Chapter 1: Assessment and diagnosis of FASD among adults: a national and international systematic review – Introduction

1.0 Introduction

The cornerstone of responding to Fetal Alcohol Spectrum Disorder (FASD) is assessment and diagnosis. Medical, psychological, occupational therapy, speech and language pathology assessments, along with a detailed social history are critical components of the assessment process for FASD. Sensitive guidelines have been developed to support the diagnostic process. These include the Canadian Guidelines for Diagnosis (Chudley et al., 2005), 4-Digit Diagnostic Code (Astley & Clarren, 1999) and the U.S. Institute of Medicine guidelines (Institute of Medicine, 1996, as cited in Hoyme et al., 2005). The term “Fetal Alcohol Syndrome” (FAS) is primarily used in literature that predates 2000 (Jones, Smith, Ulleland & Streissguth, 1973), while literature post-2000 often refers to the term “FASD” (Streissguth & O’Malley, 2000).

Chudley, Kilgour, Cranston and Edwards (2007) described the wide range of features characterized by the various diagnoses within the spectrum of FASD diagnoses as those diagnosed with FAS at one end and those with behavioural and cognitive deficits who may have minimal or no physical characteristics but who have sustained brain injury due to in utero alcohol exposure at the other end. The diagnostic terms encompassed by FASD as per the published recommendations of the U.S. Institute of Medicine in 1996 include FAS (Jones, Smith, Ulleland & Streissguth, 1973), Partial FAS (pFAS), which was previously referred to in the literature as Fetal Alcohol Effects (FAE) (Streissguth et al., 1991; Streissguth, Barr, Kogan & Bookstein, 1997) and a more recent addition to the terminology – Alcohol Related Neurodevelopmental Disorder (ARND) (Sampson et al., 1997; Stratton, Howe & Battaglia, 1996) and Alcohol-Related Birth Defects (ARBD). It was recommended by medical experts Aase, Jones and Clarren (1995) that FAE not be used due to negative interpretations and misconceptions related to this term, particularly regarding the issue that fetal alcohol exposure was the sole cause of problems for the individual. The 4-Digit Diagnostic Code does not use ARND and indicates that “static encephalopathy” is a term that is used to reflect more severe neurodevelopmental problems, while the term “neurobehavioural disorder” reflects a milder problem (Astley, 2006).

1.1 Project Scope

The purpose of this project is to provide an overview of the existing Canadian and international literature on techniques and best practices for the diagnosis and assessment of adults for the impact of in utero exposure to alcohol. The parameters were as follows:

1. Conduct a systematic search and assembly of Canadian and select international, empirical and qualitative literature and data on the assessment and diagnosis of adults for the impact of in utero exposure to alcohol.
2. Create a synthesis and critical review of the information obtained, including the identification of strengths, limitations and gaps.
3. Prepare recommendations of next steps for areas of further research.

1.2 Adult Diagnosis in Context

At the root of the social problems associated with FASD is the problematic use of alcohol. The Alberta government, through the Alberta Alcohol and Drug Abuse Commission (AADAC), offers multiple counselling and treatment programs for people struggling with abuse of both alcohol and drugs. On November 18, 2008, the Canadian Executive Council on Addictions, the Canadian Centre on Substance Abuse, Centre for Addiction and Mental Health and BC Mental Health & Addiction Services announced the development of a new strategic initiative focused on a national treatment strategy for those with substance use problems. This research group indicates that the cost of substance abuse in Canada is close to $40 billion annually and raises concerns about the lack of a national strategy. In the interest of prevention of FASD, a consistent approach to the problematic use of alcohol within society is critical. Due to the diversity of programs across Canada, this group recommends a “Tiered Model of Services and Supports” that recognizes “acuity, chronicity and complexity of substance use risks and harms, and their corresponding intensity.”^{Footnote 2} This report is raising a critical discourse on the need to address issues of consistency relevant to approaches to substance use treatment from a national perspective.

