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 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 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 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.

Canadian FASD Guidelines Early Diagnosis is paramount

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.

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

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

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

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)

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

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

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.