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When a doctor assesses an individual
for FAS/E, all the results of tests carried out on that person
are collected and analyzed in order to make an accurate diagnosis.
For the purposes of this article, let us assume that the individual
is a child. If that child has been diagnosed as having FAS/E,
it is ideal that the diagnosis be accompanied by a listing of
the following:
* The child’s specific deficits
* The child’s learning and/or behavior concerns
* Appropriate recommendations to help the child with his or her
special needs
Benefits of
obtaining an accurate diagnosis:
Fetal Alcohol Syndrome is a medical diagnosis usually made by
a physician specifically trained in the assessment of birth defects.1
The benefits of obtaining an accurate diagnosis by a qualified
physician and/or team of professionals have been identified by
the State of Alaska Department of Health and Social Services
as follows:
 It
can improve the child’s opportunity to receive appropriate
interventions
It can facilitate communication
among clinicians, caregivers, and educators
It provides better self-awareness
and understanding by family members
Therefore, it must be stressed
that an accurate diagnosis is an important part of the management
of FAS/E. Once a child is diagnosed, specific deficits can be
identified and interventions planned.2 Diagnosis of FAS/E involves examinations
and evaluations by doctors and other professionals who specialize
in this area. When asked the question “How is FAS/FAE diagnosed?”,
the Minnesota Organization for Fetal Alcohol Syndrome (MOFAS)
offered the following guidelines for diagnosis:
“FAS/FAE is diagnosed
after completion of a medical examination and psychological,
occupational therapy and speech/language evaluations.”3
Roles of the
various professionals:
MOFAS goes on to explain the
role of the various examinations that are conducted:
The Medical examination includes:
Evaluation of the prenatal and
birth history and previous medical history
General physical examination
Evaluation of early and current
growth patterns
Measurement of facial features
The Psychological evaluation
includes:
Developmental tests to determine
abilities and deficits
The Occupational Therapy evaluation
determines:
Motor functions and adaptive
abilities
The Speech and Language evaluation
determines:
Abilities to understand and communicate
Preparing for a diagnosis:
To better assist health providers
or professionals in obtaining a diagnosis, MOFAS advises parents
to do the following:
Think about
their child’s medical history
Write down what they know
Try
to collect photos of their
child between the ages of two and ten
Once the diagnosis is made, specific
deficits will be identified and recommendations for intervention
and treatment will be suggested.
What determines an FAS diagnosis?
There are criteria that must be met in order to confirm an FAS
diagnosis and there are two distinct categories: (1) FAS with
confirmed maternal alcohol exposure and (2) FAS without confirmed
maternal alcohol exposure. This second criteria applies when
it cannot be confirmed that a mother drank alcohol during pregnancy
such as in cases of adoption or foster parenthood. The primary
diagnostic criteria are described as follows:
(1) FAS with confirmed maternal
alcohol exposure:
A. Confirmed maternal alcohol exposure
B. Abnormal facial features (including short eye opening,
short nose, flat midface, thin upper lip and small chin)
C. Pre-natal or post-natal growth retardation (as in at
least one of the following: low birth weight for gestational
age; failure to thrive that is unrelated to nutrition; disproportional
low weight to height)
D. Neurodevelopmental impairments
(as in at least one of the following: small brain size; impaired
fine motor skills; “clumsy” and “accident-prone”;
impaired hand-eye coordination; and memory deficits)
(2) FAS without confirmed maternal alcohol exposure:
A. B, C, and D as above
Diagnosis of Fetal Alcohol Effects:
“Fetal Alcohol Effects”
(FAE) is a term used to describe the abnormalities found in persons
who do not meet all the criteria of FAS. On the one hand, a diagnosis
of FAS is justified when the child meets all criteria as stated
above: slow growth, identifying facial features, and central
nervous system damage and these are seen in association with
the mother’s consumption of alcohol during pregnancy.4
On the other hand, when a child has one or two of these signs
and the mother has consumed alcohol during the pregnancy, then
the child is said to have FAE or alcohol-related birth defects
(ARBD).5
Dr. Nora Setton, Pediatrician and Neonatologist explains FAE
as follows:
“In reality, FAE or fetal alcohol effects is a term used
to describe the anomalies (abnormalities) found in patients who
do not meet all the criteria of FAS.”
Dr. Setton describes the characteristics
of Partial FAS as follows:
A. Confirmed
alcohol consumption by mother
B. Presence
of some FAS facial features
C. Growth
retardation or neurological disorders
You may hear both professionals
and non-professionals using either term ‘Fetal Alcohol Effects’
or ‘Partial FAS’. Keep in mind that these terms mean
the same thing.
Diagnosis—the earlier the better:
Children may be identified as having FAS at birth, but most often
require reassessment in early infancy to confirm the diagnosis.
On the other hand, when these children grow older, their behavior
is usually what drives caregivers to seek a diagnosis.
