Chapter 3: Assessment and diagnosis of FASD among adults: a national and international systematic review – Adult diagnosis and assessment

3.0 Literature review: adult diagnosis and assessment

Increased attention in the literature is emerging in relation to adults and FASD. As the original cohort of infants and children diagnosed in the 1970s and 1980s has reached adulthood, many of them are now being re-examined to gain a better understanding of what FASD looks like in adults compared with children (e.g. Barr et al., 2006; Lemoine, 2003; Streissguth, Barr, Kogan & Bookstein, 1997). A goal of this literature review was to identify evidence- and practice-based literature that could assist health care and other professionals to recognize the disorders associated with FASD in adults, so timely assessment, diagnosis and service planning could happen. This goal is in keeping with the adult face of FASD presented in the literature over the past decade or so.

One of the clinical practice issues driving the diagnosis of adults is related to child welfare interventions. The Lakeland Centre for FASD, for example, found that 60% of its adult clients who had been diagnosed with some form of FASD had children, and many of those children (40%) were living in the care of others (McFarlane, 2008). The high incidence of children in care was also mentioned by Dubovsky (2008) when he referred to an unspecified study where

“over 80% of children and adolescents with an FASD were in foster or adoptive homes”

(Slide #22), and by Hutson (2006), who cited a report from the Child Welfare League of Canada in 2003 that estimates that “50% of children in care in Alberta have FAS” (p. 2). So, when children are suspected to have or diagnosed with an FASD, the concern for the family rises because the reality is that parents themselves may have an FASD. In such cases, the availability of a diagnostic clinic, which is accessible and prepared to do adult assessments, would be very helpful in order to assess/diagnose “over 80% of children and adolescents with an FASD were in foster or adoptive homes” these adults in a consistent and coherent fashion. Such clinics could be instrumental in establishing support plans that recognize the unique needs of such individuals and families. When authorities, such as child protection practitioners, have become engaged in the lives of children and families where concerns of substance misuse is an issue and referral for adults is required, the assessment is now usually done on a fee-for-service basis.

The diagnostic process set out in the Canadian guidelines provides the overarching context for diagnosis of FAS and its related disorders in Canada (Chudley et al., 2005). These guidelines seek to harmonize those created by the U.S. Institute for Medicine (1996, as cited in Hoyme et al., 2005) and the 4-Digit Diagnostic Code (Astley & Clarren, 2004). The use of these diagnostic tools requires testing in multiple domains by specialized professionals. The first step in this process is potential case-identification and referral to a specialized assessment team.

3.1 Screening and Referral Processes and Procedures

Identification and referral are the first steps in the diagnostic process. Referral should be initiated at the point when a professional begins to suspect an alcohol-related disorder may be involved. This most often occurs when adults present with problems whose symptoms may be representative of FAS/FASD. The National Task Force on FAS/FAE et al. (2004) in its document, Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis, suggested that the referral process demands a “thorough knowledge of the physical and neurodevelopmental domains affected in individuals with FAS, as well as characteristics that could trigger a referral” (see Bertrand, Floyd & Weber, 2005, p. 7). The Centers for Disease Control and Prevention’s (2005) guidelines contain a section on identifying and referring individuals with FAS, as do the Canadian guidelines (Chudley et al., 2005). These guidelines were developed with the idea that when in doubt, it was preferable to refer for full evaluation by a multidisciplinary team with experience in evaluating fetal alcohol exposure and its associated problems. However, in many instances, a multidisciplinary team is not available and the primary care physician may be called upon to complete the diagnosis. Referral to a multidisciplinary team (e.g. dysmorphologist, clinical geneticist, mental health professional and social worker) is preferable for two reasons. First, it is often necessary for diagnosis because the growth, central nervous system (CNS) deficits and facial features of FASD can overlap other syndromes and disorders, making a differential diagnosis difficult for those less trained to assess these characteristics. Also, even for those who clearly meet diagnostic criteria, referral to a specialized team allows for a complete assessment and the development of an individualized management plan. This plan is essential if appropriate services and treatment are to be provided.

For children and adolescents, the most likely people identifying potential FASD in an individual are medical, educational and social service professionals (Centers for Disease Control and Prevention, 2005). For adults, primary care physicians, mental health professionals, family members, those working in policing or justice fields, or those in their support network, and the person themselves are the most likely to be involved in identifying those who should be referred for a full diagnosis. The Lakeland Centre for FASD (McFarlane, 2005, 2008; McFarlane & Rajani, 2007), located in Cold Lake, Alberta, adds several other referral sources to this list based on its clinical experience: children’s services, human resources and employment, and programs for persons with developmental disabilities. Anecdotal evidence from one diagnostic clinic speaks to the effectiveness of screening; of the 41 adults referred to the program, all of them received an FASD diagnosis once assessed by the multidisciplinary team (personal communication, Audrey McFarlane, Executive Director, Lakeland Centre for FASD, October 26, 2008). In an FASD clinical capacity study, Clarren and Lutke (2008) investigated 15 clinical programs in Western and Northern Canada (i.e. these researchers contacted 27 programs but only 15 responded). They reported that assuming that all 1,140 patients were requesting assessment for FASD “then two thirds were found to have some form of the disorder and a third of those had the clinically obvious forms – FAS or pFAS” (p. e225). They noted, however, that some of the patients referred to the clinic may have been referred for reasons other than suspected FASD, which would make the diagnosis rate even higher.

The major role of primary care, mental health or social service providers in the screening of adults with potential FASD diagnosis is in “case finding” or identification of previously undiagnosed adults (Applebaum, 1995), subsequently followed by referral to other health care team members. The referring person plays an important role leading up to diagnosis, by helping them to gather and complete documents that will be needed in the formal assessment process. Such documents may include a history of in utero alcohol exposure, medical reports from childhood, results of previous psychosocial assessments, etc.

