Guidelines and strategies for screening fetal alcohol spectrum disorder in
Canada
Jeremy N. Matlow, BMSc1,2
1Division
of Clinical Pharmacology and Toxicology, Hospital for Sick Children, 555
University Ave, Toronto, Ontario, M5G 1X8, Canada
2Department of Pharmacology, University of Toronto, 1 King’s College Circle, Toronto,
Ontario, M5S 1A8, Canada
Correspondence:
Jeremy N. Matlow
Division of Clinical Pharmacology/Toxicology, Room 8235
Hospital for Sick Children
555 University Avenue
Toronto, ON
M5G 1X8
Tel: (416) 813-7283
e-mail: jeremy.matow@utoronto.ca
1
Abstract
Fetal alcohol spectrum disorder (FASD) is a multi-factorial complication that
encompasses malformations, intellectual disability, and neurobehavioural anomalies.
Early diagnosis and treatment of FASD is necessary for prevention of secondary
characteristics later in life, such as mental health problems, inappropriate sexual
behaviour, and trouble with the law. Since a FASD diagnosis involves a collaborative
effort of several professionals, which can be time-intensive and costly, early screening
of high risk women and of potentially affected children can lead to more efficient
utilization of diagnostic clinics. Many healthcare professionals are aware that FASD is a
severe condition and, therefore, ask their female patients about alcohol consumption,
however there is still a general lack of knowledge on how to gauge alcohol dependence
in women of childbearing age and how to screen children born to these women. The
purpose of this review is to summarize guidelines and strategies available to Canadian
healthcare professionals on screening for potential FASD throughout: (1) pregnancy;
(2)infancy; and (3) childhood. Proper questioning during a consultation or administering
an alcohol questionnaire can help screen for problematic alcohol patterns in women of
childbearing age. Additionally, in utero alcohol exposure can be assessed via screening
for physiological malformations at birth, quantifying alcohol metabolites in meconium
and administering behavioural tests to young children. By understanding the resources
available to Canadian healthcare professionals, prevention or screening of FASD can
lead to proper referrals, early diagnosis, and reduced socioeconomic burden.
KEYWORDS: Fetal alcohol spectrum disorder; Screening; Guidelines; Strategies
2
Introduction
Fetal alcohol spectrum disorder (FASD) is the leading preventable cause of
malformations, mental retardation and neurobehavioural anomalies in the western
world.1 This diagnostic umbrella term has been subcategorized by the Institute of
Medicine to encompass fetal alcohol syndrome (FAS), partial FAS, alcohol-related birth
defects (ARBD), and alcohol-related neurodevelopmental disorders (ARND).2 If left
untreated, FASD can lead to secondary characteristics later in life that pose a huge
socioeconomic burden to the Canadian healthcare system.3 These characteristics
include school problems, mental health issues, addictions, inappropriate sexual
behaviour, and trouble with the law.4
Initial screening of women at risk of alcohol abuse or of potentially affected
children can lead to appropriate referral to a diagnostic clinic and potentially reduced
occurrence of secondary characteristics.5 Despite this, a survey in the Toronto region
reported that over 50% of physicians lacked confidence in screening for alcohol
dependence.6 To this end, the current review aims to summarize some of the tools and
guidelines currently available to Canadian healthcare practitioners for use in screening
alcohol consumption in pregnant women and potential FASD in children.
In Canada, the current diagnostic guidelines for FASD are outlined in a report by
the Public Health Agency of Canada’s National Advisory Committee on Fetal Alcohol
Spectrum Disorder.7 The report integrates current diagnostic strategies into a
comprehensive tool kit and makes recommendations for further improving efforts in
Canada. While proper diagnosis requires a team of experts that generally include a
3
pediatrician,
neurologist,
psychologist,
psychometrist,
and
speech-language
pathologist,8 there are still important roles a general healthcare provider can play that
include screening for high risk or probable cases and making appropriate referrals to
diagnostic clinics when necessary.
This review classifies screening practices and
resources that are currently used in Canada into 3 distinct categories: (1) screening in
women of childbearing age; (2) screening newborns, and screening children.
