Standardizing Diagnosis of FAS
Jocelynn L. Cook, Ph.D.
Background
FAS is underdiagnosed FAS and other alcohol-related disabilities
are difficult to diagnose Diagnosis is often necessary for patients
to receive access to intervention services
Early intervention has been shown to improve outcome
Background It is critical that physicians make the diagnosis of FASD Health professionals do not feel prepared to care for
affected individuals and their families Health professionals report that they require more
education and training : To feel more comfortable caring for affected individuals and
their families
To make accurate and reliable referrals and diagnoses
Standardized diagnostic guidelines would be helpful for increasing the knowledge and comfort levels of physicians around identification and diagnosis and for gathering information on FASD Nationwide
Standardizing Screening, Diagnosis, and Surveillance
Health Canada has established an expert committee to recommend National guidelines for identification and diagnosis of FAS and its related disabilities
Guidelines are meant to be a gold standard Discussion has centered around:
Definitions and terminology (FASD)Identification toolsDiagnostic procedures Incidence/prevalenceFeasibility of standardized National guidelinesResearch needsCapacity building
Accomplishments to Date
The committee has sought the advice of other experts and has made draft recommendations about:
Terminology and the use of FASD Diagnosis as it relates to facial abnormalities, growth,
and neurobehavioral characteristics The necessity of linking diagnosis to the provision of
services The need for validated identification tools to screen for
prenatal alcohol exposure Research needs and priorities as they relate to
diagnosis
Terminology:Fetal Alcohol Spectrum Disorder
Fetal Alcohol Spectrum Disorder (FASD) is an umbrella term that encompasses the 5 published diagnostic categories in the Institute of Medicine criteria for Fetal Alcohol Syndrome (Reference: Institute of Medicine, p.79).
FASD should not be used as a diagnostic term
FAS
(confir
med ex
posure
)
Alc
ohol
-Rel
ated
Birth
Def
ects
Partial F
AS
Alcohol-R
elated
Neuro
develo
pmental
Disord
er
FAS
(with
out confir
med ex
posure
)
Screening for Prenatal Alcohol Exposure
Based on available information, the committee
believes there is no reliable identification tool currently
in use with demonstrated validity (and specificity) to
predict prenatal alcohol exposure in children,
adolescents, and adults
Identification cannot be equated with diagnosis
Culturally sensitive and effective screening tools that
are adaptable to different age groups and to different
contexts must be developed
Diagnosis: The Team
A multidisciplinary team is essential for an
accurate and comprehensive diagnosis and
treatment recommendations. The multidisciplinary diagnostic team can be
geographical/regional, virtual, or can accept
referrals from distant communities and be
evaluated using telehealth
The core team for diagnosis of any individual
may vary according to the context, but
ideally should consist of:Co-ordinator (for case management) – this could be
a nurse, social workerSpecially trained physician(s)
(pediatrician/developmental pediatrician/clinical
geneticist)PsychologistOccupational therapistSpeech Language PathologistThe core team is complemented by a psychiatrist
Diagnosis: The Team
The community and the family must be prepared and ready to participate in, and be in agreement with, the diagnostic assessment.
The community and the family must understand the reasons, benefits and potential harms of an alcohol related diagnosis.
Following the diagnostic assessment, there must be support in the community for implementation of the recommendations.
The diagnostic team should have a means to follow-up outcomes of diagnosis assessments/treatments and determine if recommendations have been carried out.
Diagnosis of FAS
The recommended minimum procedure for the physical exam is:
Measure and plot growth parameters and head circumference
A general physical and neurological examination Search for and document any major anomalies (cleft
palate, heart murmurs, etc.) or minor anomalies (e.g., epicanthic folds, high arched palate, maligned or abnormal teeth, hypertelorism, micrognathia, abnormal hair patterning, abnormal palmar creases, skin lesions, etc.)
Measure and plot palpebral fissure lengths using a clear flexible plastic ruler
Assignment of an independent score for the lip and the philtrum using the lip-philtrum guide
The Physical Diagnosis
Growth
Based on Institute of Medicine criteria (height is less than or equal to the 10th percentile and/or a disproportionately low weight: height ratio: less than or equal to 10th percentile) using appropriate norms and taking into consideration other confounding variables including parental size/genetic potential and medical conditions (e.g., gestational diabetes)
Diagnosis of FAS: Growth
Face
(Adapted from Streissguth et al., 1994)
The following discriminating features that can be readily observed and and where standards can be established should be measured:
Short palpebral fissures ANDAbnormalities in the premaxillary zone
(smooth/flattened philtrum, smooth upper lip) Associated physical features (abnormalities
of the midface/maxillary area, mandible, ears, and nose) should be recorded but do not contribute to the diagnosis
Diagnosis of FAS: Face
The Neurobehavioral Assessment
Neuro-Psychological Performance Associated with Prenatal Alcohol Exposure
FSIQ Read Spell Arith PPVT BNT ATotal VMI PegsD CCT40
50
60
70
80
90
100
110
120
CON
PEA
FAS
Mattson and Riley, 1998
Hard and Soft Neurological Findings (including sensory-motor)
Small Head Circumference and other Structural Brain Abnormalities
Cognition: Full Scale IQ below 70 Communication: delayed or disordered receptive and
expressive language Academic Achievement: inconsistent with IQ level or
discrepancies across areas (e.g., Reading vs. Arithmetic) Memory: Auditory and Visual Executive Functioning and Abstract Reasoning Attention/hyperactivity Adaptive Behavior/Social Skills/Social
Communication
The Neurobehavioral Assessment: Suggested Domains for Measurement
Guidelines establish a threshold for diagnosis Assessment should include both basic and complex
tasks in each domain, as appropriate Where standardized tests are used, scores 2 SD
below the mean in 3 domains suggests organic impairment
Domains are assessed as independent entities. Where there is overlap, abilities should not be double counted and experienced clinical judgment is required
A discrepancy of at least 1 SD between subdomains may be indicative of brain dysfunction
Evidence of impairment in 3 domains is necessary for diagnosis, but a comprehensive assessment requires that each domain be assessed
The Neurobehavioral Assessment
Maternal Alcohol History Hearsay or evidence about previous pregnancies should
not be relied upon as data for maternal alcohol history Specific criteria around amounts of alcohol that will likely
cause the disabilities of FASD are being developed The number and type(s) of alcoholic beverages
consumed (dose), the pattern of drinking, and the frequency of drinking should all be documented.
Sources for information include: Birth mother/Birth mother’s partner Family member Foster family Health care professionals Records Documentation of maternal alcohol use should be correlated
with timing of maternal recognition of pregnancy
Next Steps (in conjunction with experts in the field)
Finalization of guidelines after review by experts, stakeholders, and NAC
Publication of guidelines in peer-reviewed journal by NAC sub-committee
Development of an identification tool that can be validated for use in different populations
Discussion of how to measure incidence/prevalence
Environment scan of training and education programs for health professionals and development of a gold standard program
Attend to research priorities and capacity building
Acknowledgements
Dr. Fred Boland Dr. Ab Chudley (co-chair) Dr. Julie Conry Dr. Nicole LeBlanc Dr. Christine Loock PPHB & FNIHB’s FASD Teams