Skip to main content
SpringerLink
Log in

Child with Suspected Autism

  • Chapter
  • First Online:
Symptom-Based Approach to Pediatric Neurology

  • 811 Accesses

Abstract

Autism spectrum disorder (ASD) is a common heterogeneous neurodevelopmental disorder characterized by impairments in social development along with associated language delays, restrictive interests, and repetitive behaviors. Children diagnosed with ASD have an increased risk for co-occurring medical conditions including seizures, intellectual disability, and mood disorders. As early identification can improve outcomes in children with ASD, pediatricians who are at the forefront should screen and refer children at risk to subspecialists and appropriate support services for further evaluation and management. This review will discuss indications for screening, diagnostic considerations, the utility, and necessity of evaluations directed at identifying etiology of ASD, along with ASD-specific interventions and management of co-occurring medical conditions.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 89.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. American Psychiatric Association. Diagnostic and statistical manual of mental disorders (DSM-5®). American Psychiatric Pub; 2013.

    Google Scholar 

  2. Maenner MJ, Shaw KA, Baio J. Prevalence of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2016. MMWR Surveill Summ. 2020;69(4):1.

    Article  Google Scholar 

  3. Levy SE, Wolfe A, Coury D, Duby J, Farmer J, Schor E, et al. Screening tools for autism spectrum disorder in primary care: a systematic evidence review. Pediatrics. 2020;145(Suppl 1):S47–59.

    Article  Google Scholar 

  4. Hyman SL, Levy SE, Myers SM. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020;145(1):e20193447.

    Article  Google Scholar 

  5. Baio J. Prevalence of autism spectrum disorder among children aged 8 years-autism and developmental disabilities monitoring network, 11 sites, United States, 2010. 2014.

    Google Scholar 

  6. Zwaigenbaum L, Bauman ML, Fein D, Pierce K, Buie T, Davis PA, et al. Early screening of autism spectrum disorder: recommendations for practice and research. Pediatrics. 2015;136(Supplement 1):S41–59.

    Article  Google Scholar 

  7. Dawson G, Rogers S, Munson J, Smith M, Winter J, Greenson J, et al. Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model. Pediatrics. 2010;125(1):e17–23.

    Article  Google Scholar 

  8. Kasari C, Gulsrud AC, Wong C, Kwon S, Locke J. Randomized controlled caregiver mediated joint engagement intervention for toddlers with autism. J Autism Dev Disord. 2010;40(9):1045–56.

    Article  Google Scholar 

  9. Centers for Disease Control and Prevention. Autism spectrum disorder (ASD)—signs and symptoms 2019. https://www.cdc.gov/ncbddd/autism/signs.html.

  10. Lord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T, et al. Autism spectrum disorder. Nat Rev Dis Primers. 2020;6(1):1–23.

    Article  Google Scholar 

  11. Robins D, Fein D, Barton M. Modified checklist for autism in toddlers, revised with follow-up. https://www.mchatscreen.com; 2009.

  12. Filipek PA, Accardo PJ, Ashwal S, Baranek G, Cook E, Dawson G, et al. Practice parameter: screening and diagnosis of autism: report of the quality standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology. 2000;55(4):468–79.

    Article  CAS  Google Scholar 

  13. Shulman C, Rice CE, Morrier MJ, Esler A. The role of diagnostic instruments in dual and differential diagnosis in autism spectrum disorder across the lifespan. Child Adolesc Psychiatr Clin. 2020;29(2):275–99.

    Article  Google Scholar 

  14. Eaves LC, Wingert HD, Ho HH, Mickelson EC. Screening for autism spectrum disorders with the social communication questionnaire. J Dev Behav Pediatr. 2006;27(2):S95–S103.

    Article  Google Scholar 

  15. Dai YG, Miller LE, Ramsey RK, Robins DL, Fein DA, Dumont-Mathieu T. Incremental utility of 24-month autism spectrum disorder screening after negative 18-month screening. J Autism Dev Disord. 2020;50(6):2030–40.

    Article  Google Scholar 

  16. Mouti A, Dryer R, Kohn M. Differentiating autism spectrum disorder from ADHD using the social communication questionnaire. J Atten Disord. 2019;23(8):828–37.

    Article  Google Scholar 

  17. Schwenck C, Freitag CM. Differentiation between attention-deficit/hyperactivity disorder and autism spectrum disorder by the social communication questionnaire. ADHD Attent Deficit Hyperactivity Disord. 2014;6(3):221–9.

