Fetal alcohol spectrum disorder:
Canadian guidelines for
diagnosis
Ted Rosales, MD
6th Face Research Roundtable
September 9th 2005, Toronto, Ontario
Fetal alcohol spectrum disorder:
Canadian guidelines for
diagnosis, CMAJ 2005; 172
(suppl):S1-S21
Identifying fetal alcohol spectrum
disorder in primary care, CMAJ, Mar. 1,
2005; 172 (5), 628-630
Canadian FASD Guidelines
(Authors in photo: C. Loock, T. Rosales, J. Cook, AB. Chudley, J. Conry) Missing
in photo: N. LeBlanc
Fetal Alcohol spectrum disorder: Canadian guidelines for diagnosis, Albert
E. Chudley, Julianne Conry, Jocelynn L. Cook, Christine Loock, Ted
Rosales, Nicole LeBlanc, CMAJ, 2005; 172 (5 suppl) S1-S21
Canadian FASD Guidelines
Objectives
 1.) Present an overview of the recently
published: Fetal alcohol spectrum disorder:
Canadian guidelines for diagnosis.
 2.) Present an overview of a recently
initiated FASD project in Labrador using the
guidelines as the template.
Canadian FASD Guidelines
Topics Outline
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Introduction
Epidemiology
Risks factors
Importance of early diagnosis
Process of guideline development
Background and terminology for the diagnosis of FAS
The diagnostic process:
Screening and referral
The physical examination and differential diagnosis
Treatment and follow-up
Maternal alcohol history in pregnancy
Diagnostic criteria for FAS, partial FAS and ARND
Harmonization of the Institute of Medicine (IOM) and 4-Digit Diagnostic Code approaches
Future research related to diagnostic guidelines
Emerging issues
Biomarkers
Remote and rural areas
Adult diagnosis
Conclusion
Canadian FASD Guidelines
Maternal Alcohol History in Pregnancy
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Prenatal alcohol exposure requires confirmation of alcohol
consumption by the mother during the index pregnancy based on
reliable clinical observation, self-report, reports by reliable source or
medical records documenting positive blood alcohol, alcohol treatment
or other social, legal or medical problems related to drinking during the
pregnancy.
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The number and type(s) of alcoholic beverages consumed (dose),
the pattern of drinking and the frequency of drinking should all be
documented if available.
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Hearsay, lifestyle, other drug use or history of alcohol exposure in
previous pregnancies cannot be , in isolation, be informative of drinking
patterns in the index pregnancy.
Canadian FASD Guidelines
 Early Diagnosis is paramount
Canadian FASD Guidelines
Risk Factors
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Higher maternal age and lower educational level
Prenatal exposure to cocaine and smoking
Custody changes
Lower socioeconomic status and paternal drinking and drug use at the
time of pregnancy
 Reduced access to prenatal and postnatal care and services
 Inadequate nutrition and a poor developmental environment (e.g.,
stress, abuse , neglect)
 MOST IMPORTANT RISK FACTOR IS RELATED TO HIGH BLOODALCOHOL CONCENTRATION: TIMING OF EXPOSURE DURING
FETAL DEVELOPMENT, THE PATTERN OF CONSUMPTION, I.E.,
BINGE DRINKING (4 OR MORE DRINKS PER OCCASION) AND THE
FREQUENCY OF USE.
