Paediatrics & Child Health, 2019, 444–451

doi: 10.1093/pch/pxz117
Position Statement

Position Statement

Standards of diagnostic assessment for autism spectrum disorder

Jessica A. Brian, Lonnie Zwaigenbaum, Angie Ip
Canadian Paediatric Society, Autism Spectrum Disorder Guidelines Task Force, Ottawa, Ontario
Correspondence: Canadian Paediatric Society, 100–2305 St Laurent Blvd, Ottawa, Ontario K1G 4J8.
E-mail, info@cps.ca, website www.cps.ca

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All Canadian Paediatric Society position statements and practice points are reviewed regularly and revised as needed.
Consult the Position Statements section of the CPS website www.cps.ca/en/documents for the most current version.
Retired statements are removed from the website.

Abstract
The rising prevalence of autism spectrum disorder (ASD) has created a need to expand ASD diagnostic
capacity by community-based paediatricians and other primary care providers. Although evidence
suggests that some children can be definitively diagnosed by 2 years of age, many are not diagnosed
until 4 to 5 years of age. Most clinical guidelines recommend multidisciplinary team involvement in the
ASD diagnostic process. Although a maximal wait time of 3 to 6 months has been recommended by
three recent ASD guidelines, the time from referral to a team-based ASD diagnostic evaluation com-
monly takes more than a year in many Canadian communities. More paediatric health care providers
should be trained to diagnose less complex cases of ASD. This statement provides community-based
paediatric clinicians with recommendations, tools, and resources to perform or assist in the diagnostic
evaluation of ASD. It also offers guidance on referral for a comprehensive needs assessment both for
treatment and intervention planning, using a flexible, multilevel approach.

Keywords: Autism spectrum disorder; Diagnostic evaluation; Intervention planning

WHO SHOULD CONDUCT THE ASD
DIAGNOSTIC ASSESSMENT?
In most provinces and territories, only physicians or psychologists
are licensed to diagnose autism spectrum disorder (ASD) (1). In
some communities, appropriately trained nurse practitioners may
also make this diagnosis. Emerging evidence suggests that a trained
sole practitioner can diagnose less complex cases of ASD (1–4), yet
most clinical guidance documents recommend a team-based ap-
proach, led by a primary care provider, paediatric specialist, or clin-
ical child psychologist who is trained to diagnose ASD (1,3–15).
THREE APPROACHES TOWARD AN ASD
DIAGNOSTIC EVALUATION
Children with suspected ASD are often first identified by a
paediatrician, family physician, parent, or another caregiver,
and can present with a wide range and severity of symptoms.
Received: January 8, 2019; Accepted: March 27, 2019
© Canadian Paediatric Society 2019. Published by Oxford University Press on behalf of the Canadian Paediatric Society. All rights reserved. 444
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A ‘one-size-fits-all’ multidisciplinary team diagnostic approach is
inefficient, and contributes to long wait times (1,16). This state-
ment proposes three ASD diagnostic approaches, the choice of
which depends upon the paediatric care provider’s clinical expe-
rience and judgment, and the complexity of symptom presenta-
tion (8–15) and/or psychosocial history (Figure 1). Regardless
of the approach taken, open communication, collaboration, and
consent to share information among professionals may help to
achieve diagnostic accuracy and avoid duplication of effort.
Approach 1
When a child’s symptoms clearly indicate ASD, an experienced
or trained sole paediatric care provider can independently diag-
nose ASD, based on clinical judgement and DSM-5 criteria (17),
with or without data obtained using a diagnostic assessment tool
(Table 1). However, this approach is not sufficient for accessing
specialized services in some Canadian jurisdictions (1).
Paediatrics & Child Health, 2019, Vol. 24, No. 7 445

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Figure 1. Algorithm and components of an autism spectrum disorder diagnostic assessment.

