The diagnostic process consists of screening and referral, the physical examination and differential diagnosis, the neurobehavioural assessment and treatment and follow-up. Because of the complexity and the range of expression of dysfunction related to prenatal alcohol exposure, a multidisciplinary team is essential for an accurate and comprehensive diagnosis and treatment recommendations. The assessment process begins with recognition of the need for diagnosis and ends with implementation of appropriate recommendations. The multidisciplinary diagnostic team can be geographic, regional or virtual; it can also accept referrals from distant communities and carry out an evaluation using telemedicine.
The core team may vary according to the specific context, but ideally it should consist of the following professionals with appropriate qualifications, training and experience in their particular discipline:
- Coordinator for case management (e.g., nurse, social worker).
- Physician specifically trained in FASD diagnosis.
- Psychologist.
- Occupational therapist.
- Speech-language pathologist.
Additional members may include addiction counsellors, childcare workers, cultural interpreters, mental health workers, parents or caregivers, probation officers, psychiatrists, teachers, vocational counselors, nurses, geneticists or dysmorphologists, neuropsychologists, family therapists.
Comments
Clearly, funding for development, training and maintenance of multidisciplinary diagnostic teams is necessary so that major centres will have the expertise and capacity to serve their communities. To optimize the outcome of the diagnosis, the community and the family must be prepared, ready to participate in, and be in agreement with the diagnostic assessment. The diagnostic process should be sensitive to the family's and the caregiver's needs. In each community, referrals must be evaluated and their level of priority established. The family and guardian must be in agreement on the purpose of diagnosis. They must be made aware of the potential psychosocial consequences of a diagnosis of FASD (e.g., increasing a sense of guilt and anger, especially with the birth mother, or potential stigmatization of the child). The family or guardian will likely need help to move confidently through the diagnostic process. This help might include some preparatory education concerning FASD and linking them with community supports and resources.
Information from multiple sources (e.g., school records, hospital records, social services, previous assessments) should be obtained; this might involve meetings with relevant professionals who know the patient (e.g., teachers, physicians, social workers, psychologists). Other relevant documentation would include birth and pregnancy records, medical and hospital records, adoption records, academic records, achievement tests, developmental assessments, psychological and psychometric assessments, legal reports and documentation of the family history.
The comprehensive assessment by the diagnostic team provides important information about the individual's unique needs and allows interventions to be tailored to his or her strengths and challenges. The post-diagnostic report should state the basis for the diagnosis by including the history of alcohol use, the physical criteria and the psychological data that support it.
Multidisciplinary teams work with community partners and resources to develop and implement management plans to maximize the potential of the affected individual. Following assessment, a report containing recommendations should be made available to caregivers, educators, and biological families, as well as other appropriate individuals who work with the child (i.e., daycare workers, early intervention workers, social workers, etc). The team findings should be discussed with the guardian. Older children who have the cognitive ability should have the opportunity to learn about their diagnosis from the team. The team might also take on the responsibility for facilitating and providing follow-up with the family and community resources regarding outcomes of the recommendations. Ultimately, the diagnostic process will result in concrete management recommendations to improve the lives of the affected individuals, their families and the communities.
Canada is a large country with vast distances between communities, some of which are remote and isolated. Specialists providing consultation to remote areas require specialized training in FASD assessment and need to link with centres that have multidisciplinary teams to assist in the diagnostic process. A number of tools may be useful for distant diagnosis. More frequent use of telemedicine, for example, will allow assessment of children in distant communities.
31Other examples include the use of digital photographs
32,33 and 3-D laser surface scanning
34,35sent electronically to teams in larger centres.
We recognize that there is currently a limited capacity even in some large communities in Canada to provide a multidisciplinary team-based approach to FAS diagnosis. Professionals should make the best use of available resources and expertise to provide an accurate assessment and treatment plan for affected individuals and their families, recognizing the key role of psychology.