In 2008, AADAC programs were rolled into existing programs under the auspices of Alberta Health, but future directions were still unknown at the time of writing. The Canadian Executive Council on Addiction, the Canadian Centre on Substance Abuse (CCSA) and Health Canada released a report in 2004 called the Canadian Addiction Survey (cited in Alberta Alcohol and Drug Abuse Commission, 2006). The report’s focus was on the alcohol and drug use of Canadians over the age of 15, and reported that

“17% (13.6% of all Canadians) are considered high risk drinkers.… The proportion of women drinkers identified as high risk are 8.9% and of men 25.1%”

(p. 4). Alberta ranked as one of the five highest provinces in terms of overall lifetime alcohol use. This is a substantial problem and affects many people, as alcohol is an integral part of the socialization processes in society. Key harms identified by CCSA and Health Canada due to alcohol use were in relation to physical health over the lifetime (11.6%), social life (10.5%), followed in descending order by home life, work and finances. This survey offered a profile of the problems associated with alcohol consumption and brought attention to concerns about the use of alcohol in Canadian society and the perceived consequences of the problems associated with its use.

The concept of FAS had its origins in the early 1960s. An article entitled The children of alcoholic mothers, observed anomalies, discussion of 127 cases, was published in the French Archives of Paediatrics by pediatrician, Dr. Paul Lemoine in 1968. Lemoine (2003) stated:

Around 1960, two French studies independently proved for the first time the true dangers of alcohol use in pregnant women. The first was Jaqueline Rouquette’s thesis entitled “Influences of the parental alcoholic intoxication on the physical and psychological development of young children” [written in Paris, France, 1957]. This work directly involved the study of children of alcoholics.… She observed effects on the children, especially with maternal alcoholism, and she presented a clear description of alcoholic fetopathies, as they are known today. This thesis appears to have been ignored – a fact that surprised me when I later discovered it while preparing a bibliography.

The second study, by me [Lemoine], started with no pre-conceived thoughts about alcoholism. It was while researching the cause of a strange dystrophy seen in certain children that I discovered alcoholism in their mothers.… Around 1960, I was struck by the existence of a yet unknown syndrome among these children…the children all looked as if they were siblings.… I was comparing two of these children looking for an answer, and while talking to the staff as I always did, one of them responsible for the two children indicated to me that both of their mothers were heavily alcohol dependent.… All of the children marked by this syndrome had alcoholic mothers. (Lemoine, 2003, p. 2)

Lemoine described a methodology in which he both physically observed children in his practice as a pediatrician and subsequently did file reviews of each case. However, the genesis of the terminology FAS did not spring from Lemoine’s work in 1960 as one would expect. Lemoine (2003) had used the term “alcoholic fetopathies,” which he indicated meant the same as the North American term “FAS.”

The term “Fetal Alcohol Syndrome” (FAS) came from the discovery of facial and physical anomalies by a specialized field of study in medicine called dysmorphology. The first article published in North America in The Lancet was entitled “Pattern of malformation in offspring of chronic alcoholic mothers” (Jones, Smith, Ulleland & Streissguth, 1973, p. 1). The findings of this article are highlighted:

Eight unrelated children of three different ethnic groups, all born to mothers who were chronic alcoholics, have a similar pattern of craniofacial, limb, and cardiovascular defects associated with prenatal-onset growth deficiency and developmental delay. This seems to be the first reported association between maternal alcoholism and aberrant morphogenesis in the offspring.… Eight children born of alcoholic mothers were brought together and evaluated at the same time by the same observers (K.J. and D.W.S.). Four of these children were recognised as having a similar pattern of altered growth and morphogenesis. Thereafter, two other children were ascertained by the abnormal features identified in the first four patients, while the remaining two affected children were ascertained because their mothers were chronically alcoholic.… All drank excessively throughout the pregnancy, the mothers of patients 1 and 7 to the extent that they were in hospital with delirium tremens. Patient 3 was born while her mother was in an alcoholic stupor. None of the mothers was known to be addicted to any other drug. (Jones, Smith, Ulleland & Streissguth, 1973, pp. 1267–1271)

Streissguth (1994), in her review of the first decade of research into FAS, highlighted the international nature of the studies citing Lemoine, Harousseau, Borteyru and Menuet in 1968 and Dehaene et al. in 1977 emerging from France; German contributions by Majewski et al. in 1976; from Sweden the research by Olegard et al. in 1979; and research surfacing from the United States by Jones, Smith, Ulleland and Streissguth (1973). Research across the intervening decades, although dominated by North America, has continued to arouse interests from other countries (e.g. Riley et al., 2003 presented six international perspectives on the neurobehavioural consequences of fetal alcohol exposure in South Africa, the United States, Russia and Finland). Another indicator of international research is the studies comparing findings from multiple countries, such as those of Peadon, Fremantle, Bower and Elliott (2008) who sent questionnaires to diagnostic clinics in Canada, the United States, Chile, South Africa, Italy and the United Kingdom; and Moore et al. (2007), who included in their sample 276 subjects from three international sites (i.e. South Africa, Finland and the United States). A report on the proceedings of a workshop held in Japan in 2000 acknowledges research contributions from the United States, South Africa, Japan, Russia and Germany (Warren et al., 2001).

