Review of Diagnostic Methods

FAS Evaluation

(FAS Technical Report No. 8) Behavioral Health Research and Services (BHRS) is a research workgroup in the College of Arts and Sciences, University of Alaska Anchorage, dedicated to improving the behavioral and physical health of all members of our community. Our office is comprised of faculty, staff, and graduate and undergraduate students who conduct research, provide evaluation, and lead trainings and workshops for federal, state and municipal government agencies, non-profit organizations, and private enterprises. Our core staff members are:

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P.O. Box 241626 Anchorage, AK 99524-1626 Review of Diagnostic Methods

Prepared by ACSES Staff July 31, 2002

Background

As part of the conditions of funding the statewide Alaska FAS Prevention Project, SAMHSA requested that the project be evaluated by an independent team of evaluators. This evaluation contract was awarded to the Center for Human Development (CHD) at the University of Alaska Anchorage (UAA), with the request that the evaluation be conducted by an interdisciplinary team of evaluators from across the UAA campus. Staff at CHD subsequently selected various professionals from the UAA community to build the Evaluation Team and to divide the work involved in the evaluation of the FAS Prevention Project. The FAS Project Principal Evaluation Team selection began in February 2001 (3rd Quarter of FY 01 of the grant). In August 2001, a comprehensive evaluation plan was submitted to the FAS Advisory Team and State Office of FAS for review and approval. Following submittal of the evaluation plan application to the University of Alaska Institutional Review Board (IRB) and receipt of funding from the state in August 2001, the detailed actions defined in the Diagnostic Evaluation Plan were initiated in October 2001 (2nd Quarter of FY 02 of the grant).

The Alaska Comprehensive and Specialized Evaluation Services (ACSES) was one of the groups approached by CHD to participate as a member of the FAS Project Principal Evaluation Team. ACSES was honored to take on the evaluation of diagnosis-related activities, committing to activities to meet five large goals. One of these goals was the review of FAS diagnostic methods that have been used in Alaska and across the United States. This report provides an update on activities and findings about this goal to date.

Activities To Date

Data collection in the form of literature searches about FAS diagnostic methods began immediately upon hiring a project manager for the ACSES-run Diagnostic Evaluation Plan (DEP) component of the Alaska FAS Evaluation Project in November 2001 (2nd Quarter of FY 02 of the grant). Using a matrix design, data obtained from several sources (e.g., research articles, books, government publications, interviews) were recorded regarding the primary FAS diagnostic methods and criteria currently in use nationwide. Specifically, data have been and continue to be collected about the following FAS diagnostic methods and approaches:

 University of Washington (UW) FAS Diagnostic Prevention Network (DPN) 4-Digit Diagnostic Code method  Institute of Medicine’s (IOM) guidelines for diagnostic and clinical evaluation of FAS  Centers for Disease Control (CDC) case surveillance criteria for diagnosing FAS  North Dakota FAS Center method for diagnosing FAS

In February 2002, an ACSES staff member attended the UW FAS DPN training in Seattle to receive in-depth training in the 4-Digit Diagnostic Code method, the model used by the state- funded diagnostic teams in Alaska. Additional contacts with other researchers (specifically, Philip May, Ph.D., University of New Mexico Health Sciences Center) are being pursued in an attempt to obtain further information regarding diagnostic methods being used and available tools.

Brief Description of the Major Identified FAS Diagnostic Approaches

Institute of Medicine’s Guidelines for Diagnostic and Clinical Evaluation of FAS

Based on the concerns regarding the magnitude of the problems associated with FAS, the United States Congress mandated that a study be performed under the Institute of Medicine of the National Academy of Sciences. A committee of experts was assembled to address these issues, including a review and revision of existing FAS diagnostic criteria. The IOM’s committee delineated five FAS-related diagnostic categories as follows: 1) FAS with a history of maternal alcohol exposure; 2) FAS without a history of maternal alcohol exposure; 3) partial FAS with a history of maternal alcohol exposure; 4) alcohol related birth defects (ARBD); and 5) alcohol- related neurodevelopmental disorder (ARND). Included in the 1996 IOM publication, Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention and Treatment, were revised diagnostic criteria based on information gathered within the following four key areas (pp. 76-77):