For many, the first step in the process to a diagnosis is to be identified as belonging to a high-risk group where a family history of substance misuse may raise concerns. The second step is usually some form of screening. For FASD, neonatal maternal alcohol consumption would place someone in such a high-risk group. The Centers for Disease Control and Prevention (2005), in guidelines prepared for the National Center on Birth Defects and Developmental Disabilities in the United States, suggested the following constitute criteria for referring children for a full FASD assessment:

  1. In utero alcohol exposure is known
  2. In utero alcohol exposure not known but social and family history indicates:
    1. Parent or caregiver reports that a child has or might have FAS
    2. Premature maternal death related to alcohol use
    3. Focus on children living with an alcoholic parent
    4. Current or previous abuse or neglect
    5. Current or previous involvement with child PSAs
    6. History of transient caregiving situations
    7. Been in foster or adoptive care (including kinship care)
  3. In utero alcohol exposure not known but physical characteristics are present in some combination:
    1. facial features
    2. growth deficits
    3. CNS abnormalities

In adults, the physical criteria, which are the main focus of the Center for Disease Control and Prevention guide, may be absent or significantly changed from those of childhood. Practice wisdom coming from the experiences of the Lakeland Centre, according to McFarlane (2008), indicated two important implications when screening for and/or assessing for FASD in adults based on the 41 cases they have examined to date. The first implication is that “brain dysfunction is present when facial features or growth may not be” (slide #17). The second is that “if adults do have facial features they are still prominent and not faded as previously thought” (slide #17). This is the experience at one clinic engaged in adult diagnosis and is, therefore, not generalizable to all populations. This highlights the need for more research to investigate the differences in physical characteristics that may or may not be present in the adult with different FASD diagnoses.

Nine screening tools were mentioned in the literature that may be helpful in deciding to refer an adult for full assessment. Many of these screening instruments were developed for the early identification of children with FASD, but could be adapted to suit the particular needs of an adult population. Several documents provided a detailed description of the screening tools, while others made available only sketchy overviews of the instruments involved.

Burd, Cox, Fjelstad and McCulloch (2000) suggested that the most useful tool for screening in clinical settings was the 4-Digit Diagnostic Code (Astley & Clarren, 1996), although this has been used mostly in non-clinical settings for diagnosis rather than screening. From this well-used diagnostic tool, Burd et al. (1999) developed a rapid (less than 15 minutes), evidence-based screening instrument form that professionals or paraprofessionals could use to screen for FASD (see Appendix A). This instrument presented the professional with 30 characteristics scored under six primarily physical domains: head and face; neck and back; arms and hands; chest; skin; and development. Scoring is done in a yes/no format, with a weighted score assigned to each item. For example, a yes response to mild to moderate mental retardation yields an item score of 10, while hearing problems would produce a score of 1. Burd and the other researchers in this group screened 1,013 school-aged children and found the instrument to be sensitive (detected 100% of true positives), and specific (correctly excluded people not having FAS 94% of the time). This screening tool would need to be tested with the appropriate populations to see if its sensitivity and specificity properties were upheld with adults, especially since it relies primarily on physical characteristics for screening.

Goh and colleagues (2008) critically reviewed and evaluated the published literature and practice methods for screening suspected cases of FASD according to their sensitivity, specificity, and positive or negative predictive value. They reviewed seven tools suitable for screening children and adolescents:

  1. meconium screening (fatty acid ethyl esters in neonatal meconium);
  2. youth-justice screening tool (Asante Centre probation officer screening and referral form);
  3. modified Child Behaviour Checklist;
  4. facial dysmorphology;
  5. maternal history of substance abuse;
  6. The Clinic for Alcohol and Drug Exposed Children intake procedure; and
  7. the Medicine Wheel. Based on assessments of ease of use, accessibility, cost, expertise, cultural appropriateness, factors to facilitate implementation and barriers to implementation, five of the seven screening tools were assessed as facilitating diagnosis of FASD in different populations. The chosen screening tools were the meconium screening; the Asante Centre probation officer screening and referral form; the modified Child Behaviour Checklist; maternal history of substance abuse; and the Medicine Wheel. The meconium screening and the Child Behavior Checklist are not appropriate for use in adult screening, but the other three screening tools selected – although meant for screening with children and youth – may prove useful in screening adults.

Grafman and Litvan (1999) presented a series of screening questions that can be used in the evaluation of frontal lobe (cognitive) functioning (see Appendix B). These include functional areas of impairment such as attention-concentration, predictive planning, adaptive planning, short-term planning, reasoning, thematic understanding, social skills, inhibition and motivation with their potential prefrontal cortical area of involvement, and the neurobehavioural probe to assess specific behavioural manifestations. These are important areas of functioning that may indicate FASD impairment in adults.

Several attempts have been made to develop screening tools aimed at rapidly screening adolescents and adults within the justice system who do not have an FASD diagnosis. Fast, Conry and Loock (1999) identified that within the population of the youth justice system they sampled, 1% were diagnosed with FAS and 23% were diagnosed with alcohol-related diagnosis. This made screening in the youth justice system a necessity, and prompted the need for an FAS screening tool in order to identify those at risk of FAS or a related FASD diagnosis. Although fast, Conry and Loock developed a screening form, enough detail about its content was not provided to provide a fuller description for this review. Another such example of a screening tool used in the justice system was provided by Boland, Chudley and Grant in 2002. They briefly described developing a screening instrument that was to be used in a study with adult offenders based on an empirically derived checklist of known characteristics of those with FAS, together with historical data, to determine who would be at high risk of having an FASD. However, no follow-up information was located to indicate the effectiveness of this instrument or any details about the items on the checklist.

A third screening instrument, the Fetal Alcohol Behavior Scale (Streissguth, Bookstein, Barr, Press & Sampson, 1998) has been used successfully to identify youth and adults at high risk for FASD-related disorders in several correctional facilities. It is a 36-item scale using a yes/no answer format that is completed by someone who knows the behaviours of the person being assessed well. The scoring is based on a simple calculation of the yes responses to items related to personal conduct, emotions, communication and speech, social skills and interactions, motor skills and activities, academic or work performance, and physical or physiological functioning. A series of studies was used to test the utility of the behaviour scale:

  1. a Derivation Study, which focused on reducing a lengthy checklist into the 36 items of the new scale;
  2. a Detection Study, which was used with 134 patients under the age of 35 years in a prison facility to detect those with FAS or FAE (fetal alcohol effects);
  3. the Normative Study, which determined the sensitivity of the scale within a non-clinical sample of 186 adults waiting at a medical clinic who had children of any age, and established a high (0.89 Cronbach’s coefficient) item-to-scale reliability;
  4. the Test-Retest Reliability Study in which 41 patients from previous studies who had completed forms from two different time periods were evaluated by the same person; and
  5. the Prediction Study, which used information about 70 adults with FAS/FAE diagnosis and had information from a life history interview with a caretaker, spouse or informant. One of the benefits of the Fetal Alcohol Behavior Scale (FABS) is that it appears not to be age, sex and/or race specific. All the information to date on the FABS has been gathered in research settings and information as to its performance in clinical and screening contexts would solidify its usefulness.