Since FAS was identified in the medical research literature only in 1973, it took a number of years for this information to filter out to social services, community health, physicians and allied professionals that may have come into contact with individuals with FAS/FASD and the publications were primarily medical in origin. It is believed that many individuals with disabilities related to fetal alcohol exposure were served in the developmental disability field and mental health, as diagnostic clinics had not yet been established outside of the early seminal work at the University of Seattle, Washington. Many individuals were served in the disability field with disabilities of unknown origin. In retrospect, with what we now know about FASD, it is likely that service provision occurred through this system. For example, from one author’s work in the field of child welfare between 1986 and 2002, she encountered both children and adults where it was known their disabilities were caused by fetal alcohol exposure. The family of origin’s social histories indicated serious problems with alcoholism that led to their contact with the child welfare system (Badry, 2008).

The 1980s brought the emergence of concerns regarding adolescent and adult development vis-à-vis diagnosed FASD, and the consideration of FASD across the lifespan. The reluctance to make initial diagnoses in these age groups was overcome with the publication of 10-year follow-up studies in the United States, France and Germany. Streissguth (1994) commented on the findings of these studies, which focused on the long-term central nervous system (CNS) involvement:

“The decreasing specificity of the face and growth deficiency after puberty only explains why initial identification of people with FAS after puberty can be more difficult.”

“In FAS, the physical features are only the markers for the CNS deficits.… Although the physical features associated with FAS may change in adolescence, the CNS problems continue, often with more severe repercussions than those experienced in early childhood” (p. 75). Adaptive living deficits resulting from CNS deficits meant that those with IQs in the low normal range seemed “headed for ‘The decreasing specificity of the face and growth deficiency after puberty only explains why initial identification of people with FAS after puberty can be more difficult.’” (Trouble in the community, p. 76). This finding has been supported by other research studies (e.g. Clark, Minnes, Lutke & Ouellette-Kuntz, 2008; Dyer, Alberts & Neimann, 1997; Grant, Huggins, Connor & Streissguth, 2005; Kerns, Don, Mateer & Streissguth, 1997) as well as the practice literature.

Knowledge about FASD has grown and evolved with each passing decade. The 1990s saw the emergence of a new phase of diagnostic development. There appeared to be two different schools of thought in the United States in terms of diagnosis based on standards set by the U.S. Institute of Medicine (Stratton, Howe & Battaglia, 1996) and the 4-Digit Diagnostic Code (Astley & Clarren, 1999). Diagnosis relies heavily on classification systems, which provide a portrait of the characteristics that constitute a particular condition or disease. A Canadian model for diagnosis has drawn on both the U.S. Institute of Medicine (1996, as cited in Hoyme et al., 2005) literature and the Diagnostic Prevention Network 4-Digit Diagnostic Code developed by Astley & Clarren (1999). The Canadian guidelines retained the standards of the 4-Digit Diagnostic Code and the spectrum terminology of FASD from the U.S. Institute of Medicine (IOM) model. The Canadian guidelines for a diagnosis of FAS include: “evidence of prenatal growth impairment [related to weight and height], simultaneous presentation of 3 [particular] facial features, evidence of impairment in 3 [particular] … central nervous domains [and] confirmed (or unconfirmed) maternal alcohol exposure” (Chudley et al., 2005, pp. s11–s12).

Another trend in the closing years of the past century was a focus on identifying and raising awareness of the secondary conditions that are likely to arise as persons with FASD age. These conditions are a consequence of the primary disabilities related to CNS abnormalities. The pivotal work of Streissguth, Barr, Kogan & Bookstein (1997) suggested that diagnosis before age six is a mediating factor against the development of serious social problems, which she identified as secondary disabilities. There is agreement among professionals who work with those living with alcohol-related disabilities that diagnosis is important to develop support plans that will assist individuals in negotiating home, educational, social and community environments. Although significant resources have been designated in the interest of diagnosing children suspected to have FASD, similar resources do not exist for adults. The purpose of this review was to determine what exists in both academic and grey literature that is relevant to the issue of adult diagnosis of FASD.