1. maternal alcohol exposure 2. characteristic pattern of facial anomalies 3. growth retardation 4. central nervous system (CNS) neurodevelopmental abnormalities and/or complex pattern of behavioral or cognitive abnormalities

Maternal Alcohol Exposure. A simple dichotomous ranking is used to discern alcohol exposure (diagnosis with confirmed versus diagnosis without confirmed fetal alcohol exposure). Confirmed alcohol exposure is defined as a pattern of excessive alcohol intake by the biological mother during pregnancy, characterized by regular or heavy episodic drinking. If this description is not met, a without confirmed alcohol exposure designation is chosen.

Facial Anomalies. Qualitative definitions for FAS facial phenotype are used for diagnosis. Characteristics that are looked for include abnormalities in palpebral fissures, philtrum, and upper lip. The IOM method relies upon the discretion of the physician or researcher to select the number and type of facial anomalies to choose and to what degree they must be expressed to meet criteria for a diagnosable FAS phenotype. The IOM system does not provide guidelines to document the magnitude of expression to be used in classifying a given feature. Using this system, FAS can be diagnosed with only a single facial anomaly present. Growth Retardation. Determination of growth delay is based on one of three designated situations: 1) low birth weight for gestational age; 2) decelerating weight over time not due to nutrition; and 3) disproportional low weight to height. The IOM system does not clarify the magnitude of deviation from the mean that is required before a criterion for presence of a diagnosable symptom in these three areas is met.

Central Nervous System Symptoms. As with the assessment of the facial features, the central nervous system diagnostic criteria in the IOM system are very general in nature. Guidelines are not provided that describe the magnitude of expression or deviation from the mean necessary for a positive identification for diagnosis. In general, central nervous system dysfunction is identified by the presence and number of structural or functional anomalies. Evidence of the following four structural and functional anomalies are used to support a diagnosis: 1) decreased cranial size at birth; 2) structural brain abnormalities (e.g., microcephaly, partial or complete agenesis of the corpus callosum, cerebellar hypoplasia); 3) age appropriate neurological hard or soft signs (e.g., impaired fine motor skills, neurosensory hearing loss, poor tandem gait, poor eye-hand coordination); and 4) a complex pattern of behavior or cognitive abnormalities that are inconsistent with developmental level and cannot be explained by familial background or environment alone. Presence of any one of the first three anomalies listed is required for an FAS diagnosis.

Once assessments in these four key areas have been completed, a diagnostic category is assigned based on the combination and presence of FAS diagnostic features. The IOM method is more of a gestalt, rather than a criterion-based, approach to diagnosis. Based on this approach, diagnostic outcomes can be more variable between providers, but are easier to make (i.e., they require less staff time and fewer resources). For example, unlike other FAS diagnostic systems, diagnoses using the IOM method may be made by a single provider. However, due to the difficulty of the diagnosis, the IOM committee noted that, although trained clinicians can make a preliminary diagnosis for screening and referral purposes, final medical diagnosis should be performed only by dysmorphologists or clinical geneticists.

The University of Washington (UW) FAS Diagnostic Prevention Network (DPN) 4-Digit Diagnostic Code

The University of Washington (UW) FAS Diagnostic Prevention Network (DPN) clinics are different from many other pediatric genetic and neurodevelopmental clinics in several ways, including: 1) FAS DPN clinics all follow the same comprehensive, case-defined method for diagnosis; 2) a multidisciplinary approach to diagnosis and treatment planning is used; and 3) intervention efforts are focused on both the child and birth mother.

Although the 4-Digit Diagnostic Code, developed in 1997, is consistent with the 1996 Institute of Medicine (IOM) guidelines, it provides a more detailed case definition than that method (which is described briefly above). The UW method employs a four-digit diagnostic code, reflecting both the magnitude of expression of potentially FAS-related symptoms and the strength of evidence to support the presence of an organic cause for brain dysfunction. For each assessed individual, one code is derived for each of the following four areas of assessment: 1. growth deficiency 2. facial phenotype 3. gestational alcohol exposure 4. identifiable organic cause for brain dysfunction

Each of these four key diagnostic features is ranked separately using a 4-point Likert scale, ranging from complete absence of expression (1) to strong presence of the FAS feature (4). Diagnoses using the 4-Digit Diagnostic Code method lends itself to a multidisciplinary team approach as it involves the assessment of multiple symptom complexes in the assessed individual.