Approach 2 may prolong wait times unnecessarily. Diagnostic delays can

In the shared care model, a clinician has joint responsibility with
another health care provider for patient care, which involves
exchanging patient information and clinical knowledge. When
a child’s symptom presentation is milder, atypical, or complex,
or a child is under 2 years of age, a paediatric care provider may
use information from an ASD diagnostic assessment tool, and
consult with another health care professional with specialized
knowledge (e.g., a psychologist) to inform a diagnosis.
Approach 3
In a team-based approach, diagnostic assessment is performed
by health care professionals in an interdisciplinary or a multi-
disciplinary team. While interdisciplinary teams work collabo-
ratively in an integrated, coordinated fashion, multidisciplinary
team members work independently from one another but
share information, and may (or may not) reach a diagnostic
decision by consensus. In some Canadian jurisdictions, only a
team-based diagnostic approach is accepted for accessing spe-
cialized services (1).
A community clinician may refer to an ASD diagnostic
team when a child’s presentation is subtle, or complicated by
co-existing health concerns, or when a child has a complex
medical or psychosocial history. Any of these factors can make
diagnostic determinations more difficult. Although diagnostic
certainty may be improved by drawing on specialists’ exper-
tise (3–15), this team approach is not always required and
be a barrier to early interventions, especially when some com-
munities have limited access to specialized services or teams
(1,2,16). However, multidisciplinary team evaluations can also
help to capture information for treatment or intervention plan-
ning, and to optimize access to supportive programs.
PURPOSE AND ESSENTIAL COMPONENTS
OF AN ASD DIAGNOSTIC ASSESSMENT
There are no diagnostic biomarkers for ASD. This condition is
diagnosed clinically, based on information gathered from a de-
tailed history, physical examination, and the observation of spe-
cific characteristic behaviours. Most guideline documents have
not offered a maximal acceptable wait time for diagnosis (8,11–
15), although three reputable guidelines recommend a 3- to
6-month interval between referral and assessment (6,7,10). An
expedited ASD diagnostic assessment, or a referral for one, fa-
cilitates earlier and potentially concurrent access to educational
interventions and community-based services. The three key ob-
jectives of the ASD diagnostic assessment are to:
1. Provide a definitive (categorical) diagnosis of ASD. In am-
biguous cases (e.g., milder presentation, under the age of 2),
a provisional diagnosis can be made, but the child must be
monitored carefully, and referred for further, in-depth evalu-
ation. In many jurisdictions, specialized ASD interventions
are not available to children with a provisional diagnosis.
Table 1.  Commonly used ASD diagnostic tools
446

Diagnostic tool Age group Time for completion Test performance (18) Test sample Comments
Behavioural observation (all available for purchase)
Autism Diagnostic 12 months to adult 45–60 minutes Se: 92–100% (3) ASD and non-ASD Social interaction, play,
Observation Schedule – 2nd Sp: 61–65% patients; clinical communication, behaviours and
edition (ADOS-2)* PPV: 80–84% sampling interests
NPV: 81–100%
Childhood Autism Rating Scale 2+ years 20–30 minutes Se: 89–94% (3) Clinically referred 15-item checklist. Incorporates
– 2nd edition (CARS-2)* Sp: 61–100% children information from parents
PPV: 71–100%
NPV: 46–56%
Parent/Caregiver interviews (all available for purchase)
Diagnostic tool Age group Time for completion Test performance (18) Test sample Comments
Autism Diagnostic Interview- 2 years to adult 1.5–3 hours Se: 53–90% (3) Clinically referred. High Social interaction, communication,
Revised (ADI-R)* Sp: 67–94% to low risk for ASD behaviours and interests. Mostly
PPV: 82–98% used for research
NPV: 26–68%
Social Responsiveness Scale – 2.5–4.5 years; 15–20 minutes Se: 75–78% 442 children with or 65 items: social awareness, cognition,
2nd edition (SRS-2); 4–18 years Sp: 67–94% without ASD communication and motivation,
preschool and school-aged PPV: 93% repetitive behaviours, and interests
versions
Diagnostic Interview for Social Any age Up to 3 hours Se: 96% (19) Children with Detailed, semi-structured interview,
and Communication Sp: 79% different levels of ID with a dimensional approach.
Disorders (DISCO)* Mostly used for research
Developmental, Dimensional 3+ years Up to 2 hours Se: 84–100% (3) Children with or without 740 items: demographics, intensity
and Diagnostic Interview Sp: 54–98% ASD of ASD symptoms, and potential
(3di)* (20) (Computerized) co-morbidities

Data drawn from references (8,9,14,17-20).