The OBD Triage Institute, which began in 1998 in Alberta, has developed a pre-screening tool that has been used in Alberta and many other provinces in Canada in relation to both children and adults (Lawyrk, 2008). The Triage Assessment model takes into consideration the concern that biological parents of children referred for assessment may also be alcohol affected. Both children and adults have been referred to the Institute, which has worked extensively with child welfare, youth justice and the adult corrections system. The instrument is reported to be sensitive to both children and adults, and post-screening appropriate referrals are made to diagnostic clinics for FASD. It appears that this screening tool is strongly based on a reiteration of the 4-Digit Diagnostic Code. Individuals screened out are referred to other appropriate resources. The four primary criteria, which are grounded in the work of previous research (Streissguth, 1997), screens for:

  1. confirmation of maternal ingestion of alcohol (drugs) during pregnancy and/or evaluation of statistical inference indicators based on established research findings
  2. physical anomalies, including sentinel craniofacial features, growth delay, dysmorphic physical findings and medical issues found more commonly in alcohol-and/or drug-affected individuals
  3. neurodevelopmental deficits and/or skewed learning patterns
  4. persistent behavioural issues medically documented to occur more frequently in alcohol-affected children, youth and adult

How might a screening tool intended for use with children or adolescents be adapted for those who are already adults? Streissguth et al. in 1991 examined FAS in adolescents and adults and found some important differences when compared with diagnosis in children. Some of the physical characteristics described by Streissguth and colleagues could be used to adapt previous screening tools for an adult population. Also, the inclusion of more cognitive, neuropsychological and learning disabilities related to findings about FASD effects in late childhood (Streissguth, Barr, Kogan & Bookstein, 1997) could strengthen the screening for FAS and its related disorders in adults.

Screening for referral to a diagnostic clinic is an important function that would benefit from a consistent approach. Fast and Conry (2004) were clear that

“screening tools for FASD need to be developed and validated”

(p. 162). The purpose of such screening tools would be to identify individuals at high risk of having FAS or one of its related disorders. However, such tools should not be mistaken for or be misused to diagnose FASD. Diagnosis can be made once referral to a professional with specialized training or to a team of professionals that can administer the necessary medical and psychological assessments has taken place. There are lists of FASD diagnostic clinics and resources available for many areas (e.g. the Alberta FASD Diagnostic Clinics list put out by the Psychologists’ Association of Alberta, and the online document Creating a Foundation for FASD Diagnostic Capacity by Guilfoyle (2006) that provides a number of assessment resources in Ontario). Also, there are websites that provide information about adult diagnosis resources such as the CanNorthwest FASD Project’s project inventory, which has a description of resources and research taking place in British Columbia and Yukon.

3.2 The Diagnostic Clinic/Program

The U.S. Institute of Medicine (1996, as cited in Hoyme et al., 2005) suggested that while trained clinicians (e.g. psychologists) may diagnose the neurobehavioural aspects of FAS, dysmorphologists who are trained to assess the medical abnormalities are essential for a complete medical diagnosis. This division is reflected in much of the FASD literature where medical researchers explore the structural abnormalities and psychologists focus their research on the neurological damage incurred through in utero alcohol exposure, and the subsequent cognitive and behavioural impairments that endure (Pei & Rinaldi, 2004). The practicality related to the need to have both medical and psychological expertise in the diagnosis of FASD often presents challenges, as regular medical clinics are usually not set up for this diversity in expertise. Thus, across Canada and internationally, specialized clinics or programs have been set up to facilitate the diagnoses of fetal alcohol-exposed children, adolescents and adults resulting in FASD.

“Because there is no definitive test for FASD, researchers and clinicians diagnose FASD symptomatically and then look back to these abnormalities to better refine diagnosis”

(Pei & Rinaldi, 2004, p. 126). A multidisciplinary team for assessment is usually called upon to participate in the diagnostic process, as the symptomology for FASD is varied and some aspects change across the lifespan of the person affected (Chudley, Kilgour, Cranston & Edwards, 2007). These specialized teams may be housed in a hospital or community health clinic. Virtual and mobile teams can be created in regions where distance is an obstacle to diagnosing children, adolescents and adults with FASD (Chudley, Kilgour, Cranston & Edwards, 2007; Guilfoyle, 2006; McFarlane & Rajani, 2007). Team members usually include at minimum a physician with expertise in birth defects and different anomalies such as facial dysmorphology and other physical health issues related to FASD. A psychologist is included as part of the team, as well as a nurse clinician, social worker, occupational therapist, educators and a speech language pathologist, and may involve additional members such as family advocates if required (Boland, Chudley & Grant, 2002; Chudley et al., 2005). Diagnostic teams vary in their membership, dependent on resources available in different communities. Some resources are available to guide the establishment and team development required for such a diverse and highly trained team (Dewane, Scott & Brems, 2005). Appendix C provides a description of team member roles from the Vancouver Island Health Authority’s pilot project diagnostic clinic, which may be typical of such multidisciplinary teams.

A recently published research article by Peadon, Fremantle, Bower and Elliott (2008) surveyed 34 FASD diagnostic clinics in North America, South America, Africa and Europe that conducted FASD assessments for children. While 85% of completed questionnaires came from North American clinics, the remaining 15% from South America, South Africa, Italy and the United Kingdom remind us that FASD is truly an international phenomenon. Although the focus of this study was on child diagnosis, their explorations into the diagnostic process, the models for service used, and the comparison of clinical practice as recommended by published guidelines parallel the investigations found in this section of the literature review on adult diagnostic services in Canada.