1. Screening and referral
Recommendations- All pregnant and post-partum women should be screened for alcohol use with validated screening tools (i.e., T-ACE, TWEAK) by relevant health care providers. Women at risk for heavy alcohol use should receive early brief intervention (i.e., counselling).
- Abstinence should be recommended to all women during pregnancy, as the mother's continued drinking during pregnancy will put the fetus at risk for effects related to prenatal alcohol exposure.
- Referral of individuals for a possible FASD-related diagnosis should be made in the following situations:
- Presence of 3 characteristic facial features (short palpebral fissures, smooth or flattened philtrum, thin vermilion border).
- Evidence of significant prenatal exposure to alcohol at levels known to be associated with physical or developmental effects, or both.
- Presence of 1 or more facial features with growth deficits plus known or probable significant prenatal alcohol exposure.
- Presence of 1 or more facial features with 1 or more central nervous system deficits plus known or probable significant prenatal alcohol exposure.
- Presence of 1 or more facial features with pre- or postnatal growth deficits, or both (at the 10th percentile or below [1.5 standard deviations below the mean]) and 1 or more central nervous system deficits plus known or probable significant prenatal alcohol exposure.
- Individuals with learning or behavioural difficulties, or both, without physical or dysmorphic features and without known or likely prenatal alcohol exposure should be assessed by appropriate professionals or specialty clinics (i.e., developmental pediatrics, clinical genetics, psychiatry, psychology) to identify and treat their problems.
Comments Screening should not be equated with diagnosis. We know that in some places with no diagnostic services, screening tools have been inappropriately used in lieu of a proper diagnosis. One purpose of screening is to identify and refer pregnant women who may be at risk for an alcohol use disorder and who may place their child at risk for FASD. Several alcohol screening tools have been found to be effective in identifying problem drinking in a primary care setting (e.g., TWEAK, T-ACE, CAGE, AUDIT, S-MAST, B-MAST).
2,36,37,38There is moderate evidence
37,38 to support the use of T-ACE and TWEAK to identify women who would benefit from intervention for alcohol use during pregnancy. If the woman cannot abstain, she should receive support and be referred to appropriate counselling and treatment. Stopping drinking at any point during the pregnancy will improve the outcome for the baby. Research is being carried out to develop gender and culturally appropriate instruments for the screening of all women during their child-bearing years.
38The purpose of screening individuals at risk for the effects of prenatal alcohol exposure is to determine whether a pattern of learning and behavioural problems may be related to prenatal alcohol exposure. The screening could be conducted through the education system, the mental health system, the judicial system or social services. The purpose of screening should be to facilitate referral to a diagnostic clinic and highlight the need for referral and support for the birth mother.
The FAS Diagnostic and Prevention Network has had encouraging results in applying the FAS facial photographic screening tool in foster children and school-age children populations.
39 However, in the wide array of FASDs, facial dysmorphology is often absent and, in the final analysis, has little importance compared with the impact of prenatal alcohol exposure on brain function. However, it is important to note that the facial phenotype is a midline defect that is the most sensitive and specific marker for alcohol-related brain damage.
All those suspected of having brain dysfunction should be referred to an appropriate professional or clinic for assessment (i.e., developmental pediatrics, clinical genetics, psychiatry, psychology). Because of the specificity of FASD clinics in addressing issues related to prenatal alcohol exposure, those with no prenatal alcohol exposure should be referred to an appropriate professional or clinic for assessment, treatment and follow-up.
2. The physical examination and differential diagnosis
The purpose of dysmorphology assessment is to identify those with features related to prenatal alcohol exposure and also to identify children with dysmorphic features due to other causes. Occasionally, children with prenatal alcohol effects may have another genetic syndrome as a comorbidity. When in doubt and if feasible, a genetic dysmorphology assesment is advisable.