Screening women of childbearing age
Although many Canadian physicians agree that discussing alcohol with female
patients of childbearing age would not lead to anger or fear, a 2005 survey showed that
few physicians feel comfortable actually discussing alcohol abuse with these patients.4
The following suggestions summarize many guidelines, strategies and resources in the
literature that have been shown to assist in effectively talking with and reporting alcohol
exposure in women of childbearing age:

Gain background information on the etiology, prevalence, diagnosis and
treatment of FASD. Several broad reviews,2,9,10 electronic resources,11,12,13 as
well as Motherisk’s Alcohol and Substance Use Helpline at the Hospital For Sick
Children (1-877-327-4636) can assist in filling in gaps in knowledge and can also
be used as professional second opinions for patients.

Ask for detailed information when documenting alcohol use in pregnant patients.
Often, physicians will ask female patients about alcohol use but will not follow up
throughout pregnancy or ask about their specific consumption patterns.14 Details
4
that can help evaluate risk include number of drinks per occasion, number of
occasions per week, typical pattern of drinking before pregnancy, and drinking
patterns during specific stages of pregnancy.15 Patients should be aware and
reassured that the fetal brain is the most susceptible organ for alcohol-related
effects and, since it develops throughout pregnancy,16 discontinuation of alcohol
consumption in early pregnancy can reduce risk.

Document additional information that can be associated with high-risk patients.
Several factors that can lead to adverse pregnancy outcomes which may
potentially confound the effects of alcohol use are outlined by Kim et al: maternal
age, number of pregnancies, time of pregnancy recognition, use of prenatal
vitamins, previous emotional or drug counseling, medical conditions (particularly
psychological), and demographics.15 Additionally, women who have a family
history of mental health problems or past experiences with drugs, alcohol, sexual
abuse, or violence are at an increased risk of problem drinking during
pregnancy.17

Use motivational and supportive dialogue when discussing alcohol use during
pregnancy and the effects of alcohol on the developing fetus. Women are more
likely to accurately report alcohol use when discussions are goal-oriented and
non-confrontational.18 Sarkar et al. provides strategies on how to phrase
questions during consultations in a sensitive manner.18 For example, effective
practice may include using open-ended questions to gauge alcohol patterns,
assuring the patient that these questions are posed to all patients, and focusing
on future steps to avoid statements that accuse past actions.
5
Standardized questionnaires are additional resources that have proven to be
effective in delineating problem drinking.19 The Centre for Addiction and Mental Health
has suggested that physicians use questionnaires when documenting alcohol use.
However, a study of 103 physicians in Toronto and surrounding regions revealed that
these resources are rarely utilized.6 While there are a variety of questionnaires that
address alcohol use,19 the TWEAK (Table 1) has been validated for use in screening
pregnant women for alcohol abuse20 and has a higher specificity than the T-ACE.19 By
providing an environment that is less direct and confrontational, questionnaires may
help in generalizing the alcohol consultation for women that may feel they are being
singled out for their past use.
Table 1. TWEAK questionnaire. Adapted from Russell et al., 1996.23
TWEAK
QUESTIONS
POINTS
Tolerance How many drinks does it take to feel the first effects of
alcohol? ______________
(3 or more = 2 points)
Worry
Have close friends worried or complained about your
drinking the past year?
(Yes = 2 points)
EyeDo you sometimes take a drink in the morning when you
opener
first get up?
(Yes = 1 point)
Amnesia Has a friend or family member ever told you about
things you said or did while you were drinking that you
could not remember?
(Yes = 1 point)
Cut down Do you sometimes feel the need to cut down on your
drinking?
(Yes = 1 point)
A score of 2 or more points indicates a risk of a drinking Total Score =
problem
6
Screening newborns
At birth, children with FAS present with physiological impairments that are
outlined in detail by the United States Institute of Medicine.2 Briefly, growth retardation
can be measured in the form of low birth weight, low weight-to-height ratio, decreased
cranial size and microcephaly.
Additionally, children with FAS must have 3
characteristic facial features: short palpebral fissures (horizontal eye length), flattened
philtrum, and thin vermillion of the upper lip. Astley and Clarren later created a 4-Digit
Diagnostic Code that ranks the severity of growth deficiency, facial features, CNS
damage, and gestational exposure to alcohol on a scale from 1-4.21 Both of these
comprehensive documents are frequently used by specialists during the diagnostic
process, however, the guidelines may also be useful during the initial screening
process.