    Article  Google Scholar 

  18. Zwaigenbaum L, Bryson SE, Brian J, Smith IM, Roberts W, Szatmari P, et al. Stability of diagnostic assessment for autism spectrum disorder between 18 and 36 months in a high-risk cohort. Autism Res. 2016;9(7):790–800.

    Article  Google Scholar 

  19. Havdahl KA, Bishop SL, Surén P, Øyen AS, Lord C, Pickles A, et al. The influence of parental concern on the utility of autism diagnostic instruments. Autism Res. 2017;10(10):1672–86.

    Article  Google Scholar 

  20. Volkmar F, Siegel M, Woodbury-Smith M, King B, McCracken J, State M. Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2014;53(2):237–57.

    Article  Google Scholar 

  21. Schaefer GB, Mendelsohn NJ. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013;15(5):399–407.

    Article  CAS  Google Scholar 

  22. Moeschler JB, Shevell M. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014;134(3):e903–18.

    Article  Google Scholar 

  23. Manning M, Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12(11):742–5.

    Article  CAS  Google Scholar 

  24. Ho KS, Wassman ER, Baxter AL, Hensel CH, Martin MM, Prasad A, et al. Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders using an ultra-high resolution chromosomal microarray optimized for neurodevelopmental disorders. Int J Mol Sci. 2016;17(12):2070.

    Article  Google Scholar 

  25. Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, et al. Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA. 2015;314(9):895–903.

    Article  CAS  Google Scholar 

  26. Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010;125(4):e727–35.

    Article  Google Scholar 

  27. McGrew SG, Peters BR, Crittendon JA, Veenstra-VanderWeele J. Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement? J Autism Dev Disord. 2012;42(8):1582–91.

    Article  Google Scholar 

  28. Stone WL, Basit H, Los E. Fragile X syndrome. StatPearls. Treasure Island: StatPearls Publishing. Copyright © 2020, StatPearls Publishing LLC; 2020.

    Google Scholar 

  29. Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, et al. Practice parameter: evaluation of the child with global developmental delay: report of the quality standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2003;60(3):367–80.

    Article  CAS  Google Scholar 

  30. Schiff M, Benoist J-F, Aïssaoui S, Boepsflug-Tanguy O, Mouren M-C, De Baulny HO, et al. Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders? PLoS One. 2011;6(7):e21932.

    Article  CAS  Google Scholar 

  31. Hadjixenofontos A, Schmidt MA, Whitehead PL, Konidari I, Hedges DJ, Wright HH, et al. Evaluating mitochondrial DNA variation in autism spectrum disorders. Ann Hum Genet. 2013;77(1):9–21.

    Article  CAS  Google Scholar 

  32. Campistol J, Díez-Juan M, Callejón L, Fernandez-De Miguel A, Casado M, Garcia Cazorla A, et al. Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders. Dev Med Child Neurol. 2016;58(8):842–7.

    Article  Google Scholar 

  33. García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, et al. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014;35(4):470–7.

    Article  Google Scholar 

  34. van Karnebeek CD, Stockler S. Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. Mol Genet Metab. 2012;105(3):368–81.

    Article  Google Scholar 

  35. Cario H, Smith DE, Blom H, Blau N, Bode H, Holzmann K, et al. Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. Am J Hum Genet. 2011;88(2):226–31.

    Article  CAS  Google Scholar 

  36. Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, et al. Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. Am J Med Genet A. 2015;167(9):2162–7.

    Article  Google Scholar 

  37. Flinn AM, Gennery AR. Adenosine deaminase deficiency: a review. Orphanet J Rare Dis. 2018;13(1):1–7.

    Article  Google Scholar 

  38. Legido A, Jethva R, Goldenthal MJ, editors. Mitochondrial dysfunction in autism. Seminars in pediatric neurology. Elsevier; 2013.

    Google Scholar 

  39. Jiang Y-H, Wang Y, Xiu X, Choy KW, Pursley AN, Cheung SW. Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era. Crit Rev Clin Lab Sci. 2014;51(5):249–62.

    Article  CAS  Google Scholar 

  40. Frye RE. Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder. Epilepsy Behav. 2015;47:147–57.

    Article  Google Scholar 

  41. Wong C, Odom SL, Hume KA, Cox AW, Fettig A, Kucharczyk S, et al. Evidence-based practices for children, youth, and young adults with autism spectrum disorder: a comprehensive review. J Autism Dev Disord. 2015;45(7):1951–66.