A general physical and neurologic examination, including appropriate measurements of growth and head size, assessment of characteristic findings and documentation of anomalies (e.g., cleft palate, congenital heart defects, epicanthic folds, high arched palate, poorly aligned or abnormal teeth, hypertelorism, micrognathia, abnormal hair patterning, abnormal palmar creases, skin lesions) is required to exclude the presence of other genetic disorders or multifactorial disorders that could lead to features mimicking FAS or partial FAS ().
Some children will have significant neurologic deficits, such as deafness, blindness or seizures, and these should be assessed and documented as essential components of the child's profile. These features do not discriminate alcohol-exposed from unexposed children. The face of FAS is the result of a specific effect of ethanol teratogenesis altering growth of the midface and brain. Those exposed to other embryotoxic agents may display a similar, but not identical, phenotypic facial development, impaired growth, a higher frequency of anomalies and developmental and behavioural abnormalities (for a review, see Chudley and Longstaffe
24). However, because FAS facial criteria have been restricted to short palpebral fissures, smooth philtrum and thin upper lip, there is far less overlap with the facial phenotypes associated with other syndromes. Knowledge of exposure history will decrease the possibility of misdiagnosing FASD.
Children may be found to need other medical assessments to address co-occurring issues. For example, sleep disturbance is common with prenatal alcohol exposure and medical problems related to obstructive sleep apnea may have been overlooked previously. Atypical seizures may also be present and endocrinopathies may exist as a comorbid reason for growth deficiency. These individuals should be assessed by appropriate health professionals.
2a. Growth Recommendations- Growth should be monitored to detect deficiency. Presence of pre- or post-natal growth deficiency, defined as height or weight at or below the 10th percentile (1.5 standard deviations below the mean) or a disproportionately low weight-to-height ratio (at or below the 10th percentile) using appropriate norms. To determine that a child is growth deficient requires taking into consideration confounding variables such as parental size, genetic potential and associated conditions (e.g., gestational diabetes, nutritional status, illness).
Comments Children affected by prenatal alcohol exposure may have prenatal or postnatal growth deficits. They can be small for gestational age in utero and remain below average throughout their lives with respect to head circumference, weight and height. Many children can have normal growth parameters, but be at risk in later development for clinically significant learning, behavioural and cognitive deficits. If there is no alcohol exposure in the third trimester, the growth parameters can be normal. Gestational diabetes can lead to increased fetal size, which can mask the effects of growth retardation from prenatal alcohol exposure. Furthermore, if the infant is born into a family or a community where “normal” size is above the average for the general population, growth impairment may be masked if the child is compared with standard growth parameters rather than community norms.
14 Growth deficiencies may not persist with age, and infant growth records may not be available for adults coming in for assessment for the first time. There is a need to establish growth norms for the Canadian population and subpopulations that differ from the general population.
2b. Facial features Recommendations- The 3 characteristic facial features that discriminate individuals with and without FAS are:
- Short palpebral fissures, at or below the 3rd percentile (2 standard deviations below the mean).
- Smooth or flattened philtrum, 4 or 5 on the 5-point Likert scale of the lip-philtrum guide.25,39
- Thin vermilion border of the upper lip, 4 or 5 on the 5-point Likert scale of the lip-philtrum guide.
- Associated physical features (abnormalities such as midface hypoplasia, micrognathia, abnormal position or formation of the ears, high arched palate, hypertelorism, epicanthic folds, limb and palmar crease abnormalities and short-upturned nose) should be recorded but do not contribute to establishing the diagnosis.
- Facial features should be measured in all age groups. If a patient's facial features change with age, the diagnosis of the facial features should be based on the point in time when the features were most severely expressed. When diagnosing adults, it can be helpful to view childhood photographs.
Comments A characteristic craniofacial profile associated with FAS was first described by Jones and Smith
40 in 1975 and later refined by Astley, Clarren and others.
