FASD- A Medical Perspective. Presented at North Bay, Ontario, Sept.9th., 2004.

Sadly, there is no common medical perspective of FASD in Canada. There are a few physicians who have a deep and broad knowledge of FASD. The majority know very little of it however, many are indifferent and some are even hostile to making the diagnosis and treating it for the unique disability that it is.So I shall present this from my own medical perspective, influenced by the fact that I am also the father of John, 28 years old, recently and finally diagnosed as having Alcohol Related Neurodevelopment Disorder.FASD has been with us since humans first discovered alcohol.References to its effect when taken during pregnancy can be found in the works of Aristotle [384-322 B.C.], Diogenese [cir. 400 B.C.] and Plutarch [45-125 A.D.].The Bible, Judges 13:7 instructs “Behold, thou shalt conceive and bear a son: And now, drink no wine or strong drink.”Navajo oral history states “women who drink crazy water when bearing a child, will give birth to a child crazy in body and mind.The first modern account of FAS was a thesis by Dr.Jaqueline Roulette of Paris, France in 1957, 47 years ago.Entitled - “Influences of the parental alcoholic intoxication on the physical and psychological development of 100 young children”.It was filed and forgotten.Coincidentally, Dr. Paul Lemoine, a pediatrician of Nantes, France was making similar observations. In March, 1964 he reported his findings in 15 children, “Effects of Maternal Alcoholism in the Offspring” to the Medico-Surgical Society of Nantes Hospitals. To quote Dr.Lemoine - “with no great response.”Three years later in April, 1967 he presented a more detailed report to the Pediatric Society of the West [France]. - “ The children of alcoholic mothers, observed anomalies, discussion of 127 cases.” This was published the following year in the french journal l’Ouest Medical.It received little attention in France and none in other countries.It was to be another 6 years before the cries of FAS infants were heard.On a pediatric ward of a Seattle hospital a resident made an observation.She noted that there were a small number of infants who all looked the same and had been born to alcoholic mothers. She drew this to the attention of the pediatrician. The result was an article in the British medical journal, “The Lancet” , June 9th, 1973, entitled, “Pattern of Malformation in Offspring of Chronic Alcoholic Mothers” by K.L. Jones et.al.For the first time, thirty one years ago, this condition received world wide

attention and was give the name “Fetal Alcohol Syndrome” - the components being Neonatal Growth Deficiencies, Characteristic Facial Features and C.N.S. dysfunction.The facial features are microcephaly, short palpable fissures,indistinct philtrum, thin upper lip, epicanthal folds, flat mid - face.Although other conditions have similar facial anomalies, the FAS face is specific. However, the developed guidelines need to be followed when taking the facial measurements. The traditional, gestalt manner of assessing the FAS face can lead to errors of diagnosis.FAS children are often attractive and appealing.Once it had been identified, the next step was to determine how big the problem was. That is to say, what was the incidence and prevalence of the condition?Incidence is usually measured as the number per 1000 births over a period. Prevalence is the total number of cases in a given area at a certain time.Interestingly Prevalence is rarely determined in studies, unless it related to a small community, usually aboriginal. Perhaps because the Prevalence of FAS [ and FASD] is so great in our society that everyone is scared to go there. But, the longer we avoid the issue the worse it gets.There are three ways we can determine the Incidence and Prevalence-Passive Surveillance, Clinic Based- prospective and Active Case Centres.Passive Surveillance was the first to be used. It is the least expensive method but the least accurate. Retrospective studies of birth certificates, hospital and physician records etc. were done. The problem was, and still is, that these records were very deficient. Often the diagnosis of FAS had not been considered, and to this day this is the case. Consequently, estimates of FAS were low using this method - 0.2 to 0.67 per 1000 births.Clinic Based Prospective Studies were more accurate. Appropriate studies were established in prenatal clinics. Data was obtained regarding the mother’s health, alcohol intake etc., before, during and after the pregnancy. Assessment of the baby was made at birth The problems with this method were that mothers at most risk tended not to use clinics. Those that did may not have been representative of the general population, depending on the location of the clinic.The diagnostic features of FAS may be less noticeable at birth. The diagnosis is most accurate when made after the age of 3yrs. The C.N.S. dysfunction becomes more obvious as the child develops.The Incidence with this method was 1.9 to 2.2 per 1000 births.Active Case Centres provide the most accurate diagnosis and can be reproduced for each individual at different times,whereas other methods lead to a wide variation of diagnoses in these children.Active Case Centres search for mothers and children who are at risk. Referrals are encouraged and referral networks developed. The diagnosis is made by a number of professionals, each an expert in a particular aspect of FAS. St. Michael’s Hospital, Toronto, is an example of such a