*Training is required to use all tools except for the SRS-2.
ASD Autism spectrum disorder; ID Intellectual disability; NPV Negative predictive value; PPV Positive predictive value; Se Sensitivity; Sp Specificity.
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Paediatrics & Child Health, 2019, Vol. 24, No. 7
2. Explore conditions or disorders that mimic ASD symptoms
and identify co-morbidities.
3. Determine the child’s overall level of adaptive functioning,
including specific strengths and challenges, and personal
interests, to help with intervention planning.
A family-centred approach is essential in the ASD diagnostic
process because a substantial amount of time and care is re-
quired to listen to and talk with parents and other family mem-
bers. Understanding the child’s family and medical history,
along with current behaviours and individual and family treat-
ment goals, is central to family-centred care. This approach
also requires flexible appointment scheduling and anticipating
potential barriers to health care access (e.g., socio-economic
adversity), as well as considering cultural and religious values
(8–10). When families and clinicians do not speak the same
language, involving interpretation services is essential for cul-
turally competent care.
The essential elements of an ASD diagnostic assessment are
described below.
STEP 1: RECORDS REVIEW
Most diagnosing clinicians begin by reviewing a child’s previous
records and interviewing parents and caregivers about their
concerns. This process is typically followed by taking a detailed
developmental history and scheduling an appointment for di-
rect observation and assessment.
Medical records to review
• Birth records and newborn screening results
• Routine well-child visits and any early concerns
• Medical tests completed, prior medical treatments, and
medication history
• Specialist evaluations
• Hospitalization history
Other records to review
• Developmental evaluations, including ASD screening
• Other assessments (e.g., hearing, vision, speech-language,
psychological, functional behavioural [i.e., the reasons for
challenging behaviours], or occupational therapy)
• Other care provider information (e.g., child care staff or
teacher observations)
• Educational records (when age-appropriate and available)
STEP 2: INTERVIEWING PARENTS, FAMILY
MEMBERS, OR OTHER CAREGIVERS
Information is obtained by asking semi-structured, open-ended
questions, and may be integrated with information from a
447
standardized questionnaire completed before or during the in-
terview. Topics include:
• Reasons for referral, and when concerns first emerged
• Pregnancy, birth history, labour, with any delivery or other
complications
• Child’s developmental and behavioural history (refer to
baby books and home videos, when available)
• Child’s current developmental functioning and behaviours
• Child’s medical history, with focus on ASD-associated diffi-
culties, such as sleep problems, unusual diet, self-injury
• Child’s early intervention and educational history, when
available
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• Family medical and mental health history, spanning three
generations, if possible. Inquire into any history of develop-
mental disability, including ASD, learning difficulty, behav-
ioural problems, as well as genetic conditions. Include psy-
chosocial history, with focus on family violence or trauma,
substance abuse, or neglect
• Family functioning, strengths, routines, and resources. Con-
sider possible reactions to an ASD diagnosis, along with in-
dividual and family goals
STEP 3: ASSESSMENT FOR CORE
FEATURES OF ASD
This step involves observing and interacting with the child to
assess social interaction and communication abilities. Inquire
about or observe for patterns of behaviour or interests, with
focus on DSM-5 diagnostic criteria for ASD (17). Behavioural
observation in multiple settings is preferred (e.g., clinic, home,
or child care), but most assessments occur in clinical settings.
An ASD-specific diagnostic tool may also be used.
Commonly used ASD-specific diagnostic tools
There are two broad categories of ASD diagnostic tools: those
based on coding observations and direct interactions with the
child (e.g., ADOS-2, CARS-2) (3,18,21), and those based on
parent or caregiver interviews (e.g., ADI-R) or questionnaires
(e.g., SRS-2) (3,21,22). Findings from an ASD diagnostic as-
sessment tool cannot be used alone to diagnose ASD (3).
Rather, results should complement the diagnostic process and