25,32,39 Individuals with FAS have short palpebral fissures, a thin upper lip and an indistinct philtrum (). Palpebral fissure length, philtrum and upper lip differ with race and age. Growth and facial anthropometric data are needed for the specific population, as sensitivity and specificity of the assessment will be lowered without the use of appropriate norms. Some discriminating characteristic features in FAS (i.e., upper lip or philtrum) may become less recognizable with age, making accurate diagnosis more difficult in older groups, but facial features should always be measured. More longitudinal research is needed to correlate changes in these characteristic physical findings in adolescents and adults diagnosed with FAS or partial FAS.
Palpebral fissure length () is difficult to measure accurately without training. Thomas and co-workers
41 have published norms for palpebral fissure length at 29 weeks gestation to 14 years. There are a number of opinions about which norms are appropriate,
41,42,43,44 but it is generally agreed that all are flawed in some respect.
Two graphs of palpebral fissure length are presented in Appendix 2. Some discrepancies exist. Both studies used North American white subjects; standards for other populations in Canada are not currently available.
Appendix 2-1 may be more reliable when measuring palpebral fissure length using a plastic ruler (in the experience of one of the authors);
Appendix 2-2 may be more reliable if slide calipers are used (in the experience of one of the authors). Percentile ranks for both graphs seem to be in agreement until age 7 years, after which Appendix 2-2 shows longer palpebral fissures in older children and adolescents than Appendix 2-1. We believe this may be due to differences in measurement technique. Because calipers are not a common tool in most medical clinics, we recommend the use of a clear flexible plastic ruler.
There is a need to establish updated norms for all ages and subpopulations. Astley and Clarren
25,39 have developed norms for the assessment of the lip and philtrum using their pictorial guide. Lip-philtrum guides were developed for use in Caucasian and African-American populations, but no standards are currently available for other populations.
3. Neurobehavioural assessment Recommendations- The following domains should be assessed:
- Hard and soft neurologic signs (including sensory-motor signs).
- Brain structure (occipitofrontal circumference, magnetic resonance imaging, etc.).
- Cognition (IQ).
- Communication: receptive and expressive.
- Academic achievement.
- Memory.
- Executive functioning and abstract reasoning.
- Attention deficit/hyperactivity.
- Adaptive behaviour, social skills, social communication.
- The assessment should include and compare basic and complex tasks in each domain, as appropriate.
- The domains should be assessed as though they were independent entities, but where there is overlap experienced clinical judgment is required to decide how many domains are affected.
- A domain is considered “impaired” when on a standardized measure:
- Scores are 2 standard deviations or more below the mean, or
- There is a discrepancy of at least 1 standard deviation between subdomains. For example:
- i. Verbal v. non-verbal ability on standard IQ tests,
- ii. Expressive v. receptive language,
- iii. Verbal v. visual memory, or
- There is a discrepancy of at least 1.5–2 standard deviations among subtests on a measure, taking into account the reliability of the specific measure and normal variability in the population.
- In areas where standardized measurements are not available, a clinical judgment of “significant dysfunction” is made, taking into consideration that important variables, including the child's age, mental health factors, socioeconomic factors and disrupted family or home environment (e.g., multiple foster placements, history of abuse and neglect), may affect development but do not indicate brain damage.
- Evidence of impairment in 3 domains is necessary for a diagnosis, but a comprehensive assessment requires that each domain be assessed to identify strengths and weaknesses.
- The diagnosis should be deferred for some at-risk children (e.g., preschool-age) who have been exposed to alcohol but may not yet demonstrate measurable deficits in the brain domains or may be too young to be tested in all the domains. However, developmental assessment should identify areas for early intervention.
Examples of tests that are most widely used to assess the domains and their criteria are provided in
Appendix 3.
Comments Research reports have documented a range of cognitive and behavioural outcomes associated with prenatal alcohol exposure. Contemporary studies have reported some of these outcomes in the absence of FAS physical features. Currently, no modal profile of abilities has been found to be unique to alcohol exposure, is observed in all those with prenatal alcohol exposure, or can be distinguished from that observed with some other neurobehavioural disorders. Furthermore, not every deficit that we may identify in a child with prenatal exposure to alcohol may be solely the result of alcohol exposure. An expert analysis of neurodevelopmental deficits caused by a range of teratogens and congenital disorders failed to result in a consensus on core deficits associated only with FASD.
