New Canadian Diagnostic Guidelines for FASD Research Challenges

1. New Canadian Diagnostic Guidelines for FASDResearch 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

2. 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.

3. Canadian FASD GuidelinesFollowing 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).

4. 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

5. 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.

6. Canadian FASD Guidelines • 10 face to face meetings and several tele-conference 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

7. 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

8. 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 neuro-developmental assessment • Summarized the diagnostic criteria for FAS, partial FAS, and ARND

9. 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

10. 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 post-natal 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

11. 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.

12. 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.

13. 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).

14. 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 5-point Likert scale of the Lip-Philtrum Guide

15. 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.

16. 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, social-economic factors, and disrupted family/home environment that may affect development but do not indicate brain damage.

17. 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

18. 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

19. 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

20. FAS pFAS ARND Pre-and/or postnatal growth impairment Yes No No Facial anomalies All of the following: • Short palpebral fissures • Smooth/flattened philtrum • Thin upper lip 2 of the following: • Short palpebral fissures • Smooth/flattened philtrum • Thin upper lip No CNS Domains Impaired 3 3 3 Maternal alcohol exposure Confirmed or unconfirmed Confirmed Confirmed Diagnostic Criteria

21. 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 confirmedexposure) 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 Harmonization of the Institute of Medicine (IOM) Nomenclature and the 4-Digit Diagnostic Code Ranks for Growth, Face, Brain and Alcohol History

22. 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

23. 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?

24. 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 Acknowledgements