Growth Deficiency. Information about growth deficiency is typically collected by a medical provider, preferably a pediatric nurse practitioner, pediatrician, or family physcian. Determination of growth delay is based on evidence using the individual’s assessed height and weight (adjusted for age and gender, and parental height when available), each measured independently. The height and weight values are each assigned a score based on three defined percentile rankings representative of the degree of deficiency, using normal growth charts. The combined scores are then assigned a 4-digit code rank based on the level of deficiency. This Likert scale score ranges from no deficiency (1) to severe (4).

Facial Phenotype. Information about facial phenotype is typically collected by a physician. The 4-digit ranking of the FAS facial phenotype is determined by using three pre-identified features (palpebral fissure, philtrum, and upper lip). Each feature is measured on a Likert scale, assessing magnitude of expression through the use of case-defined, objective, quantitative, and ordinal or continuous measurement scales. Specifically, palebral fissure length is ranked according to a z- score; philtrum is ranked on an ordinal 5-point Likert scale; and upper lip circularity is measured on a continuous Likert scale, ranging from a minimum of 35 (1) to a maximum of 178 (4). Based on scores for each three features, one overall score is assigned that can range from absent (1) to severe (4).

Gestational Alcohol Exposure. Level of exposure to alcohol in utero is measured on a 4-point Likert scale ranging from confirmed no exposure (1) to confirmed exposure with a pattern consistent with the medical literature placing a fetus at high risk (4). This information is obtained through interviews with caregivers, biological parents, or similar informants; or alternatively, and perhaps preferably is extracted from neonatal medical chart data.

Identifiable Organic Cause for Brain Dysfunction. Drawing on the specialized expertise of psychologists, neurospychologists, speech and language pathologists, and similarly-trained professionals, individuals are assessed on several dimensions of performance related to brain functioning. Multiple cross-disciplinary assessments of the presence and number of structural, neurological, and functional anomalies are then used to determine the strength of evidence to support the presence of an organic cause for any identified brain dysfunction. Deficiencies are defined by the specialized professionals if the assessed individual’s performance falls outside of normal limits, determined via standardized testing procedures. This system allows clinicians to differentiate between individuals with clear evidence of brain damage (static encephalopathy) and individuals without evidence of brain damage. This information is integrated to provide a score that ranges from absent (1) to definite (4).

This diagnostic system conveys the diversity of outcomes among individuals with prenatal alcohol exposure and clearly separating exposure from outcome (or symptoms). Twenty-two (22) of the 256 possible 4-digit diagnostic code combinations meet criteria for and are categorized as Fetal Alcohol Syndrome. The other 234 4-digit diagnostic code combinations further describe the full spectrum of possible outcomes (i.e., symptoms) among individuals with prenatal alcohol exposure

The 4-Digit Diagnostic Code method can be used as both a diagnostic and screening tool. The diagnostic accuracy and precision of this system is a reproducible method that diminishes the variance of diagnosis from clinic to clinic and can be used for conducting retrospective chart reviews for positive surveillance. Studies completed at UW indicated that a lower proportion of patients are diagnosed with FAS using the 4-digit code as compared to a Gestalt method such as the IOM strategy described above. These results are attributable to the 4-Digit Diagnostic Code system’s demands for more stringent adherence to the FAS diagnostic criteria through the specific case definitions for each diagnostic component.

The 4-Digit Diagnostic Code, currently used by the UW FAS DPN clinics and the Alaska FAS diagnostic teams, differs from the IOM approach to diagnosis in the following ways:

 Each domain is specifically case-defined to increase accuracy and reproducibility.  Objective, quantitative measures using z-scores, ordinal, and continuous scales are used to more accurately capture the full continuum of outcomes and exposure.  A more descriptive nomenclature is provided to accurately describe outcomes, rather than the generalized use of terms such as FAE or ARBD.  An evidence-based approach is used requiring evidence to generate each component of the code.