4Research and experience has shown that features of FASD are complex and multifaceted, originating with organic brain damage caused by alcohol, but interacting with genetic and other influences. Over the lifespan of the affected person, these features may be exacerbated or mitigated by environmental experiences.
To make the diagnosis of FAS, features such as microcephaly, structural abnormalities (as may be detected on brain scans) and hard neurologic signs are taken as strong evidence of organic brain damage. We believe that low-average to borderline intelligence and soft neurologic signs alone are insufficient evidence of brain damage because they are frequently found in the general population. Features such as learning difficulties, attention deficit/hyperactivity disorder and deficits in adaptive skills, memory, higher-level language and abstract thinking are frequently seen in children with prenatal alcohol exposure, but also among those with other etiologies. These deficits can be multifactorial in etiology and can also be attributed to genetics or postnatal experiences.
The 4-Digit Diagnostic Code evaluation of the FASD brain is based on levels of certainty, in the judgement of the clinician, that the individual's cognitive and behavioural problems reflect brain damage. A higher rating may reflect a more severe expression of functional disability, asynchronous patterns across domains or certainty based on deficits in multiple domains. The determination is based on objective evidence of “substantial deficiencies or discrepancies across multiple areas of brain performance.”
25,39The IOM
4 also requires “evidence of a complex pattern of behavior or cognitive abnormalities that are inconsistent with developmental level and cannot be explained by familial background or environment alone, such as learning difficulties; deficits in school performance; poor impulse control; problems in social perception; deficits in higher level receptive and expressive language; poor capacity for abstraction or metacognition; specific deficits in mathematical skills; or problems in memory, attention, or judgment,” but is much less specific than the 4-Digit Diagnostic Code with regard to the criteria for determining the deficit.
We have adapted the method of the 4-Digit Diagnostic Code with regard to identifying domains and severity of impairment or certainty of brain damage. Current research shows overlap between the neurobehavioural outcomes in FAS and ARND diagnostic groups when neuropsychologic data are compared.
45 In addition, we believe that a single feature such as microcephaly is not a sufficient indicator of brain damage for the purposes of an FAS diagnosis because it may reflect genetic or ethnic differences not reflected in currently available physical norms. Our concern is that there may be an over-diagnosis of FAS if evidence of brain damage is based on a single indicator as allowed by both the 4-Digit Diagnostic Code and the IOM models. An individual showing hard neurologic signs or structural brain abnormalities (i.e., true brain damage) will likely show additional functional deficits in the listed domains. A diagnosis of full FAS will not be denied by combining the criteria for full FAS and ARND in this harmonized system.
Although the domains are considered to be separate and independent entities, there is obviously overlap. For example, a discrepancy between verbal and non-verbal scores on an IQ test (taking into account normal variability in the population) may be reflecting a specific language disability. If language is deficient, can deficits in verbal memory be considered an additional domain? Does a language deficit represent brain damage if the child has experienced a prolonged period of social deprivation? The cut-off of 2 standard deviations below the mean on standardized tests is recommended to increase confidence that abilities in the domain are impaired as a result of brain damage and are scored as “3” (significant dysfunction) on the 4-Digit Diagnostic Code. With 3 such domains, the brain rank is 3: “probable brain dysfunction.”
We realize that in standard neuropsychologic practice, 1.5 standard deviations below the mean may indicate subtle impairments. Using the 4-Digit Diagnostic Code, the domains would be scored as “moderate dysfunction” and may result in a brain rank of 2: “possible brain dysfunction.” These more subtle findings are an important part of the individual's profile. For the purpose of diagnosis, however, and the certainty that the scores represent injury caused by alcohol, the more extreme cut-off is recommended. The multidisciplinary team, reviewing the data and using experienced clinical judgement, is critical in making an accurate diagnosis as qualitative aspects of performance are also important. The diagnostic profile is dynamic and may change over time; thus individuals affected or suspected to be affected may require several assessments over time. Services should not be based on the diagnosis itself, but rather on the profile of brain function-dysfunction.