Peadon, Fremantle, Bower and Elliott (2008) reported the following results. As recommended in diagnostic guidelines, assessments were completed by a multidisciplinary team in 97% of the clinics surveyed. In 94% of clinics, some members have specific training in the area of children exposed to alcohol in utero. Neurobehavioural assessments were part of the diagnostic process in 94% of the cases reported. Only 24% of the clinics had no referral criteria specified. Approximately 15% of the clinics surveyed reported that they provided diagnostic services to individuals of any age; an additional 15% were exclusively for children; and the remainder served infants, children, adolescents and a few young adults. Funding sources were queried, and it was reported that 26% of the clinics charged some form of fee-for-service. One such clinic was located in Canada and the remaining eight were in the United States. The clinics in South America, South Africa, Italy and the United Kingdom received funding from research grants and/or federal funding. These were also sources of funding used in the Canadian and American clinics. A full study of Canadian clinics and teams providing assessments to adults would add greatly to our understanding of what is already taking place in this area and could form the beginnings of a best practice model that focuses on a consistent approach to assessment and diagnosis.

3.3 Assessment Process and Procedures

The next step in the diagnostic process is the intake procedures at the FASD clinic or program (see Appendix D for a pre-assessment checklist). Dewane, Scott & Brems (2005) explained that this may include an assessment of eligibility for diagnostic services by one member of the team (usually the team coordinator) based on the documents filed and the criteria determined by the team. Some potential eligibility criteria may include age requirements, confirmation of fetal alcohol exposure, severity of client symptomology, reason for referral, level of need, current level of support received through community services, or usefulness of diagnosis.

Several resources described a clinic-based model where the individual is scheduled for a one-day clinic, during which all assessments are conducted by respective practitioners and a diagnosis is derived by the end of the clinic day (Dewane, Scott & Brems, 2005; McFarlane, 2008). Some psychological testing may require up to a half-day longer so the assessment is spread over a two-day period. The clinic concludes all assessments, interviews, collation of information, diagnostic determination, recommendations and report writing on clinic day (McFarlane, 2008). The diagnosis and recommendations are usually presented during a meeting with the client and members of his or her support network. At this meeting, the team usually introduces the diagnostic code and explains the results. Team members have an opportunity to share their observations and recommendations. Questions from the individual and family or friends who are supporting the person can be addressed at this time, as well as the scheduling of any follow-up sessions and/or referrals to other community resources.

The following are examples of Canadian diagnostic clinics assessing adults for FASD.

A.  Adult Assessment and Diagnostic Project

The Adult Assessment and Diagnostic Project is located in Whitehorse, Yukon. It is a pilot project that began in March 2005 and will continue until the end of the pilot project period in March 2009. The project provides assessment/diagnosis to adults in Yukon with priority given to those at risk of prison and those attempting to parent. Also included in the service is the development and implementation of a plan of action based on the results of the assessments and recommendations of the team. To date, 28 adults have been assessed and 26 have been diagnosed with an FASD. One is undergoing additional medical tests.

B. The Asante Centre for Fetal Alcohol Syndrome

The Asante Centre for Fetal Alcohol Syndrome in British Columbia outlines the following adult assessment process in its material:

  1. A referral to the clinic is made either as a self-referral (for which the Centre has a family nurse clinician and family support worker who will assist the person in gathering the information needed for the assessment) or physician referral. The documentation that is needed includes birth records, medical records, school records, past assessments, and confirmation of alcohol use by mother.

  2. As stated in the material from the Asante Centre, the actual assessment, which takes one and a half to two days, has four components:

    1. medical assessment where a medical doctor measures eyes and other facial features, assesses fine and gross motor skills, reflexes, height, weight and hearing
    2. psychological assessment involves tests of memory, problem-solving skills, academic abilities and cognitive abilities
    3. speech and language assessment to examine communication skills and patterns
    4. interviews with the person being assessed plus other people who act in supporting roles to learn about their needs.

C.   The Lakeland FASD Centre

The Lakeland FASD Centre located in Cold Lake, Alberta, which covers a vast rural area, began adult diagnosis in 2000. Its diagnostic team consists of a physician, neuropsychologist, mental health therapist, legal representative, persons with developmental disabilities (PDD) coordinator, Aboriginal liaison worker, addictions counsellor and team coordinator. Its assessment model includes a pre-clinic phase where the team coordinator completes the initial intake form and uses this information to determine eligibility for a full assessment. The basic criteria needed to proceed are confirmed history of fetal alcohol exposure and residency in the catchment area covered by the clinic.

The fee is currently $1,000 to offset the costs of the neuropsychologist and physician. Additional costs include physician compensation for costs associated with being away from the office and billing for one patient through the diagnostic clinic. The clinic concludes all assessments, interviews, collation of information, diagnostic determination, recommendations and report writing on clinic day. Concerns exist about adults not showing up for scheduled clinic day when the team is assembled and ready to work.

Figure 2 : 41 adults from 18 to 45 years seen by the clinic

Figure2 : 41 adults from 18 to 45 years seen by the clinic

The clinic has seen 41 adults to date ranging in age from 18 to 45 years:18–21 (42%), 22–25 (37%) and 26–45 (21%). There is an almost even split between females (55%) and males (45%) seen at the clinic. All of these adults received a diagnosis of one of the conditions along the spectrum of FASD. Most adults assessed at the clinic received an ARND diagnosis, had significant health issues (95%) and had an IQ over 70 (71%). Most of the adults seen at the clinic have children (60%) but 40% of these parents have children in the care of others.

Key issues for 22 adults diagnosed in this clinic between 2001 and 2004 were employment, physical health, mental health, justice issues, independent living, finances and addictions. The relevance of diagnosis is that adults who are diagnosed can be provided supports through individual planning in order to assist in negotiating these challenges in their communities.

McFarlane and Rajani (2007) provided an analysis of critical factors and challenges to the success of FASD diagnostic clinics in rural areas specifically but to all diagnostic clinics generally. Critical factors included team selection and coordination as well as the development and management of the team. A commitment to client/family-focused services and establishing cultural connections within the community were also identified as important features of a diagnostic clinic model.