Contact persons for this FAS/ARBD diagnostic method are Susan Astley, Ph.D., and Sterling Clarren, M.D., both at the University of Washington FAS Diagnostic and Prevention Network (206) 526-2100.

The Centers for Disease Control and Prevention Case Surveillance Criteria for Diagnosing FAS

The Centers for Disease Control (CDC) case definition, as used in the Fetal Alcohol Syndrome Surveillance Network (FASSNet) project, is based on the 1996 IOM report and used for case identification, not diagnosis. The FASSNet model is a useful tool to engage in surveillance of FAS and to evaluate the impact of prevention, education, and intervention programs. The criteria are applied using passive surveillance methodologies, resulting in a reliable and valid system of information-gathering through chart extraction.

A committee of experts in dysmorphology, psychology, and public health surveillance adapted the IOM’s case definition criteria and created five diagnostic criteria that differ from those identified by the IOM (listed above). The five modified diagnostic categories used for CDC surveillance purposes are as follows: 1) confirmed FAS phenotype with maternal alcohol exposure; 2) confirmed FAS phenotype without maternal alcohol exposure; 3) probable FAS phenotype with maternal alcohol exposure; 4) probable FAS phenotype without maternal alcohol exposure; and 5) suspect (all children referred into the FASSNet surveillance system). The first two diagnostic categories are identical to the IOM system, the third IOM category refers to “partial” while the CDC category refers to “probable”, and the fourth and fifth categories differ significantly in the described parameters.

The FASSNet uses the same four categories for determining FAS diagnosis as does the IOM. However, within each category significant differences exist between the two systems in the specific data that is obtained and how it is obtained.

Growth Delay. Determination of growth delay is made using intrauterine or postnatal measures of weight or height. Growth delay is dichotomously measured (growth delay present or growth delay absent) based on an established cut-off percentile value for measured height and weight that is considered indicative of a deficiency. These percentile values are based on age-adjusted height and weight tables.

Facial Features. To assess facial phenotype, information is extracted from the medical record about abnormalities in palpebral fissures, philtrum, and upper lip. A qualitative definition for FAS facial phenotype (described as abnormal facial features consistent with FAS as reported by a physician) must be met or the presence of two of three qualitatively identified features must be documented for diagnosis (i.e., short palpebral fissures, abnormal philtrum, or thin upper lip). Using the CDC surveillance method, it is left to the discretion of the physician to select the number and type of facial anomalies to choose, and to what degree they are expressed to define the FAS phenotype.

Central Nervous System Dysfunction. Central nervous system dysfunction is identified by the presence and number of structural or functional anomalies. The following five structural and functional anomalies are sought in the medical record: 1) frontal occipital circumference (FOC) of less than or equal to the 10th percentile; 2) standardized measure of intellectual function greater than or equal to one standard deviation below the mean; 3) standardized measure of developmental delay of greater than or equal to one standard deviation below the mean; 4) developmental delay or mental retardation diagnosed by a qualified examiner (e.g., psychologist, physician); and 5) attention deficit disorder (ADD) diagnosed by a qualified evaluator. Presence of any one of the above-listed anomalies is required for a confirmed FAS identification. Designation of Probable FAS Phenotype with or without maternal alcohol exposure may be made based on the presence of growth deficiency or any one of the above listed CNS criteria. Criteria four and five are considered as meeting criteria for dysfunction based on evaluation of absence versus presence by a qualified examiner.

Gestational Alcohol Exposure. Maternal alcohol use is determined by the presence or absence of documentation in the medical records of some level of maternal alcohol use during the index pregnancy. It is simply noted as absent or present. As is true in the IOM method, once data have been extracted about all four diagnostic areas of interest, a diagnostic category is assigned based on the combination and presence of the four key FAS diagnostic features. An algorithm containing 1,300 variables is used for this determination; details are available in an unpublished document produced by the CDC.

A local contact person with more information about the CDC method for FAS surveillance and FAS/FAE diagnosis is Susan Merrick, MSW, FAS Surveillance Project Coordinator of the Alaska Department of Health and Social Services, Division of Epidemiology. She can be reached at (907) 269-3406. Additional information is available from the United States Centers for Disease Control and Prevention in Atlanta, Georgia, via their website (www.cdc.gov).

