Diagnosis

by Lylee Williams

 

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.