inform clinical judgement. Clinically useful ASD diagnostic
assessment tools have a sensitivity (i.e., they correctly identify
children with ASD) and specificity (i.e., they correctly identify
children without ASD) of at least 80%. Common age-specific
ASD diagnostic tools are summarized in Table 1 (8,9,14,17-20).
The most recent Cochrane review of ASD diagnostic tools for
preschoolers found that the ADOS has the highest sensitivity
and comparable specificity to the CARS and ADI-R (22). In
some jurisdictions, the ADOS and ADI-R are required to in-
form ASD diagnosis (2,5).
448
STEP 4: COMPREHENSIVE PHYSICAL
EXAMINATION AND ADDITIONAL
INVESTIGATIONS
The physical exam assesses whether there are medical causes or as-
sociations with the child’s behavioural presentation. Findings can
help to guide treatment and intervention planning and include:
• Height and weight
• Head circumference (20% of individuals with ASD are
macrocephalic)
• Skin examination for signs of neurofibromatosis or tuberous
sclerosis (e.g., using Wood’s lamp)
• Neurological examination
• Congenital anomalies and dysmorphic features (e.g., large or
prominent ears)
• Hearing and vision assessment with referral to audiologist,
optometrist, or ophthalmologist, as needed
• Only if clinically indicated, laboratory testing or further in-
vestigations may include:
◦ Electroencephalogram (EEG) (e.g., for seizures)
◦ Magnetic resonance imaging (MRI) (e.g., for microceph-
aly, seizures, abnormal neurological exam)
◦ Metabolic testing (e.g., for cyclic vomiting, lethargy with
minor illness, developmental regression, and seizures) (23)
◦ Chromosomal microarray genetic testing should be
offered for any children with a developmental disability,
dysmorphic features, or congenital anomaly (24,25)
◦ Blood lead levels, when the child exhibits developmental
delay or pica, or lives in a high-risk environment
STEP 5: CONSIDER DIFFERENTIAL
DIAGNOSES AND CO-OCCURRING
CONDITIONS
When making an ASD diagnosis, it is important to consider
other disorders that might overlap or mimic ASD symptoms.
Table 2 summarizes common differential diagnoses that may
also co-occur with ASD.
STEP 6: ESTABLISHING AN ASD
DIAGNOSIS
A trained clinician uses DSM-5 criteria along with clinical judg-
ment to differentiate ASD from other developmental disorders
(1). For a description of DSM-5 criteria, see Table 1 on pg 425,
Early Detection for Autism Spectrum Disorder, in the com-
panion statement published in this issue.
STEP 7: COMMUNICATING ASD
DIAGNOSTIC ASSESSMENT FINDINGS
Ideally, both parents and the child (when age and otherwise
appropriate) should be invited for a face-to-face appointment
shortly after the ASD diagnostic evaluation. This visit should be
Paediatrics & Child Health, 2019, Vol. 24, No. 7
Table 2.  Common differential diagnoses and co-occurring condi-
tions in ASD (10,14)
Neurodevelopmental disorders
Attention-deficit hyperactivity disorder
Global developmental delay or intellectual disability
Language or learning disorder
Social (pragmatic) communication disorder*
Stereotypic movement disorder
Tourette’s disorder or a tic disorder
Mental/Behavioural disorders
Anxiety disorders
Conduct disorder
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Depressive disorders
Disruptive mood dysregulation disorder
Obsessive compulsive disorder
Oppositional defiant disorder
Reactive attachment disorder
Schizophrenia
Selective mutism
Genetic conditions
Fragile X syndrome
Rett syndrome
Other genetic variants (e.g., 16p11 deletion) and genetic
syndromes**
Neurological and other medical conditions
Cerebral palsy
Epilepsy
Landau-Kleffner syndrome
Mitochondrial disorders
Neonatal encephalopathy
*Social (pragmatic) communication disorder and ASD are
mutually exclusive.
**There are many other chromosomal abnormalities and genetic
syndromes associated with ASD (26)
ASD Autism spectrum disorder.
conducted in the family’s primary language, using an interpreter if
necessary, with discussion of assessment findings, prognosis, and
recommended supportive resources. When an in-person appoint-
ment is not possible due to remote location or travel restrictions, a
telephone- or video-conference should be arranged instead.
This appointment must be handled in a sensitive, supportive
manner. Parents should be given time to process the information
being given and to ask questions, without distractions or inter-
ruptions. Asking parents what questions they have (rather than
if they have questions) is one helpful way to open a conversation.
When both parents are involved in the child’s care, they should be