The North Dakota FAS Center Method for Diagnosing FAS

The North Dakota FAS Center uses a simple and rapid screening tool designed for community- wide use to quickly, easily, and cost effectively screen groups of individuals to determine those at risk for FAS or FAE. Two tools, the FAS Screen, which is based on physical signs, and the ARND Screen, which is based on behavioral signs, are part of a linked system for identification and management of children with FAS. Once a child is identified through the screening process as being at high risk for FAS or FAE, a multidisciplinary team is used to perform the actual diagnosis. The North Dakota FAS Center’s FAS Diagnostic Profile, a weighted checklist-type scoring system, was developed to aide physicians in making such a final diagnosis by systematizing the necessary examination.

Three diagnostic categories as defined by this system: 1) FAS with confirmed alcohol exposure, 2) FAS without confirmed alcohol exposure, and 3) Partial FAS with confirmed alcohol exposure. Criteria for diagnosis are determined within the same following four general areas used by all other diagnostic systems. However, within these four areas, how the data are obtained and used differs somewhat from the other systems.

1. growth deficiency 2. pattern of specific minor facial anomalies 3. CNS dysfunction 4. maternal alcohol use

Growth Retardation. Evidence of growth retardation in nine areas from infancy to present are identified and assigned a numeric score based on quantifiable deviations from normative scales. The nine areas are as follows: 1) current height; 2) current weight; 3) current occipital frontal circumference (OFC); 4) birth weight; 5) birth length; 6) birth OFC; 7) delayed motor milestones; 8) generalized hirsutism (before six months of age); and 9) feeding problems in infancy. Based on individual scores for each of the nine features, a subtotal for this diagnostic feature may range from zero to 54.

Physical Anomalies. Numeric scores are assigned for 18 identified facial anomalies and are based on a dichotomous (presence or absence) scale. These feature are as follows: 1) outer canthal distance; 2) inner canthal distance; 3) palpebral fissure length; 4) epicanthal folds; 5) strabismus; 6) ptosis; 7) exotropia; 8) esotropia; 9) protruding helical root; 10) protruding auricle; 11) low nasal bridge; 12) anteverted nostrils; 13) long philtrum; 14) smooth philtrum; 15) narrow/smooth vermilion border; 16) cleft lip/palate; 17) hypoplastic midface (hypoplastic maxilla); and 18) relative prognathism (after infancy). Thirty-six other designated physical anomalies may also be flagged as absent or present. Based on the presence of the above listed 18 features, a weighted subtotal for this diagnostic feature is established ranging from zero to 79.

Neurological Symptoms. Two identified neruopsychiatric findings (intelligence quotient [IQ] and attention deficit hyperactivity disorder [ADHD]), meet the criteria for numeric scores. The ADHD score is assigned using a dichotomous scale, while IQ ratings are assigned based on the IQ performance. Based on scores for the three features, a weighted subtotal for this diagnostic feature may range from zero to 16.

Gestational Alcohol Exposure. Levels of alcohol exposure are assigned numeric scores ranging from zero (no drinking during pregnancy) to 50 (heavy drinking as characterized by daily alcohol intake with variable binges per month) based on the presence or absence of daily alcohol intake, number of drinks weekly, and number of binges per month.

Based on information derived from the physical examination and maternal alcohol exposure scores of the FAS Diagnostic Profile, scores for each of the four areas are summed, with the total ranging from 0 to 150. This total score along with the presence of minor criteria are used to aid the physician in the interpretation and derivation of a diagnosis of FAS and related disorders. Total scores of 86 to 150 indicate Probable FAS; scores of 70 to 85 indicate Possible FAS; scores of 60 to 69 indicate suspicion of FAS; and scores of 0 to 59 indicate that FAS is unlikely.

A contact person for the North Dakota FAS Center Method for Diagnosing FAS is Larry Burd, Ph.D., of the North Dakota FAS Center. He can be reached at (701) 780-2477.