3.4 Diagnostic Criteria and Decision Making

The clinical assessments are the most critical elements of the diagnostic process. The process is complex and “requires consideration of multiple professional domains” (Fryer, 2008, p. 18). The following section will present primarily evidence-based literature describing the research support for diagnostic considerations when assessing adults and tools/techniques that have been used in the diagnostic process. Detailed diagnostic protocols for FAS and related disorders are available for children and adolescents but are only in the infancy stage for adults (Astley & Clarren, 1999, 2000; Burd & Martsolf, 1989).

FASD is a series of multifaceted conditions – a wide range of characteristics, which are variable and age dependent, but which need to be considered when diagnosing FAS and its related disorders (Burd, Cotsonas-Hassler, Martsolf & Kerbeshian, 2003; Streissguth et al., 1991). Pei and Rinaldi (2004) reported that the Institute of Medicine’s report in 1996 addressed the previous lack of diagnostic clarity by identifying a range of birth defects and disabilities caused by fetal alcohol exposure. Each of these FASD categories was based on the traditional four diagnostic criteria (i.e. fetal alcohol exposure; growth deficits; neurodevelopmental and behavioural characteristics; and distinctive facial features) but with increased detail and specificity. Diagnoses under the FASD umbrella include:

  1. Fetal Alcohol Syndrome (FAS), which refers to a person who has slowed growth, certain facial features and brain abnormalities;
  2. Partial FAS (pFAS), which refers to individuals who have some but not all of the FAS characteristics – this was previously referred to as fetal alcohol effects (FAE); and
  3. Alcohol-related Neuro-developmental Disorder (ARND), which encompasses a range of CNS dysfunctions associated with in utero exposure to alcohol. The other major category included under the FASD spectrum was Alcohol-related Birth Defects (ARBD), which was seldom mentioned in the evidence-based literature reviewed on FASD diagnosis. A breakdown by the four diagnostic types presented above was reported by a Finnish study (Autti-Ramo et al., 2006) of 77 individuals aged 8 to 20 years who were assessed based on physical characteristics; 95% were diagnosed with FASD with the following breakdown across the spectrum of diagnoses:

Figure 3

Figure 3

These four diagnostic categories were adopted by the Canadian guidelines for FASD (Chudley et al., 2005). (FAS 53%, ARBD 0%, ARND 12%, pFAS 30%)

Peadon and colleagues (2008) suggested that

“the diagnosis of FASD is complicated by the debate about the most appropriate diagnostic criteria”

and the publication of multiple guidelines available in the past 10 years or so (p. 18). As a result, researchers and clinicians frequently use more than one set of diagnostic criteria or make their own adaptations to published guidelines according to Peadon’s survey results (i.e. almost one-third of the clinics surveyed reported this finding). A consistent approach to diagnosis, including best practice evidence for assessment tools and techniques with adults, would greatly advance this field, and make for more readily accessible comparisons among research and practice findings.

Leading practice on diagnosis of FASD has emerged in North America from the standards set by the U.S. Institute of Medicine (Stratton, Howe & Battaglia, 1996) and the 4-Digit Diagnostic Code (Astley & Clarren, 1996). Diagnosis relies heavily on classification systems, which provide a portrait of the characteristics that constitute a particular condition or disease. Astley and Clarren, using the Washington State FAS Diagnostic and Prevention Network statistics, developed a new, comprehensive, reproducible method for diagnosing the full spectrum of outcomes of patients with fetal alcohol exposure. This new diagnostic method, called the 4-Digit Diagnostic Code, provided more accurate and reproducible diagnoses using quantitative, objective measurement scales and specific case definitions. The four digits in the code reflect the magnitude of expression of the four key diagnostic features of FAS:

  1. growth deficiency,
  2. the FAS facial features,
  3. central nervous system (CNS) damage/dysfunction, and 4 fetal alcohol exposure. The magnitude of expression of each feature is ranked independently on a 4-point Likert scale (i.e. 1 refers to the complete absence of the FAS feature and
  4. to a strong “classic” presence). An individual’s 4-Digit Diagnostic Code is derived after a thorough evaluation by an interdisciplinary team of professionals. This diagnostic tool has been used in numerous research and clinical cases, and has been adopted as the preferred assessment tool in the Canadian guidelines for diagnosis of FASD. Astley (2003) indicated that “over 50 multidisciplinary clinical teams across the United States and Canada are now using the 4-Digit Diagnostic Code in a wide array of clinical/social service settings” (p. 3). Chudley, Kilgour, Cranston and Edwards (2007) noted that “modifications of the 4-Digit Code are being used in many clinics throughout North America for use in the diagnosis of children and adults” (p. 264).

However, when assessing adults with potential FASD, adjustments are needed to be made under our current understanding and assessments (Chudley, Kilgour, Cranston & Edwards, 2007). Burd, Cotsonas-Hassler, Martsolf and Kerbeshian (2003) developed an instrument for assessing the severity of FAS and its related disorders (pFAS and ARND) in children, adolescents and adults (age range 1 month to 56 years). This preliminary instrument (see Appendix E) measures areas such as growth, facial features, comorbid neuropsychiatric conditions, sleep, services used and Vineland scores (i.e. Vineland Adaptive Behavior Scales), and is based on empirical evidence that comorbid mental disorders are strongly associated with diagnoses of FAS or pFAS. These authors urge the research and practice communities to lessen their reliance on dysmorphia (facial features and growth impairment such as short palpebral fissure or absent philtrum) as the essential diagnostic feature of the spectrum of FAS and pFAS in favour of “the primary problem from prenatal alcohol exposure is brain damage or dysfunction manifesting as common disorders of development and as mental illness” (p. 704).

A.  Evaluating Dysmorphology

There are few published reports on dysmorphology in FAS adults. One such assessment was done by Streissguth et al. (1991) where 91 adolescents and adults with a FAS diagnosis were found to have less distinctive facial features than they did as children. However, three features often remained – eye anomalies, short palpebral fissures, and abnormalities of the philtrum and lips. These features remain useful in distinguishing adults with FAS who were not diagnosed as children. Other observations of physical changes were noted by Lemoine (2003) in his 25-year follow-up examination of 105 adults who had been assessed and diagnosed as children. He found that other facial anomalies had changed (e.g. nose and chin) while intellectual deficits and maladaptive behaviours persisted.