FASD research and clinical practice in the early 2000s are focusing on seeking more reliable prevalence rates, the diagnosis of adults, and intervention for children, adolescents and adults in the post-diagnosis period and across the lifespan. For example, in a study of current research on interventions related to FASD, Premji, Benzies, Serrett and Hayden (2007) suggested that there is little research available to guide interventions for children and youth (this is even more so with adults). This study highlights that supports for children living with disabilities as a result of fetal alcohol exposure are not yet developed. Real prevalence rates do not exist and are not tracked on any single database, so there is no overall profile of persons with FAS/FASD in Canada. Premji and colleagues have identified a lack of intervention literature for children and the same problem exists in the adult world.

Hutson (2006) estimated that

“3000 babies are born with FASD in Canada”

every year and cited a report from Farris-Manning and Zandstra (2003) which further estimates “that 50% of children in care in Alberta have FAS” (p. 2). Alberta Health Services suggested that it is estimated that 9 of every 1,000 births have an FASD. Fuchs, Burnside, Marchenski and Mudry (2005), in their research of children in the care of child welfare agencies in Manitoba, estimated that 17% of children in care have an FASD. Variance among prevalence rates exists, as there is no coordinated approach to gathering this information in Canada.

Concerns about alcohol use and pregnancy have been raised as emerging concerns in other countries (e.g. alcohol use during pregnancy in “3000 babies are born with FASD in Canada” Russia is a serious problem, which the West recently became more aware of, due to international adoptions of children from orphanages into Canada, the United States and other countries). One study by Miller et al. (2006) examined an orphanage in Russia, and considered the use of alcohol within this society. “Alcohol use in Russia is staggering; the annual consumption is among the highest in the world” (p. 532). Miller and colleagues estimated that 58% of children (n = 234) in a particular orphanage showed visible symptomology of “prenatal alcohol exposure” (p. 531). This prevalence rate was determined through a multi-level examination that included file reviews, growth measurements, and an assessment of children using the phenotype or facial screening assessment (Astley & Clarren, 1996). Developmental assessments were reviewed for 112 children, of whom “21 (19%) had mild delays, 45 (40%) had moderate delays and 12 (11%) had severe delays.… More than 70% of children with high phenotypic scores were categorized as moderate or severe delay” (Miller et al., 2006, p. 536). There are multiple conditions in institutions that contribute to the developmental problems of children living in congregate care where there are limited opportunities for stimulation.

Figure 1 : Developmental assessments reviewed for 112 children

The diagnosis of adults is an evolving field and is in its early origins. At present, Sullivan (2008), specifically in reference to adults, has suggested that because “diagnosis still rests upon retrospective information, and often is not made until the life trajectory is firmly set, these patients may be referred for psychiatric evaluation from a wide range of settings” (p. 215). Concerns related to mental health are substantial, and Sullivan (2008) focused on the underlying vulnerabilities and problems in life adaptations, including “poor parental role modeling, disturbed development of trust and identity, patterns of avoidant coping behaviour, dysfunctional adolescents and adult relationships, and economic disadvantage” (p. 226). Major trend(s) in the new millennium in FASD research must include the evolution of research agendas that focus on post-diagnosis supportive practice and casework for adults. Diagnosis needs to be followed with a response that includes developing a support system and case planning tailored to the specific needs of the individual.

1.3 Need for Adult Assessment and Diagnosis

There are several reasons why there is a need to address adult diagnosis and assessment. First, FASD has been identified as a major public health concern in Canada and other international jurisdictions (Moore et al., 2007; Peadon, Fremantle, Bower & Elliott, 2008; Warren et al., 2001). FASD is recognized as a disability that is expensive to manage, and these concerns are magnified because the condition is preventable through abstention from alcohol during pregnancy. This has prompted many Canadian provinces to make, or to engage in the process of making strategic plans for preventing FASD, as well as to identify and intervene with children, adolescents and adults diagnosed with one or more of the multiple conditions associated with FASD. In part, the substantial response to the needs of children for diagnosis and treatment of FASD has paved the path in terms of recognition that similar services are required for many adults who are undiagnosed and demonstrating struggles associated with FASD. As these strategic provincial plans are enacted and public awareness raised, it can be expected that more adult referrals will be made to the diagnostic clinics and programs that exist or that will be established as part of the resources to implement these plans.

