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: Fetal alcohol spectrum disorder: Canadian guidelines for Canadian guidelines for

diagnosisdiagnosis

Ted Rosales, MDTed Rosales, MD

66thth Face Research Roundtable Face Research RoundtableSeptember 9September 9thth 2005, Toronto, Ontario 2005, Toronto, Ontario

Fetal alcohol spectrum disorder: Fetal alcohol spectrum disorder: Canadian guidelines for Canadian guidelines for

diagnosis, CMAJ 2005; 172 diagnosis, CMAJ 2005; 172 (suppl):S1-S21(suppl):S1-S21

Identifying fetal alcohol spectrum Identifying fetal alcohol spectrum disorder in primary care, CMAJ, Mar. 1, disorder in primary care, CMAJ, Mar. 1,

2005; 172 (5), 628-6302005; 172 (5), 628-630

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

in photo: N. LeBlancin photo: N. LeBlanc

Fetal Alcohol spectrum disorder: Canadian guidelines for diagnosis, Fetal Alcohol spectrum disorder: Canadian guidelines for diagnosis, Albert E. Chudley, Julianne Conry, Jocelynn L. Cook, Christine Loock, Albert E. Chudley, Julianne Conry, Jocelynn L. Cook, Christine Loock,

Ted Rosales, Nicole LeBlanc, CMAJ, 2005; 172 (5 suppl) S1-S21Ted Rosales, Nicole LeBlanc, CMAJ, 2005; 172 (5 suppl) S1-S21

Canadian FASD GuidelinesCanadian FASD Guidelines

ObjectivesObjectives 1.) Present an overview of the recently 1.) Present an overview of the recently

published: Fetal alcohol spectrum disorder: published: Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis.Canadian guidelines for diagnosis.

2.) Present an overview of a recently 2.) Present an overview of a recently initiated FASD project in Labrador using the initiated FASD project in Labrador using the guidelines as the template.guidelines as the template.


Topics OutlineTopics Outline

IntroductionIntroduction EpidemiologyEpidemiology Risks factorsRisks factors Importance of early diagnosisImportance of early diagnosis Process of guideline developmentProcess of guideline development Background and terminology for the diagnosis of FASBackground and terminology for the diagnosis of FAS The diagnostic process:The diagnostic process: Screening and referralScreening and referral The physical examination and differential diagnosisThe physical examination and differential diagnosis Treatment and follow-upTreatment and follow-up Maternal alcohol history in pregnancyMaternal alcohol history in pregnancy Diagnostic criteria for FAS, partial FAS and ARNDDiagnostic criteria for FAS, partial FAS and ARND Harmonization of the Institute of Medicine (IOM) and 4-Digit Diagnostic Code approachesHarmonization of the Institute of Medicine (IOM) and 4-Digit Diagnostic Code approaches Future research related to diagnostic guidelinesFuture research related to diagnostic guidelines Emerging issuesEmerging issues BiomarkersBiomarkers Remote and rural areasRemote and rural areas Adult diagnosisAdult diagnosis ConclusionConclusion


Maternal Alcohol History in PregnancyMaternal Alcohol History in Pregnancy Prenatal alcohol exposure requires confirmation of alcohol Prenatal alcohol exposure requires confirmation of alcohol

consumption by the mother during the index pregnancy based on consumption by the mother during the index pregnancy based on reliable clinical observation, self-report, reports by reliable source or reliable clinical observation, self-report, reports by reliable source or medical records documenting positive blood alcohol, alcohol treatment medical records documenting positive blood alcohol, alcohol treatment or other social, legal or medical problems related to drinking during the or other social, legal or medical problems related to drinking during the pregnancy.pregnancy.

The number and type(s) of alcoholic beverages consumed (dose), The number and type(s) of alcoholic beverages consumed (dose), the pattern of drinking and the frequency of drinking should all be the pattern of drinking and the frequency of drinking should all be documented if available.documented if available.

Hearsay, lifestyle, other drug use or history of alcohol exposure in Hearsay, lifestyle, other drug use or history of alcohol exposure in previous pregnancies cannot be , in isolation, be informative of drinking previous pregnancies cannot be , in isolation, be informative of drinking patterns in the index pregnancy.patterns in the index pregnancy.


Early Diagnosis is paramountEarly Diagnosis is paramount


Risk FactorsRisk Factors

Higher maternal age and lower educational levelHigher maternal age and lower educational level Prenatal exposure to cocaine and smokingPrenatal exposure to cocaine and smoking Custody changesCustody changes Lower socioeconomic status and paternal drinking and drug use at the Lower socioeconomic status and paternal drinking and drug use at the

time of pregnancytime of pregnancy Reduced access to prenatal and postnatal care and servicesReduced access to prenatal and postnatal care and services Inadequate nutrition and a poor developmental environment (e.g., Inadequate nutrition and a poor developmental environment (e.g.,

stress, abuse , neglect)stress, abuse , neglect) MOST IMPORTANT RISK FACTOR IS RELATED TO HIGH BLOOD-MOST IMPORTANT RISK FACTOR IS RELATED TO HIGH BLOOD-

ALCOHOL CONCENTRATION: TIMING OF EXPOSURE DURING ALCOHOL CONCENTRATION: TIMING OF EXPOSURE DURING FETAL DEVELOPMENT, THE PATTERN OF CONSUMPTION, I.E., FETAL DEVELOPMENT, THE PATTERN OF CONSUMPTION, I.E., BINGE DRINKING (4 OR MORE DRINKS PER OCCASION) AND THE BINGE DRINKING (4 OR MORE DRINKS PER OCCASION) AND THE FREQUENCY OF USE.FREQUENCY OF USE.

Canadian FASD GuidelinesCanadian FASD GuidelinesKey domains assessed for CNS deficitKey domains assessed for CNS deficit

Hard and soft neurological signsHard and soft neurological signs Brain structure (including microcephaly)Brain structure (including microcephaly) CognitionCognition CommunicationCommunication Academic achievementAcademic achievement MemoryMemory Executive functioning and abstract reasoningExecutive functioning and abstract reasoning Adaptive behaviour, social skills, social communicationAdaptive behaviour, social skills, social communication Attention span, activity level, distractibilityAttention span, activity level, distractibility

A deficit is defined as abnormality of 2 standard deviation below the mean. All domains are generally 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 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 except neurological signs, which are assessed by specialists physicians or by the specialists already listedlisted


Differential DiagnosisDifferential Diagnosis

Aarskog syndromeAarskog syndrome Brachman-delange or Cornelia deLange syndromeBrachman-delange or Cornelia deLange syndrome Dubowitz syndromeDubowitz syndrome Fetal anticonvulsant syndromeFetal anticonvulsant syndrome Maternal phenylketonuria (PKU) fetal effectsMaternal phenylketonuria (PKU) fetal effects Noonan syndromeNoonan syndrome Toluene embryopathyToluene embryopathy Williams syndromeWilliams syndrome Other chromosome deletion and duplication syndromesOther chromosome deletion and duplication syndromes

Canadian FASD GuidelinesCanadian FASD GuidelinesFASD Diagnostic CriteriaFASD Diagnostic Criteria

CriterionCriterion FASFAS P-FASP-FAS ARNDARND

Growth Growth impairmentimpairment

YesYes NoNo NoNo

Facial anomalies: Facial anomalies:

(1) Short palpebral (1) Short palpebral fissures; (2) Smooth fissures; (2) Smooth or flattened philtrum; or flattened philtrum; (3) Thin upper lip(3) Thin upper lip

All 3 are presentAll 3 are present 2 of the 3 are 2 of the 3 are presentpresent

None are None are presentpresent

Brain injuryBrain injury Minimum of 3 CNS Minimum of 3 CNS domains impaireddomains impaired

Minimum of 3 CNS Minimum of 3 CNS domains impaireddomains impaired

Minimum of 3 CNS Minimum of 3 CNS domains impaireddomains impaired

Prenatal alcohol Prenatal alcohol exposureexposure

Confirmed or Confirmed or unconfirmedunconfirmed

ConfirmedConfirmed ConfirmedConfirmed

Canadian FASD GuidelinesCanadian FASD GuidelinesHarmonization of Institute of Medicine (IOM) nomenclature and 4-digit Harmonization of Institute of Medicine (IOM) nomenclature and 4-digit

diagnostic code ranks for growth, face, brain and alcohol historydiagnostic code ranks for growth, face, brain and alcohol history

4-digit4-digit diagnosticdiagnostic code rankscode ranks

IOM IOM NomenclatureNomenclature

Growth Growth deficiencydeficiency

FAS facial FAS facial phenotypephenotype

CNS damage or CNS damage or dysfunctiondysfunction

Geastational Geastational exposure to exposure to alcoholalcohol

FAS (with FAS (with confirmed confirmed exposure)exposure)

2, 3 or 42, 3 or 4 3 or 43 or 4 3 or 43 or 4 3 or 43 or 4

FAS (without FAS (without confirmed confirmed exposure)exposure)

2, 3 or 42, 3 or 4 3 or 43 or 4 3 or 43 or 4 22

Partial FAS (with Partial FAS (with confirmed confirmed exposure)exposure)

1,2, 3 or 41,2, 3 or 4 2, 3 or 42, 3 or 4 3 or 43 or 4 3 or 43 or 4

ARND (with ARND (with confirmed confirmed exposure)exposure)

1, 2, 3 or 41, 2, 3 or 4 1 or 21 or 2 3 or 43 or 4(2 for<6 years)(2 for<6 years)

3 or 43 or 4


Multidisciplinary TeamMultidisciplinary Team

Team can be geographic, regional or virtual; it can also accept Team can be geographic, regional or virtual; it can also accept referrals from distant communities and carry out evaluation using referrals from distant communities and carry out evaluation using telemedicine. The core team may vary according to the specific telemedicine. The core team may vary according to the specific context, but ideally should consists of the following:context, but ideally should consists of the following:

CoordinatorCoordinator Physician specifically trained in FASD diagnosisPhysician specifically trained in FASD diagnosis PsychologistPsychologist Occupational therapistOccupational therapist Speech-language pathologistSpeech-language pathologist Additional members may include addiction counsellors, childcare workers, parents or Additional members may include addiction counsellors, childcare workers, parents or

caregivers, probation officers, psychiatrists, teachers, vocational counselors, nurses, caregivers, probation officers, psychiatrists, teachers, vocational counselors, nurses, geneticists or dysmorphologists, neuropsychologists, family therapistsgeneticists or dysmorphologists, neuropsychologists, family therapists


Treatment and Follow-upTreatment and Follow-up

Education of the patient and family Education of the patient and family members on features of FASD is crucial.members on features of FASD is crucial.

A member of the diagnostic team should A member of the diagnostic team should follow-up outcomes.follow-up outcomes.

Diagnosed individuals and their families Diagnosed individuals and their families should be linked to resources and services should be linked to resources and services that will improve outcome.that will improve outcome.

Labrador Alcohol Research Group Labrador Alcohol Research Group Enterprise (LARGE) ProjectEnterprise (LARGE) Project

A Primary Health Care Approach in A Primary Health Care Approach in Labrador to deal with FASD, submitted to Labrador to deal with FASD, submitted to the Office of Primary Health Care , August the Office of Primary Health Care , August 4/04 by Andrea White, Michelle Kinney, and 4/04 by Andrea White, Michelle Kinney, and Michael JongMichael Jong

LARGE ProjectLARGE Project

Principal Basic Documents for the ProjectPrincipal Basic Documents for the Project

LARGE ProjectLARGE ProjectAction PlanAction Plan

1)1) DiagnosisDiagnosis

2)2) Diagnostic TrainingDiagnostic Training

3)3) Training for other professionalsTraining for other professionals

4)4) Training for frontline workersTraining for frontline workers

5)5) Establish a multidisciplinary FASD Diagnostic TeamEstablish a multidisciplinary FASD Diagnostic Team

6)6) Development of a Data Collection SystemDevelopment of a Data Collection System

7)7) Development of FASD Framework (Labrador)Development of FASD Framework (Labrador)

LARGE ProjectLARGE ProjectLabrador FASD Resource Center FormsLabrador FASD Resource Center Forms

1. Main Referral Information1. Main Referral Information A) Family/household situation---10 itemsA) Family/household situation---10 items B) Parents/background---26 items with sub-itemsB) Parents/background---26 items with sub-items C) Foster home---6 itemsC) Foster home---6 items D) Child activities and behavior (for parents and foster parents and other guardians D) Child activities and behavior (for parents and foster parents and other guardians as applicable)---9 items and the majority with sub-itemsas applicable)---9 items and the majority with sub-items 2. School Report (Daycare as applicable)---11 items with most with sub-items2. School Report (Daycare as applicable)---11 items with most with sub-items 3. Public Health Report---15 items with sub-items3. Public Health Report---15 items with sub-items 4. MD forms4. MD forms A) Summary report---11 items with some sub-itemsA) Summary report---11 items with some sub-items B. Body outline (toddler/child), back can be use for notesB. Body outline (toddler/child), back can be use for notes C. Written report/letter to parents/other responsible individuals/agencies as per valid C. Written report/letter to parents/other responsible individuals/agencies as per valid consent.consent. 5. Consent to release information5. Consent to release information

LARGE ProjectLARGE Project125 Individuals seen between April-June/05125 Individuals seen between April-June/05

Ages-YrAges-Yr FASDFASD L-FASD *L-FASD * S-IUAE #S-IUAE # OthersOthers

0-50-5 1515 1313 1111 1-3 mos. Flat head 1-3 mos. Flat head pilonidal sinuspilonidal sinus

6-106-10 2222 66 6 (one severe 6 (one severe school phobia)school phobia)

1-phenotype like M 1-phenotype like M

1-PHPPT1-PHPPT

11-1511-15 2222 33 1010 1-SN-deafness1-SN-deafness

1-Soto syndrome1-Soto syndrome

16-2016-20 5 ^5 ^ 2 (one 2 (one expectant father)expectant father)

21 plus21 plus 5 @5 @

TotalTotal 6969 2222 2929 55^ 1-16 yr old MOM^ 1-16 yr old MOM

@ 3-elderly MOMs@ 3-elderly MOMs

Likely FASD but Likely FASD but need CNS eval.need CNS eval.

# Significant intrauterine # Significant intrauterine alcohol exposurealcohol exposure

LARGE ProjectLARGE ProjectVision for the FutureVision for the Future

1) Preventing FASD1) Preventing FASD 2) Building a system of supports and 2) Building a system of supports and

resourcesresources 3) Meeting the needs of individuals with 3) Meeting the needs of individuals with

FASD, their families and communitiesFASD, their families and communities

Canadian FASD Guidelines and LARGE ProjectCanadian FASD Guidelines and LARGE Project

Last WordsLast WordsThe Canadian FASD Guidelines is the suggested “Gold Standard” The Canadian FASD Guidelines is the suggested “Gold Standard”

but/nevertheless each community/province/territory should use it as a “Guide” but/nevertheless each community/province/territory should use it as a “Guide” as intended depending on the available local resources.as intended depending on the available local resources.

The LARGE Project in Labrador is using it as the template/guide by drawing on the 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 available local resources with cooperation and recognition of common goals for those affected and their families.those affected and their families.