Fetal Alcohol Spectrum Disorders:
Competency V –
Screening, Assessment, and
Diagnosis
The Arctic FASD Regional Training Center is a project of the
UAA Center for Behavioral Health Research & Services.
Funding for this project is provided by CDC Cooperative Agreement #U84DD000886-01.
Road map for presentation
• FASD and FAS
• Framework for FASD
diagnosis and services
• FAS diagnostic criteria
• Considerations for referral
• Evaluation of fetal alcohol
spectrum disorders in
Alaska
FASD AND FAS
What are fetal alcohol spectrum
disorders?
• Umbrella term
• Range of neurological
and other effects that
can occur in an
individual whose
mother drank alcohol
during pregnancy
Adapted from State of Alaska Division of Health and
Social Services and the University of Alaska
Anchorage Department of Social Work (2010).
FASD201: Developing Successful Interventions and
Supports.
What are fetal alcohol spectrum
disorders?
• Effects can include
physical, mental,
behavioral, and/or
learning disabilities
• Life-long implications
• Not intended for use as
a clinical diagnosis
Adapted from State of Alaska Division of Health and
Social Services and the University of Alaska
Anchorage Department of Social Work (2010).
FASD201: Developing Successful Interventions and
Supports.
5
FASDs and FAS
• Fetal Alcohol Syndrome (FAS)
• A disorder resulting from prenatal alcohol exposure
• Characterized by abnormalities in 3 domains
• FASDs encompasses FAS
• Covers all other diagnoses that refer to the neurological
damage that can occur as a result of prenatal alcohol
exposure.
Characteristics of FAS
• Facial dysmorphia
• Indistinct philtrum
• Small palpebral fissures
• Thin upper lip
• Growth restrictions
• Central nervous system
dysfunction
Reprinted from the 10th Special Report to
Congress on Alcohol and Health, NIAAA, 2000
FRAMEWORK FOR DIAGNOSIS AND
SERVICES
Framework for diagnosis
Initial identification
• Identification comes from many sources
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•
•
•
Parent
School
Social service system
Healthcare providers
• Well-child visits allow providers to screen for
FASD
• “Triggers” for further assessment include facial
abnormalities, growth delays, developmental problems,
or maternal alcohol use
Referral
• Initiated when provider suspects alcoholrelated disorder
• Key elements in referral process
• Initial evaluation gathering data related to four
FAS diagnostic criteria
• Determine whether child meets criteria
• Yes? Diagnose and refer for further assessment
• No? Monitor over time
Assessment and diagnosis
• Confirm diagnosis
• Dysmorphic and
anthropometic assessment
• Neurodevelopmental
evaluation data
• Develop an intervention
plan
• Multidisciplinary approach
DIAGNOSTIC CRITERIA
Diagnostic criteria
• Presence of facial dysmorphia
• Growth deficits
• Central nervous system (CNS) abnormalities
• Prenatal alcohol exposure
Presence of facial dysmorphia
• Effects of alcohol on
developing fetus depend on:
• Timing
• Amount
• Frequency
• Alcohol use early in
pregnancy may result in
facial anomalies
• Clinical features most often
associated with FAS are facial
anomalies
Presence of facial dysmorphia
• Smooth philtrum
• Thin vermillion
border
• Small palpebral
fissure
Reprinted from the 10th Special Report to
Congress on Alcohol and Health, NIAAA,
2000
• Distance from the
inner to outer corner
of the eye
Growth problems
• The FAS Guidelines Report (2004) proposes
growth criteria
• Confirmed deficient prenatal or postnatal
height/weight/both
• Adjust for age, sex, gestational age, and race or
ethnicity
• Ensure that growth deficit does not
correlate with a point in time when the
individual was nutritionally deprived.
Growth problems
• Factors to consider in growth assessments:
• Nutrition
• Environment
• Genetics
• Differential diagnoses should be considered
• Use CDC’s 2000 Growth Charts:
www.cdc.gov/growthcharts
Central nervous system
abnormalities
• Abnormalities can be
structural, neurological,
and/or functional
• Documentation of
problems in one or more
of these areas is
necessary for the FAS
diagnosis
Central nervous system
abnormalities
• Structural
• Head circumference
• Neurological
• Coordination problems
• Difficulty with motor control
• Nystagmus (uncontrolled movement of the
eye from side to side)
Central nervous system
abnormalities
• Functional deficits: areas of impairment or
disability that result from problems in the
functioning of the central nervous system.
