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Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis

Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis. Ted Rosales, MD 6 th Face Research Roundtable September 9 th 2005, Toronto, Ontario. Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis, CMAJ 2005; 172 (suppl):S1-S21.

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Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis

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  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), 628-630

  3. 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 GuidelinesObjectives • 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 GuidelinesTopics 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 GuidelinesMaternal 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 GuidelinesRisk 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 GuidelinesKey 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 GuidelinesDifferential 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 GuidelinesFASD Diagnostic Criteria

  13. Canadian FASD GuidelinesHarmonization of Institute of Medicine (IOM) nomenclature and 4-digit diagnostic code ranks for growth, face, brain and alcohol history

  14. Canadian FASD GuidelinesMultidisciplinary 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 GuidelinesTreatment 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 ProjectAction 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 ProjectLabrador 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 Project125 Individuals seen between April-June/05

  21. LARGE ProjectVision 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 ProjectLast 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.

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