Canadian FASD Guidelines
Key domains assessed for CNS deficit
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Hard and soft neurological signs
Brain structure (including microcephaly)
Cognition
Communication
Academic achievement
Memory
Executive functioning and abstract reasoning
Adaptive behaviour, social skills, social communication
Attention span, activity level, distractibility
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A deficit is defined as abnormality of 2 standard deviation below the mean. All domains are generally
assessed by registered psychologists, speech or language pathologists or occupational therapists
except neurological signs, which are assessed by specialists physicians or by the specialists already
listed
Canadian FASD Guidelines
Differential Diagnosis
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Aarskog syndrome
Brachman-delange or Cornelia deLange syndrome
Dubowitz syndrome
Fetal anticonvulsant syndrome
Maternal phenylketonuria (PKU) fetal effects
Noonan syndrome
Toluene embryopathy
Williams syndrome
Other chromosome deletion and duplication syndromes
Canadian FASD Guidelines
FASD Diagnostic Criteria
Criterion
FAS
P-FAS
ARND
Growth
impairment
Yes
No
No
Facial anomalies:
(1) Short palpebral
fissures; (2) Smooth
or flattened philtrum;
(3) Thin upper lip
All 3 are present
2 of the 3 are
present
None are
present
Brain injury
Minimum of 3 CNS Minimum of 3 CNS Minimum of 3 CNS
domains impaired domains impaired domains impaired
Prenatal alcohol
exposure
Confirmed or
unconfirmed
Confirmed
Confirmed
Canadian FASD Guidelines
Harmonization of Institute of Medicine (IOM) nomenclature and 4-digit
diagnostic code ranks for growth, face, brain and alcohol history
4-digit diagnostic code ranks
IOM
Nomenclature
Growth
deficiency
FAS facial
phenotype
CNS damage or
dysfunction
Geastational
exposure to
alcohol
FAS (with
confirmed
exposure)
2, 3 or 4
3 or 4
3 or 4
3 or 4
FAS (without
confirmed
exposure)
2, 3 or 4
3 or 4
3 or 4
2
Partial FAS (with
confirmed
exposure)
1,2, 3 or 4
2, 3 or 4
3 or 4
3 or 4
ARND (with
confirmed
exposure)
1, 2, 3 or 4 1 or 2
3 or 4
3 or 4
(2 for<6 years)
Canadian FASD Guidelines
Multidisciplinary Team
 Team can be geographic, regional or virtual; it can also accept referrals
from distant communities and carry out evaluation using telemedicine.
The core team may vary according to the specific context, but ideally
should consists of the following:
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Coordinator
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Physician specifically trained in FASD diagnosis
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Psychologist
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Occupational therapist
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Speech-language pathologist
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Additional members may include addiction counsellors, childcare workers, parents or
caregivers, probation officers, psychiatrists, teachers, vocational counselors, nurses,
geneticists or dysmorphologists, neuropsychologists, family therapists
Canadian FASD Guidelines
Treatment and Follow-up
 Education of the patient and family
members on features of FASD is crucial.
 A member of the diagnostic team should
follow-up outcomes.
 Diagnosed individuals and their families
should be linked to resources and services
that will improve outcome.
Labrador Alcohol Research Group
Enterprise (LARGE) Project
 A Primary Health Care Approach in
Labrador to deal with FASD, submitted to
the Office of Primary Health Care , August
4/04 by Andrea White, Michelle Kinney, and
Michael Jong
LARGE Project
 Principal Basic Documents for the Project
LARGE Project
Action Plan
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Diagnosis
Diagnostic Training
Training for other professionals
Training for frontline workers
Establish a multidisciplinary FASD Diagnostic Team
Development of a Data Collection System
Development of FASD Framework (Labrador)
LARGE Project
Labrador FASD Resource Center Forms
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1. Main Referral Information
A) Family/household situation---10 items
B) Parents/background---26 items with sub-items
C) Foster home---6 items
D) Child activities and behavior (for parents and foster parents and other guardians
as applicable)---9 items and the majority with sub-items
2. School Report (Daycare as applicable)---11 items with most with sub-items
3. Public Health Report---15 items with sub-items
4. MD forms
A) Summary report---11 items with some sub-items
B. Body outline (toddler/child), back can be use for notes
C. Written report/letter to parents/other responsible individuals/agencies as per valid
consent.
5. Consent to release information
LARGE Project
125 Individuals seen between April-June/05
Ages-Yr
FASD
L-FASD *
S-IUAE #
Others
0-5
15
13
11
1-3 mos. Flat head
pilonidal sinus
6-10
22
6
6 (one severe
school phobia)
1-phenotype like M
1-PHPPT
10
1-SN-deafness
1-Soto syndrome
11-15
22
3
16-20
5^
21 plus
5@
Total
69
22
29
^ 1-16 yr old MOM
@ 3-elderly MOMs
Likely FASD but
need CNS eval.
# Significant intrauterine
alcohol exposure
2 (one
expectant
father)
5
LARGE Project
Vision for the Future
 1) Preventing FASD
 2) Building a system of supports and
resources
 3) Meeting the needs of individuals with
FASD, their families and communities
Canadian FASD Guidelines and LARGE Project
Last Words
The Canadian FASD Guidelines is the suggested “Gold Standard”
but/nevertheless each community/province/territory should use it as a “Guide”
as intended depending on the available local resources.
The LARGE Project in Labrador is using it as the template/guide by drawing on the
available local resources with cooperation and recognition of common goals for
those affected and their families.