The traditional physical examination for dysmorphology would include growth measurements for height, weight and head circumference (Streissguth et al., 1991). FAS shifts the normal distribution of height and head circumference about two standard deviations down from the population mean for adolescents and adults. However, Streissguth et al. (1991) found that 28% of their sample of adolescents and adults had normal head sizes, and 16% were within the average height range. FAS has been shown to have less consistent effects on weight, even though being underweight is very typical in young children with this disorder. Among the adolescents and adults in this 1991 study, 25% of those with FAS diagnosis and 50% of those with FAE (now known as pFAS) were not underweight. There were no gender differences on growth parameters noted, and no significant delay in the onset of puberty.

The other classical examination for characteristic facial features (i.e. short palpebral fissures, mid-face hypoplasia, smooth and/or long philtrum and thin upper lip) provides specificity for FAS but not other diagnoses within the spectrum (Streissguth et al., 1991). These facial features have been found to be among the most variable of the characteristics across FAS development (Burd, Cotsonas-Hassler, Martsolf & Kerbeshian, 2003). Streissguth et al. (1991) noted that facial characteristics became less distinctive over time, although these authors suggested that in many adolescent and adult cases “eye anomalies, short palperbaral fissures, and abnormalities of the philtrum and lips remain useful diagnostic feature” (p. 1964). However, there was continued growth in four facial areas mentioned in this study:

  1. nose in two dimensions – height of the nasal bridge and nasal length from root to tip;
  2. growth of the midfacial region correcting the earlier midfacial hypoplasia;
  3. improved soft-tissue modelling of the philtrum and upper lip; and
  4. continued growth of the chin.

One of the challenges for clinicians, who are used to child diagnosis of FAS, is that most of those affected with FASD (i.e. with pFAS, ARND or ARBD diagnoses) may have no growth impairment and few, if any, dysmorphic features classic to FAS children (Chudley, Kilgour, Cranston & Edwards, 2007). Because of this, many adults who need a diagnosis have been missed or are perhaps misdiagnosed. Therefore, they enter adulthood without a proper diagnosis. Burd, Cotsonas-Hassler, Martsolf and Kerbeshian (2003) suggested that, given this situation, emphasis in evaluating adults should be placed on neurodevelopmental aspects rather than dysmorphia (i.e. facial features and growth impairment).

B. Evaluating Brain and Neurological Abnormalities

The neuroanatomical effects of in utero alcohol exposure are well documented in the research literature. A series of research studies has investigated the CNS anomalies associated with FAS and its related disorders to better understand the brain functioning. Anatomical abnormalities in areas such as the corpus collosum, cortices and basal ganglia have been linked to developmental and behavioural deficits such as intelligence, language development, visual-spatial functioning and attention/memory problems (Bookstein, Streissguth, Connor & Sampson, 2006; Mattson & Riley, 1997). Developments in magnetic resonance imaging (MRI) and functional magnetic resonance imaging (fMRI) technologies have made the mapping of these abnormalities in children, adolescents and adults more accurate and readily accessible (Swayze et al., 1997). For example, Malisza et al. (2005) evaluated the spatial working memory function of both children and adults with FASD using the fMRI technology. These researchers found that adults with FASD showed increased functional activity in the inferior and middle frontal cortex compared with the activity in age- and sex-matched controls. Sowell et al. (2002) found that brain growth continues to be adversely affected well into adulthood. The regions most affected by fetal alcohol exposure were frontal and inferior parietal, and may account for some of the behavioural deficits characterized by those affected by FASD. The maintenance of structural brain changes into adulthood led Bookheimer and Sowell (2005) to investigate the effectiveness of a functional (i.e. in assessing brain activation during working memory tasks) and structural MRI in adults with FASD. A challenge faced with fMRI results is that not enough data are available with control subjects to make a clear assessment of what level or magnitude of activation of specific brain functions is indicative of FASD impairment.

Bookstein, Streissguth, Sampson, Connor and Barr, in a 2002 published study, identified 35 distinguishing landmarks in the brains of 90 adults diagnosed with FAS when compared with those of non-FAS diagnosed controls using MRI imaging techniques. This same group of researchers published another study where they examined neuroanatomical features (size and shape of cerebellum; subcortical landmark point configurations, with the size and shape of the corpus callosum) associated with executive function deficits in a sample of 180 adolescents and adults (120 with existing FASD diagnosis and matched 60 controls) where damage was detected using MRI brain imaging (Bookstein, Streissguth, Connor & Sampson, 2006).

Using a related technology, the Fagerlund et al. (2006) study examined the brains of 10 adolescents and young adults diagnosed with FASD using magnetic resonance spectroscopy (MRS), and suggested that exposure to alcohol in utero appears to permanently alter brain metabolism (neurochemical alterations) in multiple areas of the brain (e.g. parietal and frontal cortices, corpus callosum). These findings provide support for the executive functioning deficits found by Kodituwakku, Kalberg and May (2001) and Mattson, Schoenfeld and Riley (2001), who found that individuals with FASD experienced difficulties with problem solving, and planning and flexibility in terms of thought processes.

Riley, McGee and Sowell (2004) summarized a decade of using brain imaging techniques to assess brain functioning with children and adults diagnosed with FASD. They concluded that microcephaly and structural abnormalities affecting the cerebellum, corpus collosum and basal ganglia were common in alcohol-exposed individuals. Most recently, Sowell et al. (2008) have used MRIs to investigate the patterns of brain dysmorphology in children and young adults. In this research, they are finding new associations between cortical thickness in certain areas of the brain in individuals with FASD when compared with controls. In the future, diagnostic testing may use brain imaging techniques to further our understanding of the mechanisms involved in the behavioural deficits long acknowledged in people with FASD.

The exploration of neuroanatomical abnormalities has produced consensus in the research community about the enduring effects of in utero alcohol exposure. The consequences of these deficits are reviewed in the next section as adaptive functioning is examined.

C. Evaluating Neurodevelopmental and Neurobehavioural Deficits

“The behavioral and cognitive effects of prenatal alcohol are among the most devastating consequences of such exposure”

(Mattson & Riley, 1997, p. 4). Even so, “many symptoms are non-specific and no neurodevelopmental profile has been developed” reported Malisza et al. (2005, “The behavioral and cognitive effects of prenatal alcohol are among the most devastating consequences of such exposure” p. 1150). These researchers found that adults with FASD showed increased functional activity in the inferior and middle frontal cortex compared with the activity in age- and sex-matched controls.