It is better for an individual to be diagnosed as early as possible
in his or her life. According to prominent researcher and expert
on FAS/E, Ann P. Streissguth, being diagnosed before the age
of 6 has been deemed helpful and protective in terms of lessening
secondary disabilities. Her research shows that the problems
associated with FAS actually intensify as children move into
adulthood. Therefore, it is important that intervention strategies
be initiated right away because there is a better chance for
a positive outcome.
Another good reason for obtaining an early diagnosis, in addition
to referring an infant to appropriate services quickly, is to
prevent future affected pregnancies.
Pre-screening Assessment Tool:
This is an assessment tool developed for parents and non-medical
professionals with whom the mother and child have contact, and
who possess an understanding of FAS and related effects, as well
as knowledge of the diagnostic services that are available. These
professionals may include childcare workers, social workers,
addiction workers, speech and language pathologists, teachers
and correctional workers. They have an important role to play
in screening, referring for diagnosis, and supporting the diagnosis
(Hess and Kenner, 1998; Niccols, 1994; Conry et al., 1997; Jenkins
and Culbertson, 1996).
This assessment tool is not intended to make a diagnosis, but
can alert the parent or non-medical professional making the assessment
to the possibility of (1) an individual having FAS/E and (2)
the need to obtain a thorough and comprehensive assessment where
indicated. This tool looks at Infancy History, Physical Findings,
Communication, Socialization, Behavior, Attention, Physical Skills,
Memory, and Cognition (mental process of knowing, thinking, learning
and judging)6. There are 260 questions and a score
of more than 50 per cent points to the need for referral to a
physician who can conduct a thorough and comprehensive assessment
on the individual. There are five different versions of this
tool, depending on the age of the individual. Information on
how to obtain this assessment tool is located in the “Resources”
section at the back of this magazine.
Seeking a diagnosis:
The following may lead a parent
or caregiver to seek a diagnosis for FAS/E:
1. If a Pre-screening Assessment has been carried
out with the child and the score indicates the need for a thorough
diagnosis, and/or
2. The child displays characteristics such as those
described in the article "What is FAS/E?" found at
the beginning of this magazine.
In Canada, diagnosis is usually
carried out by medical specialists, pediatricians, geneticists
or dymorphologists (people who specialize in genetics-related
disorders). Locating the professionals or diagnostic centres
to obtain an expert diagnosis of FAS/E is not an easy feat in
Canada. Health Canada’s publication, “Situational Analysis:
FAS/FAE and the Effects of Other Substance Use During Pregnancy”
(December 2000) provides a glimpse of how services are distributed
in Canada:
Capacity
(for diagnosis) is greater in western Canada
In some cities, those seeking
a diagnosis go to genetics clinics
The shortage of diagnostic services
is most felt in communities in northern Canada
It is difficult to find doctors
who diagnose youth or adults
Where available, services to
diagnose youth or adults are obtained privately and the family
pays the costs
Where to go for diagnosis:
Finding the resources for diagnosis
of FAS/E is not an easy task. Canada has few specialized centres
with comprehensive diagnostic services. Where such services do
exist, they are generally not available to children over 18 (in
some cases, age 16) or adults.7 There is no national listing of resources
for the diagnosis of FAS/E. However, the following Diagnosis
List attempts to compensate for this lack of information by listing
the names and locations of centres where diagnosis can be carried
out, and descriptions of how they operate. Many of the following
names were extracted from lists that were located at Internet
Websites or gathered at FAS conferences where these doctors presented
on the topic.
Bibliography
1 Fetal Alcohol Syndrome:
State of Alaska Department of Health and Social Services Website:
http://health.hss.state.ak/us/fas/diagnos/html
(25 September 2001).
2 Diagnosis of FAS/FAE. http://www.mofas.org/facts/diagnosis.htm.
(19 September 2001).
3 Ibid.
4 J. Kleinfeld and S. Wescott, “Fantastic Antone
Succeeds: Experiences in Educating Children with Fetal Alcohol
Syndrome” (Alaska: University of Alaska Press, 1993.)
5 H.L. Rosett, “A clinical perspective of the
Fetal Alcohol Syndrome,” Alcoholism Clin Exp Res 4 (1980):
119-122; R.J. Sokol and S.K. Clarren, “Guidelines for use
of terminology describing the impact of prenatal alcohol on the
offspring,” Alcoholism Clin Exp Res 13 (1989):
597-598.
6 On-Line Medical Dictionary: http://www.graylab.ac.uk/omd/index.html
(19 September 2001).
7 Legge, Carol, Gary Roberts, Mollie Butler. Situational
Analysis: Fetal Alcohol Syndrome/Fetal Alcohol Effects and the
Effects of Other Substance Use
During Pregnancy. Ottawa,
ON. Health Canada. December 2000. |
