2026–9.
The Autism treatment Network Autism speaks. 2017 (https://www.autismspeaks.org/family-services/tool-kits).
The Morbidity and Mortality Weekly Report (2014) The Morbidity and Mortality Weekly Report (MMWR) 63(SS02):1–21. https://www.cdc.gov/mmwr/preview/mmwrhtml/ss6302a1.htm .
Van der Meer JM, Oerlemans AM, et al. Are autism spectrum disorder and attention deficit hyperactivity disorder different manifestations of one overarching disorder? Cognitive and symptom evidence from a clinical and population-based sample. J Am Acad Child Adolesc Psychiatry. 2012;51(11):1160–72.
Van Steensel FJ, Bogels SM, et al. Anxiety disorders in children and adolescents with autism spectrum disorders: a meta-analysis. Clin Child Fam Psychol Rev. 2011;14(3):302–17.
VanderLaan DP, Leef JH, et al. Autism spectrum disorder risk factors and autistic traits in gender dysphoric children. J Autism Dev Disord. 2015;45:1742–50.
Varadinova M, Boyadjieva N. Epigenetic mechanisms: a possible link between autism spectrum disorders and fetal alcohol spectrum disorders. Pharmacol Res. 2015;102:71–80.
Vasa RA, Mazurek MO, et al. Assessment and treatment of anxiety in youth with autism spectrum disorders. Pediatrics. 2016;137(2):S115–23.
Visser JC, Rommelse NN, et al. Autism spectrum disorder and attention deficit hyperactivity disorder in early childhood: a review of unique and shared characteristics and developmental antecedents. Neurosci Biobehav Rev. 2016;65:229–63.
Wakefield AJ, Murch SH, et al. Ileal-lymphoid-nodular hyperplasia, nonspecific colitis, and pervasive developmental disorder in children. Lancet. 1998;351(9103):637–41.
Walder DJ, Laplante DP, et al. Prenatal maternal stress predicts autism traits in 6 ½ year old children: project ice storm. Psychiatry Res. 2014;219(2):353–60.
Wetherby AM, Brosnan-Maddox S, et al. Validation of the infant toddler checklist as a broad band screener for autism spectrum disorders from 9 to 24 months of age. Autism. 2008;12(5):487–511.
White SW, Oswald D, Ollendick T, Scahill L. Anxiety in children and adolescents with autism spectrum disorders. Clin Psychol Rev. 2009;29(3):216–29.
Xiang AH, Wang X, et al. Association of maternal diabetes with autism in offspring. JAMA. 2015;313(14):1425–34.
Zablotsky B, Black LI, et al. Estimated prevalence of autism and other developmental disabilities following questionnaire changes in the 2014 national health interview survey. Natl Health Stat Rep. 2015;87:1–20.
Zwaigenbaum L, Bryson SE, et al. Sex differences in children with autism spectrum disorder identified within a high-risk infant cohort. J Autism Dev Disord. 2012;42:2585–96.
Zwaigenbaum L, Bauman ML, et al. Early intervention for children with autism spectrum disorder under 3 years of age: recommendations for practice and research. Pediatrics. 2015;136:S60–81.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer International Publishing AG, part of Springer Nature
About this chapter
Cite this chapter
Smith, R., Samdup, D. (2018). Update in Development: Section B—Autism Spectrum Disorder. In: Piteau, S. (eds) Update in Pediatrics. Springer, Cham. https://doi.org/10.1007/978-3-319-58027-2_7
Download citation
DOI: https://doi.org/10.1007/978-3-319-58027-2_7
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-58026-5
Online ISBN: 978-3-319-58027-2
eBook Packages: MedicineMedicine (R0)