The range of neurological impairments explored in the research literature includes:

  • microcephaly or history of developmental delay (Streissguth et al., 1991)
  • attention deficits (Kerns, Don, Mateer & Streissguth, 1997; Streissguth et al., 1991)
  • cognitive, learning and/or intellectual deficits (Kerns, Don, Mateer & Streissguth, 1997; Streissguth et al., 1991)
  • seizures (Streissguth et al., 1991)
  • auditory and visual attention (Chan, 1999; Connor, Streissguth, Sampson, Bookstein & Barr, 1999)
  • verbal memory function (Kerns, Don, Mateer & Streissguth, 1997)
  • motor control (Connor, Sampson, Streissguth, Bookstein & Barr, 2006)(Connor, Sampson, Streissguth, Bookstein & Barr, 2006)(Connor, Sampson, Streissguth, Bookstein & Barr, 2006)

Individuals with FASD often have many neurobehavioural problems, which interrelate to cause profound problems with accurately processing information and their relationship with the world around them. Impacting adult functioning are problems with impulse control and discerning cause–effect relationships; problems with the ability to generalize information; problems with understanding concepts and abstract thinking; problems with short-term memory; and problems with processing information, particularly auditory information.

Investigations into the cognitive deficits manifested in adults who have sustained some degree of CNS dysfunction due to in utero exposure to alcohol have focused primarily on IQ and achievement testing in children, where their intellectual abilities generally fall in the below-average intelligence range. A few studies have followed this population into adulthood (Streissguth et al., 1991), and several studies have examined the cognitive deficits of adults with FAS who have IQ scores in the low-average to above-average range (Kerns, Don, Mateer & Streissguth, 1997). The Wechsler Adult Intelligence Scale – Revised or Wechsler Intelligence Scale for Children – Revised was the most common assessment tool used in research studies (e.g. Grant, Huggins, Connor & Streissguth, 2005; Kerns, Don, Mateer & Streissguth, 1997; Streissguth et al., 1991). Research in this area suggests that the implications of these findings may account for the functional difficulties that individuals living with FASD report in school, home and community settings.

Very little consistency in assessment tools and techniques was found in the clinical research literature for assessing academic and adaptive functioning. For example, the Addiction Severity Index (5th ed.), which assesses problem severity in seven domains, including medical, employment, legal, family/social, alcohol and other substance abuse, and psychiatric/emotional was used by Grant, Huggins, Connor and Streissguth (2005), but not in any other research examined. In the same study, Grant and colleagues found that of the 11 women administered the Brief Symptom Inventory (53-item psychiatric symptom checklist), 55% were found to have symptom levels indicative of a psychiatric diagnosis. This finding was consistent with that of Famy, Streissguth and Unis (1998) but they used a different instrument to measure depression. In the follow-up study by Streissguth et al. (1991), the Vineland Adaptive Behavior Scale was used to assess adaptive functioning in people previously diagnosed with FAS. Assessment using this measure of adaptive functioning in the areas of daily living, socialization and communication skills indicated an average level of adaptive functioning at around seven years for the adolescents and adults involved in the study. This testing revealed problematic deficits in “failure to consider consequences of actions, lack of appropriate initiative, unresponsiveness to subtle social cues, and lack of reciprocal friendships” (p. 1965). All participants in this study were assessed to have either a “significant” level of this maladaptive behaviour (62%) or an “intermediate” level of dysfunction (38%). Poor concentration and attention dependency, stubbornness or sullenness, social withdrawal, teasing or bullying, crying or laughing too easily, impulsivity, and periods of high anxiety were among the maladaptive behaviours noted. It is these types of adaptive deficits that are the focus of the next section.

D. Evaluating Secondary Sequelae

The primary deficits associated with FASD are characteristics and behaviours reflected in the brain structures and function of alcohol-exposed individuals (structural anomalies and behavioural and neurocognitive disabilities). Secondary consequences related to these primary conditions are considered those where the individual is not born with but rather develops them over time due to the poor fit between the person and his or her environment (Streissguth, Barr, Kogan & Bookstein, 1997); generally, they fall into the domain of social challenges. These are reflected in the three profiles of typical adults attending the Lakeland Centre for FASD (McFarlane, 2008).

  • Adult Profile 1: Has physical challenges; basic living skills are lacking; needs dependent living situation; has social skills problems; budgeting and employment are issues.
  • Adult Profile 2: Lack actual ability, although they present with an appearance of capability; demonstrate poor judgment; lack internal structure and the inability to advocate for self.
  • Adult Profile 3: Has mental health issues; substance abuse problems; may have sexual issues; demonstrated parenting challenges; may have legal issues or interaction with justice system.

In their review of some of the challenges of diagnosing FASD in adults, Chudley, Kilgour, Cranston and Edwards (2007) reported that the term “secondary disabilities” was introduced in 1996 by Streissguth and colleagues in a longitudinal study of children, adolescents and adults with FAS and FAE (now known as pFAS). Common secondary conditions reported in the literature include:

  • mental health problems (e.g. Barr et al., 2006; Bhatara, Loudenberg & Ellis, 2006; Boland, Chudley & Grant, 2002; Streissguth, Barr, Kogan & Bookstein, 1997; Wright and Associates, 2004)
  • disrupted school experience (e.g. Chudley, Kilgour, Cranston & Edwards, 2007; Clarke, Tough, Hicks & Clarren, 2005; Duquette, Stodel, Fullarton & Hagglund, 2006; Famy, Streissguth & Unis,1998; Lemoine, 2003; Streissguth, Barr, Kogan & Bookstein, 1997)
  • trouble with the law including confinement (Chudley, Kilgour, Cranston & Edwards, 2007; Clarke, Tough, Hicks & Clarren, 2005; Famy, Streissguth & Unis, 1998; Lemoine, 2003)
  • inappropriate sexual behaviour (Chudley, Kilgour, Cranston & Edwards, 2007; Clarke, Tough, Hicks & Clarren, 2005; Famy, Streissguth & Unis, 1998; Lemoine, 2003)
  • substance abuse (Chudley, Kilgour, Cranston & Edwards, 2007; Clarke, Tough, Hicks & Clarren, 2005; Famy, Streissguth & Unis, 1998; Lemoine, 2003)

Exclusive to adults were three additional secondary conditions: dependent living, problems with employment and problems parenting their children. While the above present more as social problems, the following are more reflective of a secondary disability, particularly those diagnoses related to mental health. The Famy, Streissguth and Unis (1998) study of 25 adults with diagnosed FAS or FAE found that 92% met criteria for past or present alcohol or drug dependency; 48% for personality disorders, especially avoidant, dependent or antisocial personality disorders; 44% for depression; 40% for psychotic disorders; and 20% with bipolar and anxiety disorders.

