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