4. Treatment and follow-up
Recommendations- Education of the patient and family members on features of FASD is crucial. The potential psychosocial tensions that might be expected to develop within the family as a result of the diagnosis should also be discussed. This must be done in a culturally sensitive manner using appropriate language.
- A member of the diagnostic team should follow-up outcomes of diagnostic assessments and treatment plans within a reasonable length of time to assure that the recommendations have been addressed.
- Diagnosed individuals and their families should be linked to resources and services that will improve outcome. However, where services are limited in the community, an individual should not be denied an assessment for diagnosis and treatment. Often the diagnosis in the individual is the impetus that leads to the development of resources.
5. Maternal alcohol history in pregnancy
Recommendations- Prenatal alcohol exposure requires confirmation of alcohol consumption by the mother during the index pregnancy based on reliable clinical observation, self-report, reports by a reliable source or medical records documenting positive blood alcohol, alcohol treatment or other social, legal or medical problems related to drinking during the pregnancy.
- The number and type(s) of alcoholic beverages consumed (dose), the pattern of drinking and the frequency of drinking should all be documented if available.
- Hearsay, lifestyle, other drug use or history of alcohol exposure in previous pregnancies cannot, in isolation, be informative of drinking patterns in the index pregnancy. However, co-occurring disorders, significant psychosocial stressors and prenatal exposure to other substances (e.g., smoking, licit or illicit drugs) in the index and previous pregnancies should still be recorded, based on known interactive effects of these variables on the severity of pregnancy outcomes for both the mother and her offspring.
Comments Gathering reliable information about maternal drinking is key to establishing an accurate diagnosis. Special attention must be paid to inquiring about maternal alcohol use before the woman recognized that she was pregnant. Some women do not consider that their prior drinking is important and many underreport it. Training is required in how to obtain this information in a non-threatening, non- judgmental way.
Canadian survey data suggest that the number of women who report drinking during pregnancy has decreased. The
National Population Health Survey, 1994–1995
46 and
National Longitudinal Survey of Children and Youth, 1994–1995
47 reported that 17–25% of women drank alcohol at some point during their pregnancy and 7–9% drank alcohol throughout their pregnancy. According to the
National Longitudinal Survey of Children and Youth, 1998–1999
48 14.4% of women drank at some point during their pregnancy and 4.9% drank throughout their entire pregnancy (3% reported binge drinking during pregnancy). In the
Fall 2002 Survey of First Nations People Living on Reserve,
49 53% of the respondents said that cutting down or stopping alcohol use was important for women to have a healthy baby.
The evaluation of “significant alcohol exposure” is often confusing. The IOM describes significant alcohol exposure as “a pattern of excessive intake characterized by substantial, regular intake or heavy episodic drinking”
4 (the National Institute on Alcohol, Alcoholism, and Alcohol Abuse defines heavy alcohol use as drinking 5 or more drinks per occasion on 5 or more days in the past 30 days
36). Evidence of this pattern may include frequent episodes of intoxication, development of tolerance or withdrawal, social problems related to drinking, legal problems related to drinking, engaging in physically hazardous behaviour while drinking, or alcohol-related medical problems such as hepatic disease. As further research is completed and as, or if, lower quantities or variable patterns of alcohol use are associated with alcohol-related birth defects (ARBD) or ARND, these patterns of alcohol use should be incorporated into the diagnostic criteria.
4 6. Diagnostic criteria for FAS, partial FAS and ARND
Recommendations- The criteria for the diagnosis of fetal alcohol syndrome, after excluding other diagnoses, are:
- Evidence of prenatal or postnatal growth impairment, as in at least 1 of the following:
- Birth weight or birth length at or below the 10th percentile for gestational age.