Centre.The system used is known as the 4-Digit Diagnostic Code. It was developed at the University of Washington School of Medicine, Seattle, Washington, U.SA.Because these Centres are pro-active early intervention is more likely with the potential for reducing secondary disabilities.The Incidence using this method is 2 to 4 per 1000 While FAS was gradually being investigated in North America Dr.Lemoine was continuing his lonely work. After retiring he followed his children up and made observations that were also confirmed by others researching FAS.He noted that all the intellectual deficits and maladaptive behavior persisted.In addition he noted that the facial features changed, they often developed a large nose and chin.This is significant as it adds to the difficulty of making the FAS diagnosis once the person becomes an adult.Most important of all he made the following observation. To quote him- “An important finding has struck and worried me most-- 14 offspring of alcoholic mothers, considered normal at birth with no visible facial dystrophy, have been found as adults to have the same psychological problems and maladaptive behavior.---” The FAS children, 2 to 4 per 1000, were just the tip of the iceberg.Initially the term Fetal Alcohol Effects was used to describe individuals who had all the problems of FAS but not the facial features. The question was, what is the Incidence of FAE?Dr. Lemoine’s concerns can be understood when we look at how alcohol effects the developing fetus.The brain is effected throughout the pregnancy.The mechanism in which alcohol damages the brain changes as the pregnancy develops however.The facial features of FAS only occur if the mother drinks during a short period in the first trimester. We can see now that the facial features are irrelevant and insignificant as far as the neurological damage is concerned.The problem is that up to now the facial features have been the only precise diagnostic feature. There has been a great tendency for society to only pay attention to the few who have the facial features and ignore the great majority of FASD individuals who do not have them.It became apparent that the term FAE was unsatisfactory. It had not been defined and different professionals interpreted it differently.In 1996 the Institute of Medicine, Washington, U.S.A, with consensus from many interested parties, defined nomenclature for FAS. and related conditions.FAS- Fetal Alcohol SyndromeARND - Alcohol Related Neurodevelopmental Disorder

FASD - Fetal Alcohol Spectrum Disorder covers both FAS snd ARND.The Institute of Medicine criteria are, in my opinion, a political compromise.I say that because they stipulate that a pattern of excessive intake characterized by substantial, regular intake or heavy episodic drinking is required in order to diagnose A.R.N.D., even though it is known that FAS can occur, and many individuals can fulfill the diagnostic criteria for A.R.N.D. even though their mothers drank much less - at the same time the I.O.M. advises that women who are pregnant or at risk for pregnancy should abstain from alcohol. The Candian criteria are more realistic. A history of execessive alcohol is not required. There seems to be a resistance to acknowledging the extent of FASD.When we look at the Incidence of FAS and ARND combined the facts become more alarming. Perhaps this is why , as far as I know, there has only been one study done.In 1997, using the 4-Digit Code, studies from the University of Washington showed that the Incidence of FAS and FAE [ARND] was 9.1 per 1000.This is likely an under estimation since the diagnosis of FAE [ARND] is only made when there is a history of maternal drinking and studies show that only one in twenty mothers are able to admit that they drank when pregnant.So, if FAS is just the tip of the iceberg, and ARND is the hidden part of the iceberg, then FASD is the total iceberg.One in evey hundred children born has FASD.How then is the FASD individual affected?The impaired neurological functions that they suffer from are - - auditory memory impairment for verbal recall- intrusive errors such as embellishing-impaired spacial learning-attention disorders, perseverance and response inhibition-sensory defects, increased habituation-impaired executive functioning-impaired fine motor skills-I.Q. below, average or above averageImpaired memory creates many difficulties, such as not learning from experience. Embellishing is usually interpreted as lying.Attention Disorders are linked to Perseverance and Habituation problems.The attention disorder of FASD is different to that of the pure ADD.Habituation is shutting out information that we do not need e.g. the chimes of the clock do not wake us up. The FASD person habituates too much. The pure ADD person not enough.The FASD person focuses to the exclusion of important information and when the focus is interrupted will often react badly. The pure ADD person happily pursues any distraction that come his/her way..Since the FASD person habituates too much he/she perseverates i.e. focuses inappropriately, usually on the wrong topic for the moment and not to any lasting degree that would allow long term planning etc.

