1. Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis
Ted Rosales, MD
6th Face Research Roundtable
September 9th 2005, Toronto, Ontario

2. 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),

3. Canadian FASD Guidelines (Authors in photo: C. Loock, T. Rosales, J
Canadian FASD Guidelines (Authors in photo: C. Loock, T. Rosales, J. Cook, AB. Chudley, J. Conry) Missing in photo: N. LeBlanc

4. 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

5. 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.

6. Canadian FASD Guidelines Topics Outline
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

7. Canadian FASD Guidelines Maternal Alcohol History in Pregnancy
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.
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.
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.

8. Canadian FASD Guidelines
Early Diagnosis is paramount

9. Canadian FASD Guidelines Risk Factors
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 BLOOD-ALCOHOL 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.

10. Canadian FASD Guidelines Key domains assessed for CNS deficit
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
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

11. Canadian FASD Guidelines Differential Diagnosis
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

12. Canadian FASD Guidelines FASD Diagnostic Criteria
Criterion
FAS
P-FAS
ARND
Growth impairment
Yes 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 domains impaired
Prenatal alcohol exposure
Confirmed or unconfirmed
Confirmed

13. 4-digit diagnostic code ranks 2, 3 or 4 3 or 4 2 1,2, 3 or 4
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
FAS (without confirmed exposure) 2
Partial FAS (with confirmed exposure)
1,2, 3 or 4
ARND (with confirmed exposure)
1, 2, 3 or 4
1 or 2
(2 for<6 years)

14. 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:
Coordinator
Physician specifically trained in FASD diagnosis
Psychologist
Occupational therapist
Speech-language pathologist
Additional members may include addiction counsellors, childcare workers, parents or caregivers, probation officers, psychiatrists, teachers, vocational counselors, nurses, geneticists or dysmorphologists, neuropsychologists, family therapists

15. 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.

16. 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

17. LARGE Project
Principal Basic Documents for the Project

18. LARGE Project Action Plan
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)

19. LARGE Project Labrador FASD Resource Center Forms
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

20. 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
11-15 3 10
1-SN-deafness
1-Soto syndrome
16-20
5 ^
2 (one expectant father)
21 plus
Total 69 29 5
^ 1-16 yr old MOM
@ 3-elderly MOMs
Likely FASD but need CNS eval.
# Significant intrauterine alcohol exposure

21. 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

22. 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.