Diagnostic Considerations

Criteria for the diagnosis of ASD are included in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), and the International Statistical Classification of Diseases and Related Health Problems, 10th Revision (ICD-10).^{[6, 136]}

Although the criteria for ASD differ between the DSM-5 and the ICD-10, they are both widely accepted and are used around the world by clinicians and researchers.

A discussion of the differences in the criteria for ASD and related conditions in the DSM-5, the ICD-10, and other nomenclatures is beyond the scope of this article. The key point for pediatricians and other clinicians is that the criteria for ASD and related conditions in the DSM-5 and the ICD-10 are presented in an outline form without a discussion of the terms used.

The DSM-5 and the ICD-10 are poor textbooks of child development and child psychopathology; they do not fully describe the concepts incorporated in the criteria for ASD and related conditions. Therefore, an inexperienced clinician is likely to incorrectly apply the criteria for ASD and related conditions in the DSM-5 and the ICD-10.

The diagnosis of Autism Spectrum Disorder in DSM-5 has 2 key criteria:^[6]

Impairments in social communication and social interaction
A restricted, repetitive range of interests, behaviors, and activities

Diagnostic error and clinician experience

To administer tools for the diagnosis of ASD and related conditions in a reliable and valid manner requires extensive training and experience. Therefore, unless they have wide experience with children with ASD and understand the concepts implicit in the diagnostic criteria and rating scales, pediatricians and other clinicians are advised to refer patients with possible ASD to experienced clinicians for definitive diagnostic evaluations.

Delayed diagnosis of ASD and related conditions is a serious problem, because early initiation of treatment increases the likelihood of a favorable outcome. Many parents report raising concerns to their pediatricians about the patient's development in the first months and years and being told only that the child will outgrow the problem.

Screening tests

Procedures are available for diagnostic screening by practicing pediatricians, including the Checklist for Autism in Toddlers (CHAT) and its revisions, the Modified CHAT (MCHAT) and the Quantitative CHAT (QCHAT).^{[123, 124]}Some items of the CHAT appear to have strong cultural biases that rule out the direct application of this instrument to populations outside the United Kingdom; however, cross-cultural adaptions of CHAT have been prepared.^[137]

However, the 3 items of the CHAT that are highly predictive of the development of ASD (ie, protodeclarative pointing, gaze monitoring, pretend play) can be quickly assessed by clinicians during well-baby visits (see Presentation for detailed descriptions of these items). Pediatricians can facilitate early diagnosis of ASD and related conditions by performing a screening procedure at every visit, including well-baby check-ups, school examinations, and immunization appointments.^[1]

Assessment of motor and self-care skills in children with ASD is recommended to address clumsiness and sensory issues.^[138]If a standardized test to assess sensory processing difficulties is warranted, one of the following tools is recommended:^[139]

Sensory Processing Measure - For children aged 5-12 years
Short Sensory Profile - For children aged 37 months to 9 years
Infant/Toddler Sensory Profile - For children aged 7-36 months

Cultural considerations

Of note are cultural considerations in the evaluation of a child with possible ASD. Cultural and familial differences exist in expectations regarding eye contact, play, social interaction, and pragmatic use of language. When English is not the family’s primary language, professionals should be conscious of finding ways to communicate effectively with the family, including finding professionals and/or translators who speak the primary language.^[140]

Other disorders

Other disorders to consider in the differential diagnosis of ASD are as follows:

44,XXX karyotype
47 chromosomes
(7;20) balanced chromosomal translocation
Angelman syndrome
Deletion 1p35
Duplication of bands 15q11-13
Extra bisatellited marker chromosome
Habit disorder
Infantile hydrocephalus
Interstitial deletion of (17)(p11.2)
Inv Dup (15)(pter->q13)
Language disorder - Mixed, phonologic, receptive, or stuttering
Long Y chromosome
Minamata disease
Moebius syndrome
Nonketotic hyperglycinemia (NKH)
Partial 6p trisomy
Epilepsy
Infantile spasms
Tourette disorder
Trisomy 22

Children with lead poisoning may demonstrate neurobehavioral changes. Constipation, abdominal pain, and/or anorexia are common. Lead poisoning in children at risk should be ruled out through appropriate testing.

Age of onset

ASD manifests in early childhood. For information about individuals with later onset of symptoms consistent with ASD, see the following articles:

Many parents report normal development in their child until age 2 years before noticing the deficits in social and communicative skills.