    Article  Google Scholar 

  42. Smith T, Eikeseth SO. Ivar Lovaas: pioneer of applied behavior analysis and intervention for children with autism. J Autism Dev Disord. 2011;41(3):375–8.

    Article  Google Scholar 

  43. Linstead E, Dixon DR, French R, Granpeesheh D, Adams H, German R, et al. Intensity and learning outcomes in the treatment of children with autism spectrum disorder. Behav Modif. 2017;41(2):229–52.

    Article  Google Scholar 

  44. Orinstein AJ, Helt M, Troyb E, Tyson KE, Barton ML, Eigsti I-M, et al. Intervention for optimal outcome in children and adolescents with a history of autism. J Dev Behav Pediatr. 2014;35(4):247–56.

    Article  Google Scholar 

  45. Bearss K, Johnson C, Smith T, Lecavalier L, Swiezy N, Aman M, et al. Effect of parent training vs parent education on behavioral problems in children with autism spectrum disorder: a randomized clinical trial. JAMA. 2015;313(15):1524–33.

    Article  CAS  Google Scholar 

  46. Tager-Flusberg H, Kasari C. Minimally verbal school-aged children with autism spectrum disorder: the neglected end of the spectrum. Autism Res. 2013;6(6):468–78.

    Article  Google Scholar 

  47. Lord C, Elsabbagh M, Baird G, Veenstra-Vanderweele J. Autism spectrum disorder. Lancet. 2018;392(10146):508–20.

    Article  Google Scholar 

  48. El Achkar CM, Spence SJ. Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy. Epilepsy Behav. 2015;47:183–90.

    Article  Google Scholar 

  49. Ghacibeh GA, Fields C. Interictal epileptiform activity and autism. Epilepsy Behav. 2015;47:158–62.

    Article  Google Scholar 

  50. Miano S, Ferri R. Epidemiology and management of insomnia in children with autistic spectrum disorders. Pediatr Drugs. 2010;12(2):75–84.

    Article  Google Scholar 

  51. Cohen S, Conduit R, Lockley SW, Rajaratnam SM, Cornish KM. The relationship between sleep and behavior in autism spectrum disorder (ASD): a review. J Neurodev Disord. 2014;6(1):44.

    Article  Google Scholar 

  52. Blackmer AB, Feinstein JA. Management of sleep disorders in children with neurodevelopmental disorders: a review. Pharmacotherapy. 2016;36(1):84–98.

    Article  CAS  Google Scholar 

  53. Malow BA, Adkins KW, Reynolds A, Weiss SK, Loh A, Fawkes D, et al. Parent-based sleep education for children with autism spectrum disorders. J Autism Dev Disord. 2014;44(1):216–28.

    Article  Google Scholar 

  54. Tordjman S, Najjar I, Bellissant E, Anderson GM, Barburoth M, Cohen D, et al. Advances in the research of melatonin in autism spectrum disorders: literature review and new perspectives. Int J Mol Sci. 2013;14(10):20508–42.

    Article  Google Scholar 

  55. Malow B, Adkins KW, McGrew SG, Wang L, Goldman SE, Fawkes D, et al. Melatonin for sleep in children with autism: a controlled trial examining dose, tolerability, and outcomes. J Autism Dev Disord. 2012;42(8):1729–37.

    Article  Google Scholar 

  56. Loh AR, Chiang MF. Pediatric vision screening. Pediatr Rev. 2018;39(5):225.

    Article  Google Scholar 

  57. Swanson MW, Lee SD, Frazier MG, Bade A, Coulter RA. Vision screening among children with autism spectrum disorder. Optom Vis Sci. 2020;97(11):917–28.

    Article  Google Scholar 

  58. Buie T, Campbell DB, Fuchs GJ, Furuta GT, Levy J, VandeWater J, et al. Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report. Pediatrics. 2010;125(Suppl 1):S1–S18.

    Article  Google Scholar 

  59. Chaidez V, Hansen RL, Hertz-Picciotto I. Gastrointestinal problems in children with autism, developmental delays or typical development. J Autism Dev Disord. 2014;44(5):1117–27.

    Article  Google Scholar 

  60. Bandini LG, Anderson SE, Curtin C, Cermak S, Evans EW, Scampini R, et al. Food selectivity in children with autism spectrum disorders and typically developing children. J Pediatr. 2010;157(2):259–64.

