New Canadian Diagnostic
Guidelines for FASD
Research Challenges
Albert E. Chudley, M.D. and
Julie Conry, Ph.D.
Representing Health Canada’s National
Advisory Committee on FASD
Population and Public Health and First Nations and Inuit
Health Branches of HC
NAC Sub-committee on FAS
Diagnosis
Committee members are Albert
Chudley (co-chair), Jocelyn Cook,
(co-chair), Julianne Conry,
Christine Loock, Ted Rosales, and
Nicole LeBlanc.
Canadian FASD Guidelines
Following this session, the participant will be
provided :
A review of the reasons for guideline
development.
Highlights of research areas identified in
the process of guideline development
relevant to diagnosis.
A focused discussion on the area of
physical features and the brain
(neurodevelopment).
Background
 Health Professional survey data suggest that disabilities
related to prenatal alcohol exposure are under-diagnosed
 Health professionals do not feel prepared to care for affected
individuals and their families

Require more education and training
 Standardized diagnostic guidelines would be helpful for
increasing the knowledge and comfort levels of physicians
around identification and diagnosis and for gathering
information on FASD Nationwide
Canadian FASD Guidelines
Guidelines were based on a broad consensus of
expert practitioners and partners in the field.
Guideline development were initiated on the belief
that a standardized multidisciplinary approach to
diagnosis would result in the development of more
diagnostic teams, improved access to an
assessment, a facilitated diagnosis, enhanced care,
and collaborative research between centres.
A parallel process was initiated by the US CDC, in
which both parties participated and reciprocated.
Canadian FASD Guidelines
10 face to face meetings and several teleconference calls occurred over 2 years, involving
over 100 individuals representing a variety of
professions and organizations
Health Canada established an expert committee to
recommend National guidelines for identification
and diagnosis of FAS and its related disabilities
Guidelines drafted and accepted by Canadian
Medical Association Journal for publication
Canadian FASD Guidelines
Overview
Briefly reviews the current understanding
of etiology, epidemiology, differential
diagnosis and diagnostic criteria
Discusses the diagnostic process and
emphasized the need for a multidisciplinary
approach
Discusses screening and referral
Maternal Alcohol History in Pregnancy
Canadian FASD Guidelines
Overview
Recommends integration and harmonization of the
Institute of Medicine (language of diagnostic
categories) and the DPN 4-Digit Diagnostic Code
(adds rigor to clinical assessment).
Made recommendations on the physical and
dysmorphology assessment
Made recommendations on the neurodevelopmental assessment
Summarized the diagnostic criteria for FAS,
partial FAS, and ARND
When to Refer?
Referral of individuals for a possible FASD-related
diagnosis should be made in the following
situations:
presence of three characteristic facial features
(short palpebral fissures, smooth/flattened
philtrum, thin vermilion)
evidence of significant prenatal exposure to
alcohol at levels known to be associated with
physical and/or developmental effects
When to Refer?
 presence of 1 or more facial features with growth deficits
plus known or probable significant prenatal alcohol
exposure
 presence of 1 or more facial features with 1 or more central
nervous system deficits plus known or probable significant
prenatal alcohol exposure
 presence of 1 or more facial features with pre and/or postnatal growth deficits (< the 10th percentile: 1.5 standard
deviations below the mean)and 1 or more central nervous
system deficits plus known or probable significant prenatal
alcohol exposure
Physical Assessment
The purpose of the dysmorphology
assessment is to identify individuals with
features related to prenatal alcohol exposure
and also to identify those children with
dysmorphic features due to other causes.
Physical Assessment
A general physical and neurological
examination, including appropriate
measurements of growth and head size,
assessment of characteristic findings and
documentation of anomalies is required in
order to exclude the presence of other
genetic disorders or multifactorial disorders
that could lead to features mimicking FAS
or partial FAS.
Physical Assessment
Growth (height and weight) less than 1.5
SD below the mean or a disproportionately
low height to weight ratio. This must take
into account other variables that influence
growth (genetics, gestational diabetes, other
illnesses).
