Autistic disorders: What can a physician do?

The prevalence of autism spectrum disorders has increased steadily over the years. A multidisciplinary panel from Children’s & Women’s Health Centre of British Columbia developed a clinical practice guideline for professionals participating in either a community assessment or multidisciplinary team assessment. The authors urge the government of BC and the Ministry for Children and Families to adopt this template, and more importantly, to provide a needs-based approach to resourcing communities across BC to meet this standard.

The Children’s & Women’s Health Centre presents a clinical practice guideline for family physicians and specialists for the diagnosis and assessment of autism spectrum disorders.


Autism spectrum disorders/pervasive developmental disorders are brain disorders characterized by deviant and delayed skills in socialization, communication, and behavior. Many affected children have sensory and cognitive impairment as well.[1,2] The prevalence has increased over the years from 4 to 5 per 10,000 to 1 in 500.[3,4] These markedly increased prevalence rates may reflect improved early screening, changes in the diagnostic criteria, and better identification of higher- and lower-functioning children. However, a real increase in prevalence cannot be ruled out. In addition, about 15% to 18% of children in North America have developmental or behavioral disabilities such as learning and language disorders, mental retardation, or social anxiety disorder.[5] It is estimated that a family physician may have several children with developmental disabilities or autistic spectrum disorders in his or her practice.

Increased public awareness of these conditions brings new challenges to physicians and professionals. The public can easily access thousands of Internet web pages on autism. Many sites provide simple questionnaires for self-diagnosis or describe convincing anecdotal reports for successful cures with or without scientific basis. Among many other things, physicians are expected to keep pace with all current knowledge. Professionals need to find time to help parents correctly identify the condition as early as possible. Appropriate intervention in the preschool years may provide a better chance of reducing the negative consequences of autism.

Autistic spectrum disorders are complex, biologically based developmental disorders. These disorders are genetically mediated dysfunction of the human brain and are not secondary to inappropriate parenting, as was once thought. Most experts agree that in addition to a diagnosis by physicians or psychologists with expertise in assessing young children, a multidisciplinary team assessment is advised. Standardized approaches and tests are needed to identify the cognitive, behavioral, and medical profile of the child so that optimum intervention and treatment can be prescribed. Many government-funded support services and educational programs are available, but most require a formal diagnosis by an experienced professional with knowledge of developmental disorders in young children.

The purpose of this article is to introduce a clinical practice guideline (Table 1) for physicians and specialists, promoted by BC’s Children’s Hospital and Sunny Hill Health Centre for Children, for diagnosis and assessment of autism spectrum disorders. The guideline was developed by a multidisciplinary panel of developmental pediatricians, child psychiatrists, clinical psychologists, a geneticist, and a neurologist from Children’s & Women’s Health Centre of British Columbia. There was additional input from community pediatricians, parents, and speech and language pathologists. It is based on the best practice model using a review of scientific literature [6-12] and our own clinical experience as a tertiary diagnostic clinic for autism in BC for more than 20 years. It recommends a two-tiered approach, simplified in the Figure.

Community assessment

The community assessment may be done by a front-line practitioner such as the family doctor, a community health nurse, or a general pediatrician. If there is any indication that the child is not meeting the normal developmental milestones—especially in speech, language, and social skills—more detailed developmental history and assessment are warranted. The red flags for autism [6] listed in Table 3 in the article "Screening for autism and pervasive developmental disorders in very young children" are useful to screen for autistic tendencies. It is important to arrange a hearing test to rule out hearing loss. Language delay is often the primary presenting concern. Screening by a community speech/language pathologist helps to identify the extent of the problem. Referral to a local general pediatrician is often helpful. He or she may carry out developmental and autism screenings and establish a working diagnosis. The GP or pediatrician may counsel the family, refer for team assessment, or arrange for treatment services. A physician’s referral is required for teams at Sunny Hill, BC’s Children’s Hospital, and Queen Alexandra.

Key services in BC are listed in Table 2. The Infant Development Program consultants provide support for children with special needs under 3 years of age and have good knowledge of local preschool and therapeutic services. Speech/language therapy and occupational/physical therapy are available at local health units or child development centres. A letter from a physician on behalf of the family to the Ministry for Children and Families may facilitate applications for services such as respite care, preschool placement, supported child care, after-school care, and behavior management counseling, if needed. Parents in distress often find talking to other parents helpful. Both the Community Living Society and the Autism Society of BC have a library full of information to share. They also organize parent support groups and publish regular newsletters.