Summary

In comparing the diagnostic systems used across the United States, the primary differences emerged not in terms of criteria used for diagnosis, but rather, in terms of how criteria are applied procedurally (e.g., quantitative vs. qualitative measurement scales, multidisciplinary vs. individual discipline, active vs. passive prevalence ascertainment, screening vs. clinic-based diagnosis). All the methods reviewed in this report evaluate the same four key FAS diagnostic features (growth deficiency, facial phenotype, brain dysfunction, and gestational alcohol exposure) for derivation of a FAS diagnosis. The 4-Digit Diagnostic Code, IOM method, and the North Dakota FAS Center methods may be used for screening and diagnosis. The CDC methodology is reserved for surveillance. The existence of other systems for FAS screening and diagnosis and system variations will be explored and reported upon in the future. We have already identified one such system, developed by Philip May, M.D., University of New Mexico Health Sciences Center. This system is in the process of being reviewed by ACSES and will be reported upon separately.

Table One below summarizes and compares each of the described methods approach to diagnosing FAS. Additional Resources

Alaska Department of Health and Social Services, Division of Public Health, Section of Maternal, Child, and Family Health, Epidemiology Unit. (2002). Fetal alcohol syndrome prevalence in Alaska: New findings from the FAS surveillance project. Family Health Dataline, 8(2), 1-2. Alaska Department of Health and Social Services, Division of Public Health, Section of Maternal, Child, and Family Health, Epidemiology Unit. (2001). Fetal alcohol syndrome prevalence in Alaska: New findings from the FAS surveillance project. Family Health Dataline, 7(1), 17-18. Alaska FAS Prevention Steering Committee. (1996). The Alaska fetal alcohol syndrome prevention project. Federal Practitioner, 13(8), 54-59. Astley, S. J., Bailey, D., Talbot, C., & Clarren, S. (2000). Fetal alcohol syndrome (FAS) primary prevention through FAS diagnosis: I. Identification of high-risk birth mothers through the diagnosis of their children. Alcohol & Alcoholism, 35, 499-508. Astley, S. J. & Clarren, S. K. (2001). Measuring the facial phenotype of individuals with prenatal alcohol exposure: Correlations with brain dysfunction. Alcohol & Alcoholism, 36, 147-159. Astley, S. J. & Clarren, S. K. (1999). Diagnostic guide for Fetal Alcohol Syndrome and related conditions: The 4-digit diagnostic code. Seattle: University of Washington Publication Services. Astley, S. J. & Clarren, S. K. (1995). A fetal alcohol syndrome screening tool. Alcoholism: Clinical and Experimental Research, 6, 1565-1571. Burd, L. (1999). The ARNDD screen: Screening for alcohol related neurobehavioral disorders and fetal alcohol effect. Minot, ND: North Dakota Fetal Alcohol Syndrome Center, University of North Dakota. Burd, L. (1999). The FAS screen: Fetal alcohol syndrome screening training manual. Minot, ND: North Dakota Fetal Alcohol Syndrome Center, University of North Dakota. Center for Disease Control and Prevention (2002). Fetal alcohol syndrome: Alaska, Arizona, Colorado, and New York, 1995-1997. CDC MMWR Weekly, 51, 433-435. Center for Disease Control and Prevention (1977). Surveillance for fetal alcohol syndrome using multiple sources. CDC MMWR, 46, 1118-1120. Institute of Medicine (IOM), Stratton, K. R., Howe, C. J., & Battaglia, F. C. (Eds.). (1996). Fetal alcohol syndrome: Diagnosis, epidemiology, prevention and treatment (pp.63-81). Washington, DC: National Academy Press. Martsolf, J. T., & Burd, L. (1998). The fetal alcohol syndrome diagnostic profile. Minot, ND: North Dakota Fetal Alcohol Syndrome Center, University of North Dakota. National Institute on Alcohol Abuse and Alcoholism. (1997). Ninth special report to the U.S. congress on alcohol and health (pp.193-196) (Publication No. RP0973). Washington, DC: National Clearinghouse for Alcohol and Drug Information. Roberts, G., Nanson, J. (2000). Best practices fetal alcohol syndrome/fetal alcohol effects and the effects of other substance use during pregnancy. Ottawa, Ontario: Health Canada Publications. Table One