Physical Assessment
The three characteristic facial features that
discriminate individuals with and without FAS
are:
short palpebral fissures, < 3rd percentile (2
standard deviations below the mean)
 smooth/flattened philtrum, 4 or 5 on the 5-point
Likert scale of the Lip-Philtrum Guide
thin vermilion of the upper lip, 4 or 5 on the 5point Likert scale of the Lip-Philtrum Guide
Physical Assessment
Facial features should be measured in all
age groups. If a patient’s facial features
change with age, the diagnosis of the facial
features should be based on the point in
time when the features were most severely
expressed. When diagnosing adults, it can
be helpful to view childhood photographs.
Challenges in the Assessment of
Brain Function
At present no cognitive profile has been identified
that is unique to prenatal alcohol exposure and is
observed in all individuals with prenatal alcohol
exposure
The assessment of brain function is complicated
by variables such as mental health factors, socialeconomic factors, and disrupted family/home
environment that may affect development but do
not indicate brain damage.
Definition of Brain Dysfunction
Substantial deficiencies or discrepancies across
multiple areas of brain performance likely due to
underlying brain structure or function rather than
to adverse post-natal environmental experiences
Adapted from Astley and Clarren, 1999
Criteria for Determination of
Brain Damage/Dysfunction
Where standardized tests are used, scores 2
standard deviations or more below the mean,
in three domains, suggest organic impairment
Discrepancies of 1-2 standard deviations
between sub-domains suggest abnormal
brain development
In areas where standardized measurements
are not available, a clinical judgment of
“severely abnormal” is made
Domains for the Assessment of
Brain Function
Hard and Soft Neurological Signs
Brain Structure
Cognition
Communication
Academic Achievement
Memory
Executive Functioning and Abstract Reasoning
Attention Deficit/Hyperactivity
Adaptive Behavior/Social Skills/Social
Communication
Diagnostic Criteria
Pre-and/or
postnatal growth
impairment
Facial anomalies
CNS Domains
Impaired
Maternal alcohol
exposure
FAS
pFAS
ARND
Yes
No
No
All of the following:
2 of the following:
 Short palpebral fissures  Short palpebral
fissures
 Smooth/flattened
philtrum
 Smooth/flattened
philtrum
 Thin upper lip
 Thin upper lip
No
3
3
3
Confirmed or
unconfirmed
Confirmed
Confirmed
Harmonization of the Institute of
Medicine (IOM) Nomenclature and the 4Digit Diagnostic Code Ranks for Growth,
Face, Brain and Alcohol History
IOM
Nomenclature
Growth
Face
Brain
Alcohol
History
FAS (with
confirmed
exposure)
2,3,
or 4
3 or 4
3 or 4
3 or 4
*Partial FAS
(with
confirmed
exposure)
1,2,
3,or
4
3 or 4
2, 3
or 4
3 or 4
FAS
(without
confirmed
exposure)
2, 3
or 4
3 or 4
3 or 4
2
ARND (with
confirmed
exposure)
1,2,3
or 4
1 or 2
3 or 4
(2 for
< 6
yrs)
3 or 4
Research Questions Arising from
the Canadian FASD Guidelines
Need for growth and anthropometric norms
(palpebral fissure lengths, philtrum/lip shape) for
Canadians in all age groups, sub-populations and
ethno-cultural groups
Need for validation of screening tools that will
identify at risk individual and result in referral for
diagnosis, assessment, and treatment
Research Questions Arising from
the Canadian FASD Guidelines
Will the guidelines be used?
How can this use be evaluated?
If the guidelines are accepted and broadly used,
will their use improve access to care and prevent
primary and secondary disabilities related to
prenatal alcohol exposure?
How will more teams be trained and developed
with sustained funding?
Acknowledgements
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Fred Boland
Susan Astley
Sterling Clarren
Margaret Clarke and Suzanne
Tough
Canadian Diagnostic Centres
Health Canada
Health Canada’s National
Advisory Committee on FASD
Society of Obstetricians and
Gynecologists of Canada
Canadian Pediatric Society
Canadian Pediatric Health Centres
Canadian Pediatric Chairs
• Canadian Psychological
Association
• Canadian Psychiatric Association
• Aboriginal Nurses Association of
Canada
• Canadian Nurses Association
• Native Psychologists in Canada
• Canadian Association of Speech
Language Pathologists and
Audiologists
• Canadian Association of
Occupational Therapists
• Canadian Nurses Association
• US Task Force on FAS/FAE
• FAS Center of Excellence