Multidisciplinary diagnostic team assessment

The multidisciplinary diagnostic team assessment is ideally (but not exclusively) administered by a speciality team with experience in autism. If such a team is not available, it can be done in a serial fashion in the child’s community. It is important that a medical specialist be involved to look into the need for medical evaluations and laboratory investigations to identify possible etiology and associated medical conditions. It is not necessary to carry out all the sample tests listed. The selection should be individualized and based on findings from a physical examination and medical and family history. Other professionals with expertise in autism contribute by identifying the child’s diagnosis and developmental profile using the specific diagnostic tools and procedures.

Screening instruments are not designed for diagnostic purposes. For example, the Checklist for Autism in Toddlers, used by community professionals to identify children at risk for developing autistic-like developmental disabilities, is not very sensitive at diagnosing autism.[13] The use of additional standarized diagnostic instruments is required to further ensure the accuracy of diagnosis, to assess the child’s strengths and needs, and to facilitate the planning of a full treatment program.

A team conference with parents and community services providers is recommended to arrive at a consensus for a treatment plan based on the child’s strengths and weaknesses. A nurse clinician or a social worker may help parents apply for and connect with treatment services available in their community.

There are a number of intervention programs, preschools, and school services available to families. Behavioral therapy and speech/language therapy for children with autism spectrum disorders are funded, to a limited extent, by the BC government. Availability varies greatly around the province. Parents who would like to enroll their children in an intensive behavioral intervention program must purchase it privately at high cost. The Ministry for Children and Families is in the process of enhancing early intervention services for children under 6. Medication may be helpful in selected cases where there is extreme anxiety, violent behavior, or severe sleep disturbance. It requires careful titration of dosage by a physician familiar with psychopharmacology. Follow-up referral to subspecialists after team assessment may help if the diagnosis is unclear or there are issues of co-morbidity in complex cases.

About this guideline

This clinical practice guideline is only a guideline, one that can serve as a template for other child development or health centres to adopt or modify. It is not an attempt to be prescriptive; nor does it suggest that all children in the province of British Columbia should be assessed by a multidisciplinary team at Children’s & Women’s Health Centre. It is hoped that there may be many teams around the province. For example, in a small community, the pediatrician may work with the community health nurse and the staff of a local child development program to form a team. Some of these teams might be formal, others might just come together as necessary. What we are encouraging is a dialogue between the various professionals involved, each of whom will have something to contribute to the diagnosis and treatment in each case. We also understand that in many parts of the province, a definitive diagnosis may be made by a solo practitioner. Even in these situations, it is hoped that other professionals with experience will be involved.

This guideline was purposely constructed without reference to resources, but we hope that it represents the diagnostic standard for BC. It is consistent with both the Ministry of Health and Ministry for Children and Families’ direction of moving toward providing services based on best practice. In programs and jurisdictions where the resources are not available to meet this standard, we hope that proposals can be quickly forwarded to regional health boards and the Ministry for Children and Families to provide appropriate resources. The recent publication of the Autism Spectrum Disorder Provincial Resource Directory 2000 [14] by the ministry is a good start. Like all medical conditions, nonavailability of ideal resources should not impair the ability of individual practitioners to do their best with what is available.


We would like to thank Ms Selina Pope and Drs Linda Eaves, Bruce Bjornson, Susanne Lewis, Suzanne Jacobsen, Pratibha Reebye, Keith Marriage, Anton Miller, and Maureen O’Donnell for their contributions.

Table 1.  Clinical guideline for the diagnosis and assessment of autism spectrum disorders/pervasive developmental disorders.


Community assessment

Multidisciplinary team assessment

Service provider

° General practitioner
° General pediatrician
° Community health nurse

The multidisciplinary team should include:
A) One or more medical professionals with specialized training/skills in developmental pediatrics, developmental neuropsychiatry, or developmental neurology; and
B) One or more other professionals with expertise in autism, such as a psychologist, a speech/language pathologist, or an occupational therapist 
All testing from the community assessment section should be completed.