UW 4-Digit Diagnostic Institute of Medicine CDC FASSNet Case North Dakota FAS Code (IOM) Categories Center Diagnostic - 256 possible - FAS with - Confirmed FAS - FAS with Categories diagnostic codes confirmed maternal phenotype with confirmed - 22 clinical alcohol exposure maternal alcohol alcohol exposure diagnostic - FAS without exposure - FAS without categories confirmed maternal - Confirmed FAS confirmed - 4 categories and 22 alcohol exposure phenotype without alcohol exposure 4-digit diagnostic - Partial FAS with maternal alcohol - Partial FAS with codes meet the confirmed alcohol exposure confirmed criteria for FAS exposure - Probable FAS alcohol exposure - Alcohol-related phenotype with birth defects maternal alcohol (ARBD) exposure - Alcohol-related - Probable FAS neurodevelop- phenotype without mental disorder maternal alcohol (ARND) exposure - Suspect Derivation of Assignment of a 4-digit A diagnostic category is A diagnostic category is Scores derived from the Diagnosis code ranging from (1) assigned based on the assigned based on the FAS Diagnostic Profile absence to (4) strong combination and presence combination and presence are summed, with the presence or evidence of of the four key FAS of the four key FAS total ranging from 0 to features in the four key diagnostic features diagnostic features 150 in addition to the diagnostic features presence of minor criteria to aid the physician in the interpretation and diagnosis

Table One Continues Table One Continued

UW 4-Digit Diagnostic Institute of Medicine CDC FASSNet Case North Dakota FAS Code (IOM) Categories Center Growth Growth delay in height and Determination of growth Quantifiable intrauterine or Evidence of growth deficiency weight (adjusted for age, delay is based on evidence postnatal measures of retardation in nine areas gender, and parental height in one of three designated weight or height are from infancy to present when available) are situations. Qualifying dichotomously ranked are identified and measured independently of deviations from standard (growth delay or not assigned a numeric score one another; height and scales are not specified. growth delayed) based on based on quantifiable weight results are ranked an established value for deviations from individually and then in growth percentile normative scales combination to determine designated as a deficiency the overall magnitude of expression (4-digit ranking) Facial FAS facial phenotype Qualitative identification Qualitative physician – Numeric scores are phenotype defined using 3 pre- of at least one defined FAS facial assigned for 18 identified features, characteristic facial anomalies needed for a identified facial measuring the magnitude anomaly for FAS designation of the FAS anomalies and are based of expression of each diagnoses facial phenotype or the on a dichotomous feature using z-scores, presence of two of three (presence or absence) ordinal, and continuous qualitatively identified scale scales (short palpebral fissures, abnormal philtrum, thin upper lip) features