Mental health problems associated with FASD have received a great deal of attention in the literature (e.g. Barr et al., 2006; Bhatara, Loudenberg & Ellis, 2006; Boland, Chudley & Grant, 2002; Streissguth, Barr, Kogan & Bookstein, 1997; Wright and Associates, 2004). Barr et al. (2006), in a 25-year longitudinal study of over 400 alcohol-exposed individuals (compared with those whose mother smoked cigarettes while pregnant), found that alcohol-exposed individuals were more than twice as likely to receive a diagnosis of somataform disorder, substance dependence or abuse disorder, paranoid, passive-aggressive and antisocial personality disorders or traits, and other personality disorders than those in the comparison group. However, there is no causal link between the primary and secondary conditions. Dubovsky (2008) cautioned of the possibility of misdiagnosis as alcohol-related neurodevelopmental disorders can look like many other mental health diagnoses or developmental disabilities. Making a differential diagnosis for FASD rather than any of the myriad other possibilities is primarily reliant on a history of maternal alcohol use during pregnancy.

“A differential diagnosis may include conditions that feature growth retardation and facial anomalies, or those that share some cognitive and behavioral signs”

(Burd, Cotsonas-Hassler, Martsolf & Kerbeshian, 2003, p. 684). Making a “A differential diagnosis may include conditions that feature growth retardation and facial anomalies, or those that share some cognitive and behavioral signs” differential diagnosis for adults with FAS or pFAS can be done through maternal history of alcohol use during pregnancy, physical examination and chromosome analysis and/or specific molecular testing. A thorough neuropsychological testing is needed for adults with FASD to distinguish FAS or pFAS from other causes for cognitive impairments, such as memory and executive functioning.

In contrast to the disruptive educational experience reported by Streissguth et al., 1997 are the findings of Duquette, Stodel, Fullarton and Hagglund (2006). In a qualitative study of eight adolescents/young adults (aged 15 to 20), Duquette and colleagues collected information about the subjects’ diagnosis and individual characteristics, as well as their school experiences, academic progress, and social connectedness through questionnaires and in-depth interviews. They found that parental expectations of completing high school, support and advocacy directly influenced the individual’s persistence in remaining in school.

It has been estimated that 60% of those individuals with a diagnosis of FASD have had difficulties with the law (Boland, Chudley & Grant, 2002; Streissguth, Barr, Kogan & Bookstein, 1997). This strong association may be linked to poor impulse control, hyperactivity, and poor anger and frustration control (BC Partners for Mental Health and Addictions Information, 2003). Fast and Conry (2004), in a review of their previous research regarding youth with FASD and the criminal justice system, reported that there was evidence to suggest young people with FASD are vulnerable to criminal offences (i.e. 23% of the population of youth remanded to a forensic psychiatric unit were diagnosed with FAS or FAE) due to their maladaptive behaviours, such as impulsivity, learning disabilities and poor judgment.

3.5 Challenges in Diagnosing Adults

A number of challenges are faced when assessing FASD in adults (fast & Conry, 2004). First, changes in defining physical characteristics such as distinctive facial features (Spohr, Willms, & Steinhausen, 1993; 1994; 2007). This can be compounded by additional head traumas experienced from violence or accidents to which individuals with FASD may be more susceptible (fast & Conry, 2004) because of their vulnerabilities. A third challenge is the lack of specificity for many of the behaviours associated with FASD and their potential overlap with other common learning and behavioural disorders, such as Attention Deficit Hyperactivity Disorder ADHD), learning disabilities, and conduct disorder (fast & Conry, 2004).

Chudley, Kilgour, Cranston and Edwards (2007) remind us that “only FAS can be diagnosed without information on prenatal alcohol exposure” (p. 263). In individuals with cognitive and behavioural difficulties (but lacking the distinctive facial features and in the absence of fetal alcohol exposure confirmation), an FASD-related diagnosis cannot be easily made. This is particularly troublesome, when considering adult assessment, as facial dysmorphology may disappear as the person ages (Streissguth, Barr, Kogan & Bookstein, 1997; Streissguth et al., 1991) and records or recollections of maternal alcohol use during pregnancy may not be available (Chudley, Kilgour, Cranston & Edwards, 2007; fast & Conry, 2004). Informative birth records, which could provide information about the amount of alcohol intake during pregnancy, may not be available or are non-existent. Reliable models of information gathering could assist in diagnosis.

3.6 Follow-Up to FASD Diagnosis

Through our review of the literature in relation to adults, it is evident that the issue of adult diagnosis is addressed in a limited fashion, that a consistent approach is difficult to identify and the financial infrastructure to support adult diagnosis does not presently exist in the public domain. Private clinics do exist that engage in screening and adult assessment, such as the Asante Centre in British Columbia, Lakeland Centre for FASD, The OBD Triage Institute and Medigene in Alberta, yet some people seeking diagnosis may not have the financial resources to access services on a fee-for-service basis.

Chudley, Kilgour, Cranston and Edwards (2007) highlighted the importance in the diagnostic process of the multidisciplinary team in making recommendations for a management plan following formal diagnosis. They also stressed that team members need to work with community partners and resources to maximize the intervention potential for each affected individual. This may involve engaging with social service agencies, employers and vocational training professionals, parole officers, guardians and members of support networks, and advocacy workers among others. Despite this complex role for team members, there is a limited capacity at present within the professional communities for people to gain the training and experience to make an FASD-related diagnosis (Chudley et al., 2005).

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