Assessment tools

° Physical exam
° Developmental history
- Communication
- Socialization
- Repetitive stereotyped behavior
- Sensory response
° Screening tools (birth-6 years) (e.g., PDDST, CHAT, other)
° Developmental assessment (birth-6 years) (e.g., Gesell, Denver II, PEER)

° Autism assessment tools (two or more), (e.g., DSM-IV, CARS, ADI-R, ABC, ADOS)
° Birth history/family history
° Assessment of:
- Social skills
- Behavior 
- Adaptive behavior
- Cognitive ability 
- Communication skills
- Neuromotor function 
- Educational level
- Physical exam (to include weight, height, head circumefrence, vision screen, dysmorphic features)

Medical evaluations/laboratory tests

° Vision test
° Speech/language screen
° Audiology screen (rule out hearing loss)

° ± Genetic screen (e.g., karyotype, FragileX study)
° ± Audiology asessment (e.g., ABR, OAE)
° ± Metabolic screen (e.g., amino acids, organic acids, thyroid, lactate, pyruvate, carnitine, uric acids)
° Neurological investigations as indicated:
± EEG (sleep deprived); ± Neuroimaging (CT scan, MRI)
° ± Other tests may include allergy/immune parameters, antigliadin antibodies, trace metals, (e.g., lead)

Diagnostic formulation

° Establish a working diagnosis, such as:
- Developmental delay
- Behavioral problems
- Speech/language delay
- Autistic spectrum disorder/pervasive developmental disorder
- Other

° Review and integrate multidisciplinary findings, ideally at a team conference, and identify an integrated case manager.
° Identify potential predisposing factors and associated medical conditions.
° Establish working differential or definitive diagnosis.
° As far as possible, the professionals should collaborate to provide parents with a consensus diagnosis and treatment plan.
° Identify the child's strengths and weaknesses.

Information sharing

° Recommend treatment interventions supportive of provisional diagnosis.
° Recommend referral for definitive diagnosis.
° Inform parents of supportive community resources and general information on provisional diagnosis.

° Provide family with current knowledge of developmental course and prognosis, at least short term.
° Provide information and counseling on medical and genetic aspect of autism.
° Help parents identify services and supports in the community (such as the Ministry for Children and Families).
° Provide references and reading material.
° Communicate with community professionals and share reports (with parents' consent).
° Collaborate with parents to develop recommendations and a treatment plan based on the child's profile and community availability. Parents must be informed of the range of options, varying opinions, and the degree of scientific validation regarding treatments.

Treatment options

° Early intervention programs*
° Speech/language therapy
° Occupational therapy
° Family support programs (e.g., respite)
° Appropriate parent support groups
° Other

° Speech and language therapy/consultation
° Preschool/school
° Behavioral therapy
° Medication
° Parent support
° Specialized educational resources
° Sexuality and life skills
° Social skills and peer integration
° Leisure and recreation
° Occupational therapy
° Other

Further consultations and follow-up

° General practitioner
° Community pediatrician
° Community psychiatrist

Continuity of care must be provided in all cases†

To clarify differential diagnosis or explore issues of co-morbidity (clinicians should counsel families about these referrals):
° Developmental pediatrician
° Autism speciality team
° Child and adolescent psychiatrist
° Geneticist
° Neurologist
° Psychologist
° Other

There may be circumstances where a provisional diagnosis is necessary, such as age or ability to cooperate, until all assessments can be obtained.
Treatment, especially in the initial phases, need not be deferred until all aspects of the definitive diagnosis are completed, but all efforts should be made to complete the full assessments as quickly as resources allow.
*Infant development program [birth-3 years], child development centre, preschool [3-6 years], supported child care. 
†The physician or team must identify somebody responsible for ongoing care in the community. As with management of any chronic health condition, regular follow-up is recommended.

Table 1 (Continued). Glossary of symbols and terms.








CT scan

Denver II









Consider at the discretion of clinician's clinical judgment

Autism Behavior Checklist

Auditory brain response

Autism Diagnostic Interview—Revised

Autism Diagnostic Observation Scale

Childhood Autism Rating Scale

Checklist for Autism in Toddlers

Computerized tomography scan

Denver Development Screening Test II

Diagnostic and Statistical Manual of Mental Disorders, 4th edition


Gesell Developmental Assessment

Infant development program

Magnetic resonance imaging

Otoacoustic emission

Pervasive Developmental Disorder Screening Test

Pediatric Examination of Early Education Readiness

Table 2. Resources for families of children with possible or diagnosed autism spectrum disorder.