Table One Continues Table One Continued

UW 4-Digit Diagnostic Institute of Medicine CDC FASSNet Case North Dakota FAS Code (IOM) Categories Center Central The number of quantified Identification of Identification of at least Two identified Nervous System structural, neurological, neurodevelopmental one structural or functional neruopsychiatric and functional anomalies abnormalities in one of anomaly (some anomalies findings, (intelligence are used to rank the three identified categories quantified for aberrancy quotient [IQ] and strength of evidence to are specified; or PFAS, [number of standard attention deficit support the presence of an ARBD, or ARND deviations from the mean], hyperactivity disorder organic cause for brain diagnoses can be based on while others are not) [ADHD]), meet the dysfunction identification of behavior criteria for numeric or cognitive abnormalities. scores. The ADHD Guidelines are not score is assigned using a provided describing the dichotomous scale, while magnitude of expression or IQ ratings are assigned a required deviation from based on the IQ normative test scores performance necessary for a positive identification for diagnosis. Alcohol Levels of exposure defined Dichotomous ranking is Dichotomous Alcohol exposure levels exposure on a 4-point Likert scale used to discern alcohol categorization based on are assigned numeric ranging from confirmed no exposure with confirmed documentation of the scores ranging from zero exposure (1) to a alcohol exposure defined presence or absence of (no drinking during confirmed exposure with a as a pattern of excessive some level of maternal pregnancy) to 50 based pattern consistent with the intake characterized by alcohol use during the on the presence or medical literature placing a regular or heavy episodic index pregnancy absence of daily alcohol fetus at high risk (4) intake, otherwise a without intake, number of drinks confirmed alcohol weekly, and number of exposure designation is binges per month selected FAS Evaluation Technical Report Listing  Cost of the FASD Diagnostic Process In Alaska (BHRS FAS-Related Technical Report No. 28)  Summary Report of the Alaska Multidisciplinary FASD Diagnostic Team Data (BHRS FAS-Related Technical Report No. 27)  Ethnographic Analysis of the Juneau FASD Diagnostic Clinic (BHRS FAS-Related Technical Report No. 26)  Ethnographic Update Report of the Alaska Multidisciplinary FASD Teams (BHRS FAS-Related Technical Report No. 25)  Disbanded FASD Teams: Events and Lessons Learned (BHRS FAS-Related Technical Report No. 24)  Relationship of IQ to Fetal Alcohol Spectrum Disorders (BHRS FAS-Related Technical Report No. 23)  Ethnographic Analysis of the Upper Tanana FASD Support and Diagnostic Team (BHRS FAS-Related Technical Report No. 22)  Fiscal Year 2003 Quarter Two and Three Summary Report of the Alaska Multidisciplinary FASD Diagnostic Team Data (BHRS FAS-Related Technical Report No. 21)  Matrix Analysis of Satisfaction Measures Used by the FASD Diagnostic Teams in the State of Alaska (BHRS FAS-Related Technical Report No. 20)  Matrix Analysis of Assessment Tools Used by the FASD Diagnostic Teams in the State of Alaska (BHRS FAS-Related Technical Report No. 19)  Matrix Analysis of the Charting Methods Used by the FASD Diagnostic Teams in the State of Alaska (BHRS FAS-Related Technical Report No. 18)  Ethnographic Analysis of the Yukon-Kuskokwim Multidisciplinary FASD Diagnostic Team (BHRS FAS-Related Technical Report No. 17)  Ethnographic Analysis of the Ketchikan FAS Diagnostic Clinic (BHRS FAS-Related Technical Report No. 16)  Ethnographic Analysis of the Mat-Su Fetal Alcohol Resource Project (BHRS FAS-Related Technical Report No. 15)  Ethnographic Analysis of the Sitka Neurodevelopmental Clinic (BHRS FAS-Related Technical Report No. 14)  Ethnographic Analysis of the Fairbanks Fetal Alcohol Community Evaluation Services Team (BHRS FAS-Related Technical Report No. 13)  Fiscal Year 2003 Quarter One Summary Report of the Alaska Multidisciplinary FAS Diagnostic Team Data (BHRS FAS-Related Technical Report No. 12)  Ethnographic Analysis of the Kodiak FAS Diagnostic Team (BHRS FAS-Related Technical Report No. 11)  Summary Report of the Alaska Multidisciplinary FAS Diagnostic Team Data (BHRS FAS-Related Technical Report No. 10)  Cataloging of Historical and Current Legislative Decisions, Medical Practices and Agency Policies Regarding FAS (BHRS FAS-Related Technical Report No. 9)  Review of Diagnostic Methods (BHRS FAS-Related Technical Report No. 8)  Ethnographic Analysis of the Northwest Arctic Multidisciplinary FAS Diagnostic Team (BHRS FAS-Related Technical Report No. 7)  Ethnographic Analysis of the Nome Multidisciplinary Diagnostic Team (BHRS FAS-Related Technical Report No. 6)  Ethnographic Analysis of the Bristol Bay FAS Community Diagnostic Team (BHRS FAS-Related Technical Report No. 5)  Ethnographic Analysis of the Kenai Peninsula Multidisciplinary FAS Diagnostic Team (BHRS FAS-Related Technical Report No. 4)  Ethnographic Analysis of the Multidisciplinary Developmental Disability Team (BHRS FAS-Related Technical Report No. 3)  Ethnographic Analysis of the Southcentral Foundation FAS Diagnostic Team (BHRS FAS-Related Technical Report No. 2)  Ethnographic Analysis of the Center for Children with Special Needs (BHRS FAS-Related Technical Report No. 1)