• Two ways to determine presence of functional
deficits
• Performance substantially below that expected for a
person’s age, schooling, or circumstances
• Functional deficits below the 16th percentile in at least
three areas
Central nervous system
abnormalities
• Functional deficits 1 standard deviation below the
mean for standardized testing in at least three of
the following areas:
•
•
•
•
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•
Cognitive or developmental deficits
Executive functioning deficits
Motor functioning delays
Problems with attention or hyperactivity
Social skills problems
Other (such as sensory problems, pragmatic language
problems, memory deficits, etc.)
Central nervous system
abnormalities
• Importance of differential diagnosis of CNS
abnormalities
• Rule out other disorders
• Specify co-occurring disorders
• External factors may produce similar deficits that are
affected by FAS
• CNS deficits should be evaluated in conjunction
with other findings
Maternal alcohol exposure
• Documenting maternal
alcohol exposure is
important but often difficult
to obtain
• Birth mothers may be
hesitant to admit use during
pregnancy
• Many children are from
foster or adoptive home
• Obtaining this information is
important but not critical to
making a diagnosis
CONSIDERATIONS FOR REFERRAL
Considerations for a referral for
diagnostic evaluation
• Decision to refer for
diagnosis often falls to
front-line service providers
• Fear of social stigma often
an issue
• Evidence of maternal
alcohol use
• Decision to refer should be
made case-by-case
• The 2004 guidelines provide
assistance
Considerations for a referral for
diagnostic evaluation
Known alcohol exposure
• Refer for full evaluation when confirmed significant
maternal alcohol use during pregnancy:
• 7 or more drinks per week or,
• 3 or more drinks on multiple occasions or,
• both
• Primary healthcare provider should document
exposure and closely monitor the child’s ongoing
growth and development
Considerations for a referral for
diagnostic evaluation
Unknown prenatal alcohol exposure
• Refer for full evaluation when:
• There is any report of concern by a parent or caregiver
that child has or might possibly have an FASD
• All three facial features are present
• Any combination of facial features, CNS abnormalities,
height/weight deficiencies are present
EVALUATION OF FETAL ALCOHOL
SPECTRUM DISORDERS
Characteristics of fetal alcohol
spectrum disorders
• Individuals may have some,
but not all, characteristics
of FAS
• Not enough to meet
diagnostic criteria for FAS
• Often do not exhibit
characteristic facial features
• Facial features of FAS
thought to be secondary to
impact of alcohol on early
brain development
Characteristics of fetal alcohol
spectrum disorders
• Most damaging effects of prenatal alcohol
exposure may not be visible
• Prenatal alcohol exposure affects central nervous
system (CNS) functioning
• Consistent deficits among individuals with
prenatal alcohol exposure
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Verbal learning and memory
Attention
Abstract & practical reasoning
Executive functioning
Social skills
FASD EVALUATION IN ALASKA
Evaluating FASDs in Alaska
• Alaska follows a diagnostic model developed at
the University of Washington called “The
4-Digit Code”
• Accurate, reproducible, and unbiased
• Multidisciplinary teams assess the severity of
these four independent criteria.
• There are currently ten teams operating in Alaska.
Typical members of a diagnostic
team
• Team coordinator
• Physician/medical provider
• Parent navigator/family advocate
• Occupational and/or physical therapist
• Clinical and/or school psychologist
• Speech and language pathologist
Four-digit code
• Includes independently ranked characteristics:
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Growth deficiency
FAS facial features or “FAS phenotype”
Central nervous system damage/dysfunction
Maternal drinking during pregnancy
• 256 diagnostic codes, grouped into 22 diagnostic
categories
• Does not require confirmed prenatal alcohol exposure
Diagnostic code example
In closing….
• Framework for diagnosis
and services
• FAS diagnostic criteria
• Considerations for
referral
• Evaluation of FASDs
Arctic FASD Regional Training Center
www.uaa.alaska.edu/arcticfasdrtc
[email protected]
907.786.6381
The Arctic FASD Regional Training Center is a project of the UAA Center for
Behavioral Health Research & Services.
Funding for this project is provided by CDC Cooperative Agreement #U84DD000886-01.