A New Diagnostic
Classification: FASD
By Kieran
O'Malley, MD
(Reprinted by permission from the
FAS Times Newsletter, Fall 2000)
It has been over
25 years since Fetal Alcohol Syndrome was described in Seattle by David Smith
and Ken Jones. The association between
prenatal alcohol exposure, facial dysmorphology, growth delay and central
nervous system dysfunction is now well established. These first 25 years of animal and human research have shown that
it is not the facial dysmorphology or growth delay that forms the major
management problem of these children, adolescents and adults, but the variable
range of central nervous system dysfunction.
Scientific research is also beginning to show that the level of CNS
dysfunction does not correlate with the level of facial dysmorphology. So it is the "hidden" disability
of FAS that becomes the greatest challenge.
Fetal Alcohol Spectrum Disorder (FASD) describes a spectrum or range of
clinical conditions associated with prenatal alcohol exposure. There are 3 subtypes:
1. Fetal Alcohol Syndrome (FAS) with full
facial dysmorphology.
2. Partial Fetal Alcohol Syndrome (PFAS) with
not all the facial dysmorphology.
3. Alcohol-Related Neurodevelopmental Disorder
(ARND) with little or no facial dysmorphology.
These subtypes
are all nicely described in the book, Fetal Alcohol Syndrome: Diagnosis,
Epidemiology, Prevention and Treatment, compiled by the Institute of Medicine,
published by National Academy Press, 1996, pp.4-5.
It is by now
widely accepted that ARND is by far the most common and problematic
subtype. These are the patients who are
unrecognized, with normal or above average IQ, and are often seen as
deliberately defiant or disruptive.
Because of this misconception, the parents are commonly blamed for causing
these behaviours through their "bad parenting."
It was
refreshing to read the survey in Summer 2000 FAS Times which showed that
pediatricians and general practitioners (GPs) are diagnosing 40% of FAS, and
44% of ARND. The access to diagnosis is
thus increasing; with it the access to treatment will also follow. Ann Streissguth and colleagues have shown
that the prevalence of mental health disorders in patients with FASD is 90%
throughout life.
Maybe the
"next generation" of researchers will begin to unravel the clinical
subtypes of ADHD, Conduct Disorder, Anxiety Disorder, Mood Disorder, Psychotic
Disorder and Language Disorder that these patients often show. It is hoped that as we train more doctors,
they will be "given permission" to formulate a working diagnosis of
ARND for children under 6 years of age with a clear history of significant
prenatal alcohol exposure and signs of neurodevelopmental delay. Then services can begin for these young
children, and their families, as they wait for a definitive dysmorphological
diagnosis. This will also offer not
just a chance to intervene earlier, but also to see if the presence of facial
dysmorphology has a significant effect on the course and type of treatment for
the child and the family.
My clinical
experience of treating patients and families with FASD over the last 9-10 years
suggests that certain clinical components are of prognostic significance. They are a history of prenatal binge
drinking, quality of the home environment (especially presence of abuse) and
level of structural brain damage. These
are consistent with the protective and risk factors quantified by Ann
Streissguth and colleagues in the Secondary Disability Study at University of
Washington (in Seattle.) We are now in an era where the brain disturbance can
be seen in neuro-chemicals, such as Dopamine, GABA or Seratonin; so our
knowledge of brain dysfunction will become more specific and link to treatment
more appropriately. Thus the chemical
actions of the medications that we use in patients with FASD will link more to
their identified neurochemical disturbance.
The FAS Times
survey was disappointing in exposing the dearth of psychiatrists involved in
diagnosis (and probably treatment.) As FASD is really a chronic neuropsychiatric
condition, unrecognized by Psychiatric Classification DSM-IV, and
(co-occurring) mental health problems are common, we all have a challenge ahead
as parents and professionals.
The new
classification, Fetal Alcohol Spectrum Disorder, offers an opportunity to
acknowledge the large majority of patients who have been affected by prenatal
alcohol exposure but who do not offer a classic facial dysmorphology, which now
keeps them members of a "hidden" population.*
A native of Ireland, Dr. Keiran O'Malley is Acting Assistant Professor in the Department of Psychiatry and Behavioral Sciences at the University of Washington. He also has a Community Psychiatry Consultation practice in Calgary, Alberta, Canada, limited to patients with Fetal Alcohol Spectrum Disorder and Autistic Spectrum Disorder.
See article in the July 2000,
"Seminars in Clinical Neuropsychiatry," authors Streissguth and
O'Malley. FAS Times is published by FAS
Family Resource Institute, P.O. Box
2525 Lynnwood, WA 98036. To subscribe,
phone (253) 531-2878 or e-mail http://www.fetalalcoholsyndrome.org/publish.htm.