present together for the feedback meeting. A lone parent should
be encouraged to bring a support person to this appointment.
The information below should be provided verbally and as
part of a comprehensive, informative written report, with terms
and references suitable for a lay audience.
Paediatrics & Child Health, 2019, Vol. 24, No. 7
• A clear statement confirming that the child does (or does not)
have ASD (e.g., ‘[Child’s name] meets DSM-5 criteria for a diag-
nosis of ASD’). Avoid indirect language (e.g., ‘[Child’s name’s]
behaviour is consistent with a diagnosis of ASD’) because it can
be confusing. In some cases, a provisional diagnosis may be ap-
propriate, especially when targeted local services are available.
• The reasons for the referral, and the child’s relevant develop-
mental and family history.
• Summary of pre-evaluation test results, and a review of all
relevant records.
• Summary from the family interview and direct observations
of the child that support the ASD diagnosis.
• Description of the diagnostic tools used, and clinicians who
conducted the evaluation.
• Description of how the child’s presenting symptoms, behav-
iours, and history meet DSM-5 criteria.
• Co-occurring or suspected conditions that have been identi-
fied, diagnosed, or require further investigation.
• Current functioning levels and recommended supports.
◦ Referrals for services, with individualized intervention
recommendations based on the child’s needs
◦ Recommended additional assessments, when needed
◦ Resources for parents (e.g., information about ASD, sup-
port and parent advocacy groups, funding opportunities)
and siblings, and a follow-up plan.
Sharing documents
Share the written report with the child’s family, the referring
physician, other health care providers, and educational profes-
sionals who are involved with the child’s care plan, with appro-
priate consents.
What to do when a categorical ASD diagnosis cannot
be determined at the time of assessment.
When a diagnosis is unclear, consider:
• Gathering additional information from other sources.
• Observing the child in a different setting (e.g., home, child care).
• Obtaining a second opinion from a specialized tertiary ASD
team.
• Conducting a repeat assessment (e.g., after initiation of ther-
apy or school entry) to clarify potential diagnoses. When
children have developmental concerns that do not meet
ASD criteria, they should be referred for further assessment
and for services that address these concerns.
STEP 8: COMPREHENSIVE ASSESSMENT
FOR INTERVENTION PLANNING
After a child has been diagnosed with ASD, the paediatric
clinician’s role is to ensure that a comprehensive needs assess-
ment for treatment and intervention planning is considered,
449
when this step was not part of initial diagnostic evaluation. This
may involve advocating for further assessment if it appears that
a lack of clarity about the child’s functioning may undermine
effective planning. This assessment may recur or be revisited at
different points throughout child or adolescent development,
and in many cases will occur within the context of the child’s
educational or treatment program. Understanding overall levels
of functioning in several domains, including strengths, skills,
challenges, and needs, helps with developing effective, individu-
alized treatment and management planning. Such plans should
also consider both individual and family concerns, priorities,
and resources. The needs assessment may evaluate:
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• Cognitive and academic functioning
• Speech, language, and communication skills
• Sensory and motor functioning, and sensory sensitivities
• Adaptive functioning (e.g., self-help skills)
• Behavioural and emotional functioning (e.g., anxiety,
self-esteem issues)
• Physical health and nutrition
The extent of comprehensive assessment for intervention plan-
ning is influenced by the approach used for initial ASD diag-
nostic evaluation.
Approach 1
Diagnostic evaluations conducted by a sole paediatric care pro-
vider tend to focus on the core domains of ASD. Therefore, re-
ferral to an interdisciplinary team or to multiple professionals
for a comprehensive needs assessment may be required, partic-
ularly when planning will not be conducted in the context of a
child’s educational or treatment program.
Approach 2
Diagnostic evaluations carried out with a shared care partner
can provide additional information for intervention planning
(e.g., insight into cognitive functioning). Further referrals may