If we listern to them we can understand them. I listerned to Bill and I learned a lot. He was very angry one day. “She never supports me, never encourages me. She is always negative” he yelled. His mother sat quietly, resigned, letting his fury wash over her. She had been there many times before. So what’s the problem? “ I’ve got a job and all she can do is be negative about it.” It sounded great to me. So I asked Bill’s mother what was the problem? She sighed. “ Its always the same, he gets a job, doesn’t tell welfare, they find out, he loses his job, we have to support him again and we can’t afford it.” “That’s the point. I don’t want to depend on you.” Bill is really angry now. Listern to what he is saying- “I don’t want to depend on you.” But Bill, you do understand- if you don’t tell welfare they will cut you off and your mother will have to pay your rent. I should not have said anything.“Of course I understand, you don’t understand. I don’t want to have to depend on my mother.” and he stormed out of the office. Bill was right. I did not understand, but I was getting there. A month later they returned. Bill was depressed, his chin down by his knees. His mother was as resigned as ever. “Welfare found out about the job, they have stopped paying him, his boss found out and sacked him, so we are back paying for everying.”Bill wasn’t angry any more. You did understand Bill, that you would lose everthing if you didn’t tell welfare? We talked about it.“Yes, but I didn’t want to depend on her”Listern to him-“Yes, but I didn’t want to depend on her.’That’s when it hit me- when I connected the habituation and perseverence dysfunction Bill had been born with, with the chaos he created for himself and others. He understood, but could not accept information that clashed with his plans. When challenged he got angry. After the event he understood again. Ask him why he did this when he understood it was the wrong thing to do his answer was- “I don’t know” and that is the answer you always get from those afflicted with FASD. They do not know why they did it when they knew it was a bad idea before and after.The I.Q. varies. This creates serious problems when the I.Q. is normal or above average. They do not meet the expectations of parents and teachers. This means they are often considered to have a behavioral problem when they also have a learning problem.Neurological impairments lead then to what we call Primary Disabilities--disabilities that are inherent in FASD individuals and are a consequence of the neurological damage and impaired neurological function.Primary disabilities include impulsiveness, confabulation, learning disabilities - especially math., poor hygiene, difficulty with relationships,

boundary defects, poor judgment, inability to lean from experience and concrete thinking ie. difficulty with understanding the abstractions of every day speech.He was 14 years old. His mother asked him to put some garbage out. The next day racoons had scatterd the garbage all over the front yard.He had done as he was told- taken the garbage out. If he had been told to put it in the bin he would have done so. He was not being lazy or obstructive. He simply could not make the abstract connection between taking it out and putting it in the bin.In 1996 a report was published out of the University of Washington. - Understanding the Occurrence of Secondary Disabilities in Clients with Fetal Alcohol Syndrome and Fetal Alcohol Effects, by Ann Streissguth et.al.They had followed up their FASD children and found that they had a lot of problems as they grew older.They called these problems Secondary Disabilities.95% went on to have mental health problems, 65% had disrupted school experience, 60% had trouble with the law, 60% had been confined in special homes, prison etc., 55% had inappropriate sexual behavior, 45% had drug and alcohol problems, 80% could not live independently and 80% had problems with employment.The study showed that of the 95% who had mental health problems 60% would go on to be diagnosed as attention deficit problems, 50% would develop depression, 40% would threaten suicide, 35% would have panic attacks [ by inference, many more would have had anxiety problems], 30% had psychotic symptoms and over 20% attempted suicide.Another study in 1998 added bipolar 1, eating disorder and personality disorder to the list.Ten per cent of Canadians are reported to have mental health problems.One per cent of Canadians have FASD of whom 95% will have the secondary disability of mental health problems. It follows that almost one in ten patients seen by mental health workers must be FASD.Yet patients seen for mental health problems very rarely have the diagnosis of FASD. It follows that FASD is being missed or misdiagnosed.The Diagnostic and Statistical Manual of Mental Disorders is published by the American Psychiatric Association. It describes all the mental disorders and is the standard reference for psychiatrists in North America.It contains over 300 diagnoses and sub-diagnoses. [ I gave up counting at 300 ]It contains no reference to FAS, FAE, ARND or FASD.The closest it gets to the diagnosis is under Mental Retardation, Predisposing factors- where it states “early alterations of embryonic development -- includes damage due to toxins [e.g. maternal alcohol consumption ]” Yet it has pages devoted to mental retardation, ADHD, autisim, learning disorders, motor skill disorders, communication