Multidisciplinary diagnostic centres
Sunny Hill Health Centre for Children: Autism Spectrum Resource Team 
Queen Alexandra Centre for Children’s Health: Co-ordinated Intake Services 
BC’s Children’s Hospital, Department of Psychiatry 
(psychiatric assessment only) 

Support services
Ministry for Children and Families, Vancouver 

Autism Society of BC 

Infant Development Program 
Child Development Centres 
Community Living Society 
Developmental Disabilities Association 
Provincial Outreach Program for Autism and Related Disorders (Ministry of Education) 

Provincial behavior consulting services
CBI Consultants 
Gateway Behavioral Support Services

Laurel Group 

Vancouver Island Community Support

(604) 453-8300
(250) 477-1826

(604) 875-2010

(604) 660-2421 
1 800 663-7867 
(604) 434-0880
(250) 714-0801
(250) 963-7926 (604) 822-4014 (604) 205-9455 (604) 451-8699
(604) 273-9778 Contact child’s school 

(604) 469-2727 (604) 946-2422
(250) 352-6026
(604) 298-3434
(250) 595-4998
(250) 334-0860


1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders IV-TR. 4th ed. Washington, DC: American Psychiatric Association, 2000. 
2. Kope T, Eaves LC, Ho HH. Screening for autism and pervasive developmental disorder in very young children. BC Med J 2001;5:266-271. 
3. Bryson SE. Brief report: Epidemiology of autism. J Autism Dev Disord 1996;26:165-167.[PubMed Citation] 
4. Gillberg C, Steffenburg S, Schaumann H. Is autism more common now than 10 years ago? Br J Psychiatry 1991;158:403-409.[PubMed Abstract] 
5. Glascoe FP. Early detection of developmental and behavioral problems. Pediatr Rev 2000;21:272-280.[PubMed Citation] 
6. Filipek PA, Accardo PJ, Baranek GT, et al. The screening and diagnosis of autistic spectrum disorders. J Autism Dev Disord 1999;29:439-484.[PubMed Abstract] 
7. CAN Consensus Group. Autism screening and diagnostic evaluation: CAN consensus statement. CNS Spectrums 1998;3:40-49. 
8. American Academy of Child and Adolescent Psychiatry. Practice parameters for the assessment and treatment of children, adolescents, and adults with autism and other pervasive developmental disorders. J Am Acad Child Adolesc Psychiatry 1999;38(12 Suppl):32S-54S.[PubMed Abstract] [Guideline Summary] 
9. New York State Department of Health Early Intervention Program. Clinical Practice Guideline: The Guideline Technical Report Autism/Pervasive Developmental Disorders, Assessment and Intervention for Young Children (Age 0–3 Years). New York State Department of Health, 1999. Publication No. 4217. 
10. Gillberg C. Medical work-up in children with autism and Asperger syndrome. Brain Dysfunction 1990;3:249-260. 
11. Lord C, Risi S, Lambrecht L, et al. The Autism Diagnostic Observations Schedule—Generic: A standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000;30:205-223.[PubMed Abstract] 
12. Rapin I. Autism. N Engl J Med 1997;337:97-104.[PubMed Citation] 
13. Baird G, Charman T, Baron-Cohen S, et al. A screening instrument for autism at 18 months of age: A 6-year follow-up study. J Am Acad Child Adolesc Psychiatry 2000;39:694-702.[PubMed Abstract] 
14. BC Ministry for Children and Families. Autism Spectrum Disorder Provincial Resource Directory 2000. HV 3008 CA97. autism/autism_2.htm (2000;retrieved 23 April 2001) 

Helena H. Ho, MD, FRCPC, and Derryck H. Smith, MD, FRCPC

Dr Ho is a clinical professor in the Department of Pediatrics, UBC, and team leader of the Autism Spectrum Resource Team at Sunny Hill Health Centre for Children. Dr Smith is a clinical professor and head of the Division of Child and Adolescent Psychiatry at UBC’s Department of Psychiatry at Children’s & Women’s Health Centre of British Columbia and regional child and youth psychiatrist for the Vancouver-Richmond Health Board.

Helena H. Ho, MD, FRCPC, Derryck H. Smith, MD, FRCPC. Autistic disorders: What can a physician do?. BCMJ, Vol. 43, No. 5, June, 2001, Page(s) 272-276 - Clinical Articles.

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