only be needed to understand additional areas of functioning
(e.g., sensory or motor), if indicated.
Approach 3
When a child is evaluated by a multidisciplinary team, diag-
nostic evaluation and assessment for intervention planning are
more likely to occur concurrently. Additional assessments may
or may not be necessary.
OTHER CONSIDERATIONS IN
DIAGNOSTIC EVALUATION
Age
Although a definitive diagnosis for ASD is possible in children
under 2  years of age, this can be challenging. Children this
450
young often exhibit symptoms that are subtle or less distin-
guishable from other developmental delays—or even from
typical development (8,10). Very young children who receive
a provisional ASD diagnosis will need a timely follow-up evalu-
ation or referral for further assessment because their symptoms
can change substantially during development (27). The impor-
tance of confirming or ruling out an ASD diagnosis as early as
possible cannot be overstated.
Sex
ASD is diagnosed four times more frequently in boys than girls
(27). In younger siblings of children with ASD, the boy:girl
ratio is approximately 3:1 (28). When symptoms are equally
severe, boys are more likely to be diagnosed. Gendered differ-
ences in symptom presentation may contribute to later diag-
nosis in girls (8–10). Also, the evidence suggests that girls are
better able to ‘camouflage’ symptoms and use compensatory
strategies to overcome communication and social difficulties
(13). Clinicians should be aware that girls are probably under-
diagnosed for ASD (29,30).
Culture and language
Current evidence further suggests that children from racial or
ethnic minorities are diagnosed later than their peers in the
general population (6,8,22). It is unclear the extent to which
this disparity is attributable to limited access to diagnostic
services, interpretation of symptoms by families, health care
system-related factors (14), or an interplay thereof. Cultural
factors can impact many aspects of health care, including how
ASD is understood, interpreted, and accepted in different com-
munities. Cultural factors may, in turn, affect help-seeking be-
haviours (31).
Rural or remote regions
Children living in rural or remote communities receive an
ASD diagnosis later than peers living in urban areas (6,8,32).
Shared care between a local primary care provider and ASD
specialist(s) further away can be facilitated through telehealth
(especially video-conferencing services) and by itinerant de-
velopmental clinics which travel to rural or remote areas on a
seasonal schedule (6,8,32).  Capacity building in underserved
communities should be a priority.
NEXT STEPS FOLLOWING A CONFIRMED
ASD DIAGNOSIS
When an ASD diagnosis has been confirmed, a community-
based paediatrician or primary care provider plays a vital role
in supporting both child and family. Physicians provide routine
health care, manage co-occurring medical conditions, and co-
ordinate care among medical, educational, community, and so-
cial care professionals. For additional information on condition
Paediatrics & Child Health, 2019, Vol. 24, No. 7
management, read the companion statement published in this
issue, including links to online resources.
Funding: Production of these guidelines has been made possible
through funding from the Public Health Agency of Canada. The views
expressed herein do not necessarily represent the view of the Public
Health Agency of Canada.
Potential Conflicts of Interest: Dr. Zwaigenbaum reports personal fees
from Roche - Independent Data Monitoring Committee (iDMC), out-
side the submitted work. There are no other disclosures. All authors
have submitted the ICMJE Form for Disclosure of Potential Conflicts
of Interest. Conflicts that the editors consider relevant to the content of
the manuscript have been disclosed.
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CANADIAN PAEDIATRIC SOCIETY AUTISM SPECTRUM DISORDER GUIDELINES TASK FORCE

Members: Mark Awuku MD (CPS Community Paediatrics Section), Jessica Brian PhD (co-Chair), Susan Cosgrove, Pam Green NP,
Elizabeth Grier MD (College of Family Physicians of Canada), Sophia Hrycko MD (Canadian Academy of Child and Adolescent
Psychiatry), Angie Ip MD, James Irvine MD, Anne Kawamura MD (CPS Developmental Paediatrics Section), Sheila Laredo MD PhD
(Canadian Autism Spectrum Disorders Alliance), William Mahoney MD (CPS Mental Health Section), Patricia Parkin MD, Melanie
Penner MD, Mandy Schwartz MD, Isabel Smith PhD, Lonnie Zwaigenbaum MD (co-Chair)
Principal authors: Jessica A. Brian PhD, Lonnie Zwaigenbaum MD, Angie Ip MD