- Height or weight at or below the 10th percentile for age.
- Disproportionately low weight-to-height ratio (= 10th percentile).
- Simultaneous presentation of all 3 of the following facial anomalies at any age:
- Short palpebral fissure length (2 or more standard deviations below the mean).
- Smooth or flattened philtrum (rank 4 or 5 on the lip-philtrum guide).
- Thin upper lip (rank 4 or 5 on the lip-philtrum guide).
- Evidence of impairment in 3 or more of the following central nervous system domains: hard and soft neurologic signs; brain structure; cognition; communication; academic achievement; memory; executive functioning and abstract reasoning; attention deficit/hyperactivity; adaptive behaviour, social skills, social communication.
- Confirmed (or unconfirmed) maternal alcohol exposure.
- The diagnostic criteria for partial fetal alcohol syndrome, after excluding other diagnoses, are:
- Simultaneous presentation of 2 of the following facial anomalies at any age:
- Short palpebral fissure length (2 or more standard deviations below the mean).
- Smooth or flattened philtrum (rank 4 or 5 on the lip-philtrum guide).
- Thin upper lip (rank 4 or 5 on the lip-philtrum guide).
- Evidence of impairment in 3 or more of the following central nervous system domains: hard and soft neurologic signs; brain structure; cognition; communication; academic achievement; memory; executive functioning and abstract reasoning; attention deficit/hyperactivity; adaptive behaviour, social skills, social communication.
- Confirmed maternal alcohol exposure.
- The diagnostic criteria for alcohol-related neurodevelopmental disorder, after excluding other diagnoses, are:
- Evidence of impairment in 3 or more of the following central nervous system domains: hard and soft neurologic signs; brain structure; cognition; communication; academic achievement; memory; executive functioning and abstract reasoning; attention deficit/hyperactivity; adaptive behaviour, social skills, social communication.
- Confirmed maternal alcohol exposure.
- The term alcohol-related birth defects (ARBD) should not be used as an umbrella or diagnostic term, for the spectrum of alcohol effects. ARBD constitutes a list of congenital anomalies, including malformations and dysplasias and should be used with caution ().
Comments Our definition of partial FAS differs from the published IOM criteria.
4 Where significant prenatal alcohol exposure is known and there is significant growth retardation and significant indicative facial features but no evidence of brain involvement, a diagnosis of partial FAS could be made using the IOM criteria. It is our view that, using the term partial FAS in the absence of measurable brain deficits could be harmful for the individual because the diagnosis of partial FAS implies brain dysfunction. If some characteristic facial features and growth impairment, without significant developmental or behavioural problems, are found in children under 6 years of age, it would be prudent to say that the child may be at risk of learning and behaviour problems at a later time due to prenatal alcohol exposure. No alcohol-related diagnosis should be made, but the child must be monitored by the family physician or health care worker and deficits should be documented using a neurodevelopmental assessment.
The term “partial” in partial FAS does not imply that these individuals are less severely impaired in day-to-day functioning than those with a diagnosis of FAS, as the deficits in brain function may be similar.
7. Harmonization of the Institute of Medicine (IOM) and 4-Digit Diagnostic Code approaches
Recommendations- The approach identified in the 4-Digit Diagnostic Code should be used to describe, assess and measure objectively alcohol exposure, growth, facial features and brain damage. The 4-Digit Diagnostic Code should be recorded for each assessment and may be useful for surveillance and research purposes.
- The terminology in the IOM criteria should be used to describe the diagnosis.
Comments and illustrate how we recommend harmonizing the IOM and 4-Digit Diagnostic Code criteria. The ARBD category has limited utility in the diagnosis, but we do recognize that alcohol is teratogenic and may be responsible for birth defects if exposure occurs during critical periods of development. However, in the absence of other features of FAS or brain deficits, it is difficult to attribute causation.
See the reply "