Differential Diagnoses

Anxiety Disorder: Obsessive-Compulsive Disorder
Anxiety Disorder: Trichotillomania
Attachment Disorders
Congenital Rubella Syndrome
Cornelia De Lange Syndrome
Cri-du-chat Syndrome
Dissociative Identity Disorder
Down Syndrome
Emergent Management of Lead Toxicity
Failure to Thrive
Fragile X Syndrome
Physical Child Abuse
Prader-Willi Syndrome
Rett Syndrome
Williams Syndrome

Workup

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Media Gallery

The significance of answers to individual Autism Screening Checklist items is as follows: Item 1- A "yes" occurs in healthy children and children with some pervasive developmental disorders; a "no" occurs in children with autism, Rett syndrome, and other developmental disorders. Item 2 - A "yes" occurs in healthy children, not children with autism. Item 3 - A "yes" occurs in healthy children and children with Asperger syndrome (ie, high-functioning autism); a "no" occurs in children with Rett syndrome; children with autism may elicit a "yes" or a "no"; some children with autism never speak; some children with autism may develop speech normally and then experience a regression with the loss of speech. Item 4 - A "yes" occurs in healthy children and children with Asperger syndrome and some other pervasive developmental disorders; a "no" occurs in children with developmental disorders; children with autism may elicit a "yes" or a "no." Items 5-10 - Scores of "yes" occur in some children with autism and in children with other disorders. Item 11 – A "yes" occurs in healthy children; a "no" occurs in some children with autism and in children with other disorders. Items 12, 13 - Scores of "yes" occur in some children with autism and in children with other disorders. Items 14-19 - Scores of "yes" occur in children with schizophrenia and other disorders, not in children with autism, Asperger syndrome, or other autism spectrum disorders. The higher the total score for items 5-10, 12, and 13 on the Autism Screening Checklist, the more likely the presence of an autism spectrum disorder.
Serotonin syndrome checklist.

of 2

Author

James Robert Brasic, MD, MPH, MS, MA Assistant Professor, Russell H Morgan Department of Radiology and Radiological Science and Neurology, Division of Nuclear Medicine and Molecular Imaging, Assistant Professor, Department of Neurology, Johns Hopkins University School of Medicine

James Robert Brasic, MD, MPH, MS, MA is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, American Academy of Neurology, International Parkinson and Movement Disorder Society, Society for Neuroscience, Society of Nuclear Medicine and Molecular Imaging

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Johns Hopkins University School of Medicine; New York City Health and Hospitals/Bellevue, New York University Langone Health<br/>Serve(d) as a speaker or a member of a speakers bureau for: Society of Nuclear Medicine and Molecular Imaging, Maryland Regional Council of Child and Adolescent Psychiatry<br/>Received research grant from: National Institutes of Health, Johns Hopkins University School of Medicine, Intellectual & Developmental Disabilities Research Center (U54 HD079123) at the Kennedy Krieger Institute<br/>Received income in an amount equal to or greater than $250 from: Gerson Lehrman Group; Guidepost<br/>Received royalty from Medscape for other.

Coauthor(s)

Ashley B Durbin, BS, BA

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Caroly Pataki, MD Health Sciences Clinical Professor of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, David Geffen School of Medicine

Caroly Pataki, MD is a member of the following medical societies: American Academy of Child and Adolescent Psychiatry, New York Academy of Sciences, Physicians for Social Responsibility

Disclosure: Nothing to disclose.

Additional Contributors

Farzaneh Farhadi, MD Postdoctoral Research Fellow, Johns Hopkins Hospital

Disclosure: Nothing to disclose.

Tarek Elshourbagy, MBBCh Intern, Kasr Alainy Medical School, Cairo University, Egypt; Research Physician, Department of Radiology, Johns Hopkins University School of Medicine

Disclosure: Nothing to disclose.

Acknowledgements

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Acknowledgments

This publication was made possible by the Johns Hopkins Institute for Clinical and Translational Research (ICTR) which is funded in part by Grant Number UL1 TR003098 from the National Center for Advancing Translational Sciences (NCATS), a component of the National Institutes of Health (NIH), and NIH Roadmap for Medical Research. Its contents are solely the responsibility of the authors and do not necessarily represent the official view of the Johns Hopkins ICTR, NCATS or NIH. This research is also supported by the Radiology Bridge Funding Initiative to Stimulate and Advance Research (RAD BriteStar Bridge) Award of the Johns Hopkins University School of Medicine and the Intellectual and Developmental Disabilities Research Center (U54 HD079123) at the Kennedy Krieger Institute of Johns Hopkins Medical Institutions in Baltimore, Maryland.