disorders, asperger’s disorder etc. Very few of these conditions have a physical component that is diagnostic as in FAS. If we do not know of a diagnosis it can not be diagnosed. We can not find what we are not looking for. The question is- why is it that thirty years after the diagnosis was first made, FAS is so rarely considered or looked for?Those of us who live or work with FASD individuals will recognize them in the descriptions of many of the disorders listed in the Diagnostic and Statistical Manual.Before we blame psychiatry for our FASD woes I should point out that the same concerns could be expressed about our educational system, judicial system, welfare system etc.I, myself knew that a condition called FAS existed, but up to four years ago that is all I knew.A teacher of special education tells me that over a period of 25yrs as teacher and principal, she doubts if she has seen more than ten children with the diagnosis of FAS.Two retired obstetricians tell me they never recognized a single case of FAS.When I started psychotherapy and marriage counseling, like most therapists, I had no understanding of FASD.As I came to understand the condition I began to realize that many patients I was seeing in my office were probably FASD or the parents of an FASD child.FASD children create stress in the marriage. One or both of the parents seek therapy and it becomes apparent that their child might be FASD.Adults who come for depression, anger, anxiety etc. often have a history of primary and secondary disabilities. In some of these cases a history of maternal drinking can be obtained.If I had to choose one word to describe those who are afflicted with FASD it would be “chaos”. Their lives are chaotic. When one looks back over the life of an FASD adult, that is what one sees -a life of continuous chaos.Often, there are moments when they say or do something that resonates with the potential that they would have had, were they not FASD.Tragically they often seem to be in some way aware of these potentials. Often their struggle is reconciling what they feel they should be able to achieve with the fact that they are not able to achieve it.Sean’ story is identical to hundreds of othersHe came to see me because he was depressed and angry. He had lost his job - one of many. He had a history of all the primary and secondary disabilities. At the time he was living common law. He and his partner had an infant daughter whom he loved very much.They could not get along together however. He eventually left the home because he could not stand the arguing.He brought in some childhood photographs that showed the typical features of FAS.

His mother was a heavy drinker and has acknowledged that she drank alcohol when pregnant with Sean.I was hoping to have Sean diagnosed at St.Michael’s but as is so often the case, he seems to have drifted away. I have not seem him for some months now.For thirty one years we have known of FAS and we have increasingly become aware that FAS is just the tip of the iceberg.There has been a lot of activity, especially in prevention, yet there has been so little progress. There is no indication that the Incidence is declining.Prevention is vital to the elimination of FASD, but I am convinced that we will have no significant progress until we have Diagnostic Centres that are able to diagnose the full spectrum of this condition and can meet the need that is out there.

B.Stanley.bstanley@cogeco.net

References.

Understanding the Occurrence of Secondary Disbilities in Clients with Fetal Alcohol Syndrome [FAS] and Fetal Alcohol Effects [FAE], Final Report, August 1996., Ann P. Streissguth et.al., Fetal Alcohol and Drug Unit, University of Washington School of Medicine.

Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention and Treatment, [1996 ], Institute of Medicine, Washington, D.C., U.S.A.

The History of Alcoholic Fetopathies [ 1997 ]Paul Lemoine, M.D., Nantes, France., JFAS Int. April, 2003.

Incidence of Fetal Alcohol Syndrome and Prevalence--P.D.Sampson et.al., Teratology, 56:317-326 [1997 ]

Diagnosing The Full Spectrum of Fetal Alcohol-Exposed Individuals:Introducing The 4-Digit Diagnostic Code., Susan J. Astley, Sterling K. Clarren., Alcohol and Alcoholism., Vol.35., No.4, 2000.

Estimating the Prevalence of Fetal Alcohol Syndrome.P.A.May et.al., Alcohol, Research and Health., Vol.25, No 3, 2001.

The Effects of Prenatal Alcohol Exposure on Executive FunctioningP.W.Kodituwakku et.al., Alcohol Research and Health, Vol.25, No.3, 2001.

Teratogenic Effects of Alcohol on Brain and BehaviorS.N.Mattson et.al., Alcohol Research and Health, Vol.25, No.3, 2001.

Fetal Alcohol Exposure and Attention: Moving Beyond ADHD.Clair Coles, Director, Fetal Alcohol Centre, Marcus Institute, Emory University, Atlanta, Georgia., Alcohol Research and Health, Vol.25, No.3, 2001.

An Introduction to the Problem of Alcohol Related Birth Defects.www.med.unc.edu/alcohol/ed/fas/slidesFetal Toxicology Division, Bowles Centre for Alcohol Studies, University of North Carolina.

Final Report on Prenatal Exposure of Alcohol by Professor Peter Hepper, Queen’s University, Belfast, Northern Ireland. 2004.