    Article  Google Scholar 

  61. Sharp WG, Berry RC, McCracken C, Nuhu NN, Marvel E, Saulnier CA, et al. Feeding problems and nutrient intake in children with autism spectrum disorders: a meta-analysis and comprehensive review of the literature. J Autism Dev Disord. 2013;43(9):2159–73.

    Article  Google Scholar 

  62. Hyman SL, Stewart PA, Schmidt B, Lemcke N, Foley JT, Peck R, et al. Nutrient intake from food in children with autism. Pediatrics. 2012;130(Suppl 2):S145–53.

    Article  Google Scholar 

  63. Zuckerman KE, Hill AP, Guion K, Voltolina L, Fombonne E. Overweight and obesity: prevalence and correlates in a large clinical sample of children with autism spectrum disorder. J Autism Dev Disord. 2014;44(7):1708–19.

    Article  Google Scholar 

  64. Du RY, Yiu CK, King NM. Oral health behaviours of preschool children with autism spectrum disorders and their barriers to dental care. J Autism Dev Disord. 2019;49(2):453–9.

    Article  Google Scholar 

  65. Doehring P, Reichow B, Palka T, Phillips C, Hagopian L. Behavioral approaches to managing severe problem behaviors in children with autism spectrum and related developmental disorders: a descriptive analysis. Child Adolesc Psychiatr Clin. 2014;23(1):25–40.

    Article  Google Scholar 

  66. Chen C, Shen YD, Xun GL, Cai WX, Shi LJ, Xiao L, et al. Aggressive behaviors and treatable risk factors of preschool children with autism spectrum disorder. Autism Res. 2017;10(6):1155–62.

    Article  Google Scholar 

  67. Fitzpatrick SE, Srivorakiat L, Wink LK, Pedapati EV, Erickson CA. Aggression in autism spectrum disorder: presentation and treatment options. 2016.

    Google Scholar 

  68. Sukhodolsky DG, Scahill L, Gadow KD, Arnold LE, Aman MG, McDougle CJ, et al. Parent-rated anxiety symptoms in children with pervasive developmental disorders: frequency and association with core autism symptoms and cognitive functioning. J Abnorm Child Psychol. 2008;36(1):117–28.

    Article  Google Scholar 

  69. Vasa RA, Mazurek MO, Mahajan R, Bennett AE, Bernal MP, Nozzolillo AA, et al. Assessment and treatment of anxiety in youth with autism spectrum disorders. Pediatrics. 2016;137(Suppl 2):S115–23.

    Article  Google Scholar 

  70. Segers M, Rawana J. What do we know about suicidality in autism spectrum disorders? A systematic review. Autism Res. 2014;7(4):507–21.

    Article  Google Scholar 

  71. De-la-Iglesia M, Olivar J-S. Risk factors for depression in children and adolescents with high functioning autism spectrum disorders. ScientificWorldJournal. 2015;2015:127853.

    Article  Google Scholar 

  72. Ozonoff S, Young GS, Landa RJ, Brian J, Bryson S, Charman T, et al. Diagnostic stability in young children at risk for autism spectrum disorder: a baby siblings research consortium study. J Child Psychol Psychiatry. 2015;56(9):988–98.

    Article  Google Scholar 

  73. 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;55(5):485–94.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

    Aram Kim & Deepa S. Rajan

Authors
  1. Aram Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Deepa S. Rajan
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Deepa S. Rajan .

Editor information

Editors and Affiliations

  1. Department of Pediatrics, University of Texas Health Science Center, San Antonio, TX, USA

    Deepak M. Kamat

  2. Pediatrics and Neurology, Central Michigan University Children’s Hospital of Michigan, Detroit, MI, USA

    Lalitha Sivaswamy

Rights and permissions

Reprints and permissions

Copyright information

© 2022 The Author(s), under exclusive license to Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Kim, A., Rajan, D.S. (2022). Child with Suspected Autism. In: Kamat, D.M., Sivaswamy, L. (eds) Symptom-Based Approach to Pediatric Neurology . Springer, Cham. https://doi.org/10.1007/978-3-031-10494-7_4

Download citation

  • DOI: https://doi.org/10.1007/978-3-031-10494-7_4

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-031-10493-0

  • Online ISBN: 978-3-031-10494-7

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation