FASD Diagnostic Guidelines
Dr. Ana Hanlon-Dearman Developmental Paediatrician
Section Head, Developmental Paediatrics Associate Professor Paediatrics and Child Health
University of Manitoba Canada
Various Diagnostic Guidelines
• Canadian: 2005, [2015]
• American: IOM 1996, CDC 2004, Hoyme, WashDPN, DSM-V
• British: 2007
• Australian: 2013
ND-PAE (DSM-V)
Neurocognitive Functioning (one or
more)
Global Intellectual Impairment
Executive Functioning Impairment
Learning Impairment
Memory Impairment
Visual-Spatial Reasoning
Impairment
Self-Regulation (one or more)
Mood or Behavioural Regulation Impairment
Attention Deficit
Impulse Control Impairment
Adaptive Functioning (two or more, communication
or social impairment required)
Communication Deficit
Social Communication and Interaction
Impairment
Daily Living Skills Impairment
Motor Skills Impairment
Dr. Jocelynn L. Cook
Scientific Director
Society of Obstetricians and Gynaecologists of Canada
Dr. Courtney R. Green
Manager, Research Development
CanFASD
Dr. Christine Lilley
Clinical Psychologist
Sunny Hill Health Centre
Fetal Alcohol Spectrum Disorder: Guidelines for diagnosis across the lifespan
Fetal Alcohol Spectrum Disorder: Guidelines for diagnosis across the lifespan
Dr. Jocelynn L. Cook
Scientific Director
Society of Obstetricians and Gynaecologists of Canada
Dr. Courtney R. Green
Manager, Research Development
CanFASD
Dr. Christine Lilley
Clinical Psychologist
Sunny Hill Health Centre
Considerations
• PAE guidelines
• [Growth]
• Brain
– Modify the domains (integration of mental health)
– Adopt (or not) DSM criteria (superdomains)
– Cut-offs for brain domains: 2 SD
• Nomenclature and Diagnostic Criteria
– Use of FASD as a diagnosis
• Infants and Young Children/Adults
Recommendation: Nomenclature and Diagnostic Criteria
• Recommending the use of FASD as a diagnostic term when prenatal alcohol exposure is considered to be a significant contributor to the observed deficits that cannot be explained by other etiologies
• New nomenclature:
– FASD with Sentinel Facial Features (dx)
– FASD without Sentinel Facial Features (dx)
– At Risk for Neurodevelopmental Disorder and FASD, Associated with PAE (designation not a dx)
Recommendation: Nomenclature Definitions
DIAGNOSIS “AT RISK” DESIGNATION
FASD with Sentinel Facial Findings
FASD without Sentinel Facial
Findings
At Risk*
PAE Not required Confirmed Confirmed
FACE 3 Facial Features None required None required
BRAIN 3 domains of impairment (or
microcephaly for infants)
3 domains of impairment
Clinical concern about development
*At Risk for Neurodevelopmental Disorder and FASD, Associated with PAE
Recommendations: Infants and Young Children/Adults
• Integrated approach
• Specific guidelines and recommendations that recognize the inherent limitations associated with dx • Infants: too young to undergo comprehensive CNS assessment
• Adults: difficult to obtain confirmed PAE history, obstacles to assessment – homelessness, addiction, mental health
• Recommended neuropsychological tests that appropriate across the lifespan
• Guidelines for re-assessment and monitoring
Recommendations: Infants and Young Children
• Infants and young children with microcephaly and all 3 sentinel facial features should receive the diagnosis FASD with Sentinel Facial Features
• Infants and young children who have confirmed PAE, may consider: At Risk for Neurodevelopmental Disorder (FASD), Associated with Prenatal Alcohol Exposure
Recommendation: PAE
• NO SAFE AMOUNT OF ALCOHOL EXPOSURE: women should be advised to abstain from alcohol while pregnant.
• A variety of maternal and fetal factors can mediate the impact of alcohol on brain development:
– maternal age and weight
– rate and pattern of alcohol consumption
– levels of drinking prior to pregnancy
– nutrition status
– Stress
• Importance of seeking information about PAE from more than one source.
– Sensitivity
Recommendation: PAE
• The threshold of alcohol exposure known to be associated with adverse neurobehavioural effects:
– 7 or more standard drinks per week, or any episode of drinking 4 or more drinks on the same occasion.
– Because the effect sizes seen with a single binge episode are relatively small, a threshold of 2 binge episodes is recommended as a minimum for diagnosis.
Recommendation: Growth
• Limited evidence to support the inclusion of growth restriction (pre- and post-natal) as a criterion for FASD diagnosis.
• Clinical experience and expertise support the removal of “growth” as a diagnostic criterion.
• CanFASD data* also confirm the relatively low percentage of cases that meet the current growth restriction criteria.
*Unpublished finding, Universal FASD Dataform Project
Recommendation: Brain Dysfunction Criteria
• Evidence of impairment (≤ 2 SD below the mean) in 3 or more of the following domains: – Motor Skills
– Neuroanatomy/neurophysiology
– Cognition
– Communication
– Academic achievement
– Memory
– Attention
– Executive Function
– Affect Regulation
– Adaptive behaviour, social skills, or social communication
Dataform Results: Brain Domain Impairment (from Clarren et al)
63
61
61
48
42
38
38
24
48
62
48
32
44
55
49
-100 -50 0 50 100
Attention deficit/hyperactivity
Adaptive behaviour
Executive function
Communication
Academic achievement
Memory
Cognition
Neurological
Brain structure
% with significant domain diagnosis
Adult patientsChild patients
Recommendations: Adults
• Addition of mental health domain
• Additional challenges and barriers need to be considered
– Homelessness
– Addiction
– Limited family support
– Poverty
– Mental Health
– Legal Problems
– Parenting Challenges
Recommendations: Adults
• Adaptive Behaviour can be challenges to assess when there is no suitable informant. Historical or current information derived from a file review may be used as a proxy in these situations:
– Documented inability to function in key aspects of independent living
– Documented difficulty in social competence
Follow-up improves outcomes
• FASD Education and support for the patient and those involved with their care using appropriate language and delivered by a trained service provider.
• A member of the diagnostic team should follow-up to ensure that the recommendations have been addressed.
• Diagnosed individuals and those that care for them should be linked to resources and services that can improve outcomes.
• A member of the diagnostic team should provide a customized list of feasible services.
So…..
• There is NO known safe level of alcohol consumption during pregnancy.
• Preventing alcohol-exposed pregnancies can result in significant cost savings through prevented cases of FASD and reduced use of the health and social services.
• Effectively taking a reliable and accurate maternal alcohol history is the best screening tool for FASD.
• Early diagnosis can improve outcomes.
Conclusion
• An accurate and timely diagnosis for any individual at risk of FASD remains a significant clinical challenge.
• Research continues to reveal novel discoveries that will improve the technologies available for screening, diagnosis and treatment. Large databases help!
• Recommendations are based on the best evidence that is available.
• Collaboration and partnerships will improve diagnostic capacity and process increasing the likelihood of positive outcomes.
Dr. Jocelynn L. Cook
Scientific Director
Society of Obstetricians and Gynaecologists of Canada
Dr. Courtney R. Green
Manager, Research Development
CanFASD
Dr. Christine Lilley
Clinical Psychologist
Sunny Hill Health Centre
Fetal Alcohol Spectrum Disorder: Guidelines for diagnosis across the lifespan
Steering Committee
Dr. Sally Anderson, USA
Ms. Mary Ellen Baldwin, AB
Dr. Albert Chudley, MB
Dr. Julie Conry, BC
Dr. Jocelynn Cook, ON
Dr. Courtney Green, ON
Dr. Nicole LeBlanc, NB
Dr. Christine Lilley, BC
Dr. Chris Loock, BC
Ms. Jan Lutke, BC
Ms. Bernie Mallon, AB
Ms. Audrey McFarlane, AB
Dr. Ted Rosale, NL
Dr. Valerie Temple, ON
FASD Diagnostic Guidelines Update and Revision Project
Two year project funded by PHAC
CanFASD tasked with leading the update and revision process
Goal: to improve diagnostic criteria and capacity for FASD based on emergent evidence and current practice.
The Evolution of FASD Diagnosis
Since the Canadian diagnostic guidelines were released in 2005, gaps and inconsistencies have emerged.
Further clarification on diagnostic processes and practices, particularly for infants and adults were needed
New guidelines needed to reflect sound, evidence-based recommendations.
New guidelines needed to simplify the terminology and better define brain domains
Screening and Referral
All pregnant and post-partum women should be screened for alcohol use with validated measurement tools by service providers who have received appropriate training in their use.
Women at risk for heavy alcohol use should receive early brief intervention.
Abstinence should be recommended to all women during pregnancy to ensure the safest outcome for the fetus.
Referral of individuals for a diagnosis should be made when there is evidence of or suspected prenatal alcohol exposure at levels associated with physical or developmental effects.
The Diagnostic Team
A multidisciplinary team is recommended for an accurate and comprehensive diagnosis and treatment recommendations.
– The multidisciplinary diagnostic team can be regional or virtual; satellite clinics and telemedicine have been created to meet the needs of referrals from distant communities.
The core team will vary according to the specific context and the age of the individual being diagnosed and should possess the necessary expertise to conduct all aspects of the functional assessment.
Specific team member composition recommendations have been made based on the client age group.
Recommendation: PAE
NO SAFE AMOUNT OF ALCOHOL EXPOSURE: women should be advised to abstain from alcohol while pregnant.
A variety of maternal and fetal factors can mediate the impact of alcohol on brain development:
– maternal age and weight
– rate and pattern of alcohol consumption
– levels of drinking prior to pregnancy
– nutrition status
– Stress
Importance of seeking information about PAE from more than one source.
– Sensitivity
Recommendation: PAE
Made a chart of all published data
The threshold of alcohol exposure known to be associated with adverse neurobehavioural effects:
– 7 or more standard drinks per week, or any episode of drinking 4 or more drinks on the same occasion.
– The DSM-5 recommends a similar threshold.
– Because the effect sizes seen with a single binge episode are relatively small, a threshold of 2 binge episodes is recommended as a minimum for diagnosis.
These recommendations are tentative, and may become outdated as more data becomes available.
Recommendation: Growth
Limited evidence to support the inclusion of growth restriction (pre- and post-natal) as a criterion for FASD diagnosis.
Clinical experience and expertise support the removal of “growth” as a diagnostic criterion.
CanFASD data* also confirm the relatively low percentage of cases that meet the current growth restriction criteria.
*Unpublished finding, Universal FASD Dataform Project
Recommendation: Brain Dysfunction Criteria Evidence of impairment (≤ 2 SD below the mean) in 3
or more of the following domains:
– Motor Skills
– Neuroanatomy/neurophysiology
– Cognition
– Communication
– Academic achievement
– Memory
– Attention
– Executive Function
– Affect Regulation
– Adaptive behaviour, social skills, or social communication
Recommendation: Addition of Mental Health brain domain
Evidence
Survey evidence showing high prevalence rates of anxiety and depression in the FASD population.
Animal research (Joanne Weinberg and colleagues) suggesting that the mechanism was direct, and not secondary
Recommendation: Definition for the Mental Health brain domain
Not test or score based
Meets DSM-5 criteria for a short list of disorders reflecting unipolar depression, anxiety, and dysregulation of mood
Expected that older patients may have these diagnoses in place prior to clinic, and other patients may undergo a brief semi-structured interview as needed
Recommendation: Clinical Cut-off (≤ 2SD below the mean)
For diagnosis, the more extreme clinical cut-off of 2 SD below the mean is recommended to be certain that the scores represent injury caused by alcohol.
The role of the multidisciplinary team is also critical in making a diagnosis as qualitative aspects of performance are also important.
The diagnostic profile is dynamic and may change over time necessitating several assessments over the lifespan.
Services should not be based on the dx itself, but on the profile of brain function-dysfunction.
Recommendation: Specific Updates to Brain Domains
“Hard and Soft Neurological Signs” renamed “Motor Skills”.
– redefined so evidence must come primarily from direct tests of motor skills, with additional supporting evidence from neurological examination.
– Sensory deficits were not included (main concern regarding overlap with executive function, not included in other diagnostic systems)
“Brain Structure” renamed “Neurophysiology/Neuroanatomy” and redefined to include seizure disorders.
“Communication” in place of “Language”.
Recommendation: Nomenclature and Diagnostic Criteria
Recommending the use of FASD as a diagnostic term when prenatal alcohol exposure is considered to be a significant contributor to the observed deficits that cannot be explained by other etiologies
New nomenclature:
– FASD with Sentinel Facial Features (dx)
– FASD without Sentinel Facial Features (dx)
– At Risk for Neurodevelopmental Disorder and FASD, Associated with PAE (designation not a dx)
Recommendation: Nomenclature Definitions
DIAGNOSIS DESIGNATION
FASD with Sentinel Facial
Findings
FASD without Sentinel Facial
Findings
At Risk*
PAE Not required Confirmed Confirmed
FACE 3 Facial Features None required None required
BRAIN 3 domains of impairment (or
microcephaly for infants)
3 domains of impairment
Clinical concern about development
*At Risk for Neurodevelopmental Disorder and FASD, Associated with PAE
We still need to measure…….
Important but not diagnostic…..
– Growth
– Minor congenital anomalies
– Co-morbidities
– Sensory
– Sleep
– Pre and postnatal factors
Recommendations: Infants and Young Children/Adults
• Integrated approach
• Specific guidelines and recommendations that recognize the inherent limitations associated with dx
• Infants: too young to undergo comprehensive CNS assessment
• Adults: difficult to obtain confirmed PAE history, obstacles to assessment – homelessness, addiction, mental health
• Recommended neuropsychological tests that appropriate across the lifespan
• Guidelines for re-assessment and monitoring
Recommendation: Infants and Young Children
Although measures vary in their depth, breadth, and reliability, there are psychometric measures available for infants and young children.
A few infants and young children will meet psychometric criteria, and should be diagnosed. More information will be provided about tests that are considered reliable for infants and young children.
Recommendations: Infants and Young Children
Infants and young children with microcephaly and all 3 sentinel facial features should receive the diagnosis FASD with Sentinel Facial Features.
Infants and young children who have confirmed PAE or all 3 sentinel facial features can be designated At Risk for Neurodevelopmental Disorder (FASD), Associated with Prenatal Alcohol Exposure
Recommendations: Adults
Additional challenges and barriers need to be considered
– Homelessness
– Addiction
– Limited family support
– Poverty
– Mental Health
– Legal Problems
– Parenting Challenges
Recommendations: Adults
Addition of mental health domain expected to increase sensitivity
Recommendations: Adults
Adaptive Behaviour can be challenges to assess when there is no suitable informant. Historical or current information derived from a file review may be used as a proxy in these situations:
– Documented inability to function in key aspects of independent living
– Documented difficulty in social competence
Follow-up improves outcomes
FASD Education and support for the patient and those involved with their care using appropriate language and delivered by a trained service provider.
A member of the diagnostic team should follow-up to ensure that the recommendations have been addressed.
Diagnosed individuals and those that care for them should be linked to resources and services that can improve outcomes.
A member of the diagnostic team should provide a customized list of feasible services.
So…..
There is NO known safe level of alcohol consumption during pregnancy.
Preventing alcohol-exposed pregnancies can result in significant cost savings through prevented cases of FASD and reduced use of the health and social services.
Effectively taking a reliable and accurate maternal alcohol history is the best screening tool for FASD.
Early diagnosis can improve outcomes.
Conclusion: These are Guidelines, Not Laws
An accurate and timely diagnosis for any individual at risk of FASD remains a significant clinical challenge.
Research continues to reveal novel discoveries that will improve the technologies available for screening, diagnosis and treatment. Large databases help!
Recommendations are based on the best evidence that is available.
Collaboration and partnerships will improve diagnostic capacity and process increasing the likelihood of positive outcomes.
Everyone has their own ideas