In the Guidelines for diagnosis in Canada, Chudley et al. suggest a
harmonization of the Institute of Medicine nomenclature and the 4-Digit Diagnostic Code
to allow for clear and consistent use of vocabulary and severity of features across
diagnostic disciplines (Table 2).7 This new tool can serve as a comprehensive initial
guide for physicians who are screening newborns of potentially high-risk women.
7
Table 2. Harmonization of Institute of Medicine nomenclature and 4-Digit Diagnostic
code ranks to screen for FASD in newborns. Adapted from Chudley et al., 2005.7
4-digit diagnostic code ranks
FAS facial
CNS
Gestational
phenotype damage or
exposure
dysfunction to alcohol
FAS (with confirmed exposure)
2, 3, or 4
3 or 4
3 or 4
3 or 4
FAS (without confirmed exposure)
2, 3, or 4
3 or 4
3 or 4
2
Partial FAS (with confirmed
1, 2, 3, or
2, 3, or 4
3 or 4
3 or 4
exposure)
4
Alcohol-related
1, 2, 3, or
1 or 2
3 or 4
3 or 4
neurodevelopmental disorder (with
4
(2 for < 6
confirmed exposure)
years)
FAS = fetal alcohol syndrome; CNS = central nervous system
IOM nomenclature
Growth
deficiency
Scoring:
1 = No symptoms/no risk of exposure to alcohol during pregnancy
2 = Mild symptoms/unknown risk of exposure to alcohol during pregnancy
3 = Moderate symptoms/some risk of exposure to alcohol during pregnancy
4 = Severe symptoms/high risk of exposure to alcohol during pregnancy
Confirmed alcohol exposure must be demonstrated before a referral to a FASD
diagnosis clinic can be made.22 However, in many cases, women will under-report their
alcohol consumption during pregnancy due to fear of stigmatization and blame,23 or
there will be discordance between information acquired from discussions with patients
compared to a questionnaire.18 When these complications arise, it is often beneficial to
use an objective marker of fetal alcohol exposure during the neonatal screening
process. Fatty acid ethyl esters (FAEEs) are non-oxidative metabolites of ethanol that
can assist in quantitatively measuring exposure to alcohol. FAEEs incorporate into
meconium, the infant’s first stool, which begins to form at approximately 12 weeks
gestation, and, therefore, quantification of FAEEs in meconium is an effective measure
8
of exposure during the later stages of pregnancy.24,25 Chan et al. found a positive cut-off
of 2 nmol FAEE/g meconium to distinguish excessive alcohol consumption in utero.25
Since high FAEE meconium levels are more prevalent in children born to high risk
mothers compared to the general population,26 meconium analysis may also give insight
into the potential environmental risk factors that increase the likelihood of secondary
characteristics.
Screening children
While detection of fetal alcohol effects at birth is beneficial since it can lead to
early diagnosis and intervention, the majority of children born with FASD show few, if
any, physiological signs of in utero alcohol exposure at birth.27,28 This may suggest that
these children have a less severe case of FASD, although children born with effects that
are undetectable at birth have been found to bemore likely to develop secondary
characteristics later on in life due to late diagnosis.5 In fact, the three major risk factors
identified that pre-disposed children for higher rates of secondary disabilities are: (1)
being diagnosed with pFAS or ARND instead of FAS; (2)not scoring low on an IQ test;
(3)no diagnosis prior to the age of 6. These undetectable insults to the brain may be
exacerbated by the high-risk living environment common in the households of many
alcoholic parents.27 Therefore, an understanding of which neurodevelopmental
anomalies are typical in children with FASD, as well as constant follow up in children
with confirmed in utero alcohol exposure, is essential for early detection in children
without physiological symptoms.