Second, epidemiological estimates for FASD within the general population have been established, having been extrapolated from clinical and research data. However, there are no estimates of how many children are actually diagnosed with FAS or its related disorders in Canada, or how many children grow to adolescence or adulthood without an appropriate diagnosis (Clarren & Lutke, 2008). We do know, however, that adults are presenting themselves at diagnostic clinics or programs with suspected FASD but have operated below the diagnostic radar to date. Clarren and Lutke (2008), in a 2006 survey, identified a total of 27 programs in Western and Northern Canada engaged in FASD diagnostic activity. They reported an astounding rate (67%), of those referred to clinics, receiving some form of FASD diagnosis. This research identified the concerns about the lack of prevalence rates for Canada, while highlighting the need for ongoing diagnosis, research and diagnostic consistency.

This highlights a third need for adult assessment and diagnosis information – the inconsistency of diagnosis in relation to adults. There are many adults who are never diagnosed, misdiagnosed and even self-diagnosed as having an FASD. Standard practice in relation to diagnosis for adults is not well established in Canada or elsewhere. The potential exists for the successful strategies used in the diagnosis of children and adolescents to be applied to adults, as evidenced by the strategies of the few existing clinics that diagnose adults in Canada (Clarren & Lutke, 2008). It is also important to understand and codify the differences that should be taken into account when dealing with an adult population not previously diagnosed. With greater clarity around diagnosis, efforts could be initiated to have FASD recognized as a disabling condition that requires funding by governments, designated for assessment and support services. Perhaps this will lead to services related to diagnosis and assessment being covered by provincial health care.

There is a need to alert health, mental health, the justice system and social service workers to the similarity and differences in diagnostic criteria when dealing with adult populations as opposed to children. These professionals will be among those likely to be screening clients whom they suspect may have one of the disorders associated with exposure to alcohol in utero. Providing screening standards and tools could mean that vulnerable adults begin to receive the understanding and services appropriate to their needs.

Accurate diagnosis is important since many secondary conditions could be prevented with appropriate intervention (Malisza et al., 2005) or their effects reduced to improve the quality of life for individuals with FASD (Streissguth, 1997). These conditions (e.g. mental health concerns) make it difficult for affected individuals to function. They know that they struggle, but in the absence of a diagnosis, they do not understand or know “why.” Capital Health Edmonton and Area (2005) in its learning module for health and social service workers outlines two primary reasons why it is important to conduct adult diagnosis of FASD. First, some secondary conditions associated with FASD (e.g. trouble with the law, mental health issues, transience and homelessness) can be overcome or their impact reduced with intervention and support (Streissguth, 1997). Affected persons can be referred to diagnostic, advocacy and support services that will assist them in their daily life, their relationships and employment. Second, both they and their support network often experience relief when they understand the root cause – a disabling brain injury – which accounts for many of the difficulties experienced. This rationale for adult diagnosis was reiterated by the Asante Centre (2008) in British Columbia, which recognizes that a benefit of receiving an adult FASD assessment and diagnosis is that individuals have an opportunity to understand themselves better through recognizing their unique set of strengths and weaknesses, and may receive answers as to why they have experienced the challenges they have faced throughout their life.

The Asante Centre also recognizes that adults with an FASD diagnosis may then have access to services that are better able to meet their needs, and could help others know how best to offer support. The Lakeland FASD Centre located in Cold Lake, Alberta, which covers a vast rural area, began adult diagnosis in 2000 (McFarlane & Rajani, 2007). Key issues for the 22 adults diagnosed through this clinic between 2001 and 2004 were employment, physical health, mental health, justice issues, independent living, finances and addictions. The relevance of diagnosis to these adults is that supports can be delivered through individual planning in order to assist them in negotiating these challenges while living in their communities.

The establishment of diagnostic clinics for adults will assist them in their multiple roles as members of the communities where they live. Diagnosis through a comprehensive assessment process will help adults know more about their strengths and limitations. This information will also support them in mediating the challenges posed by the diagnosis as well as the development of support systems around daily living and community participation. There are good examples with FASSY (YK), Sheway (BC) and Breaking the Cycle (ON).

• 1.1 Project Scope
• 1.2 Adult Diagnosis in Context
• 1.3 Need for Adult Assessment and Diagnosis