9
While the spectrum of FASD-related neurobehavioural deficits is vast, there are
certain domains that are more commonly observed across cases. Typical behavioural
problems include antisocial behaviour and delinquency,29 mental health disorders such
as Attention deficit-hyperactivity disorder , depression, and panic disorders,30 impaired
adaptive functioning (i.e. skills necessary for independent living),31 and impaired
executive functioning (i.e. complex cognitive skills involved in planning and goal
setting).32 Teachers or educational practitioners often detect these deficits first, since
symptoms begin to manifest themselves when children start attending school.8
Initial screening of FASD-related neurobehavioural deficits needs to be quick and
simple to allow for implementation in clinics across Canada.22 The Child Behavioural
Checklist (CBCL) is a comprehensive and well-established set of questions that
provides an overall behavioural profile and can be administered by a family physician or
a parent/caregiver.33 The CBCL can discriminate between similar behavioural disorders
and can be administered in sections to allow for more efficient screening of specific
deficits.34 Children with ARND are often improperly diagnosed with other disorders since
the behavioural profile overlaps predominantly with ADHD35,36 and oppositional
defiant/conduct disorder (ODD/CD).37 To this end, Nash et al. recently adapted the
CBCL to differentially screen for FASD by compiling sections where children with
previously diagnosed FASD scored statistically different from children diagnosed with
ADHD and ODD/CD (Figure 1a).38 Compared to ADHD, children with FASD score
positive more frequently in “acting too young for one’s age”, “cruelty”, “not showing guilt
after misbehaving”, and “stealing”.
The only criteria that appeared to distinguish
ODD/CD from FASD are increased “acting too young for one’s age” and decreased
10
“disobedience” in the FASD group (Figure 1b). While Nash’s screening tool is effective
in identifying children that may benefit from a referral to an FASD clinic, it is still
essential to recognize the importance of the household environment in the development
of ARND throughout life.
Along with early diagnosis, factors that decrease the
incidence of secondary characteristics include growing up in a stable home, not being a
victim to violence, and not being exposed to alcohol and drug abuse in the household.39
Therefore, physicians should be aware of community interventions available for women
with alcohol abuse problems13 and should continue to follow up high risk cases after
birth to prevent alcohol relapse or alcohol abuse in a subsequent pregnancy.
11
1) Has your child been or accused of or thought to act too
young for his or her age?
Place a checkmark in all columns if "YES" was endorsed
2) Has your child been seen or accused of or thought to be
disobedient at home?
Place a checkmark in columns A and C if "YES" was
endorsed
3) Has your child been seen or accused of or thought to lie or
cheat?
4) Has your child been seen or accused of or thought to lack
guilt after misbehaving?
Place a checkmark in column A and C for each "YES"
5) Has your child been seen or accused of or thought to have
difficulty concentrating and can't pay attention for long?
6) Has your child been seen or accused of or thought to act
impulsively without thinking?
7) Has your child been seen or accused of or thought to have
difficulty sitting still/is reckless or hyperactive?
Place a checkmark in column A for each "YES"
8) Has your child been seen or accused of or thought to
display acts of cruelty, bullying or meanness?
9) Has your child been seen or accused of or thought to steal
items from home?
10) Has your child been seenor accused of or thought to steal
items from outside of the home?
Place a checkmark in column B for each "YES"
A
B
C
YES
NO
YES
NO
YES
NO
YES
NO
YES
NO
YES
NO
YES
NO
YES
NO
YES
NO
YES
NO
D
Figure 1a. Questionnaire for differential diagnosis of FASD. Adapted from Nash et al.,
2011.38
12
Figure 1b. Scoring for differential diagnosis questionnaire. Adapted from Nash et al.,
2011.38
Positive screen (a): Separates FASD from typically developing children with a 14%
false positive rate and 18% false negative rate (sensitivity 86% & specificity 82%) and
from children with ADHD with a 19% false positive rate and 28% false negative rate
(sensitivity 81% & specificity 72%)
Positive screen (b):
Separates FASD, without ADHD symptoms, from typically
developing children with a 30% false positive rate and 20% false negative rate
(sensitivity 70% & specificity 80%)
Note: If box D is not checked this screener cannot separate FASD from ODD/CD
13
Conclusion
Since diagnosing FASD is such a complex and time-intensive process, proper
screening practices by healthcare professionals can promote appropriate referrals and
can maximize efficiency in diagnostic clinics.
Physicians should ensure they fill in
knowledge gaps where appropriate and seek out additional resources to most
effectively assist their patients in FASD prevention and screening.
Acknowledgements
I thank Michelle Todorow for her expertise on diagnostic procedures, and Drs.
Gideon Koren and Bhushan Kapur for their assistance in proofreading the manuscript.
Jeremy Matlow is supported by an Ontario Graduate Scholarship.
Conflicts of interest
There are no conflicts of interest to report.
14
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