FASD 4-Digit Diagnostic Code Susan J. Astley, Ph.D. Professor of Epidemiology University of Washington Director Washington State FAS Diagnostic & Prevention Network

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The 4-Digit Diagnostic Code GrowthFaceCNSAlcohol significantseveredefinite4 moderatemoderateprobable3 mildmildpossible2 nonenoneunlikely1 GrowthFAS FacialCNS DeficiencyFeaturesDamage 4high risk 3some risk 2unknown 1no risk Prenatal Alcohol

Example of 4-Digit Codes within Diagnostic Categories A-C AFAS (alcohol exposed) BFAS (alcohol exposure unknown) CPartial FAS (alcohol exposed)

Clinical Summary (Each of the 22 Diagnostic Categories has a generic summary) Final Diagnosis:(1) Partial FASC (2) Alcohol exposed Fetal Alcohol Syndrome (FAS) is defined by evidence of growth deficiency, a specific set of subtle facial anomalies, and evidence of central nervous system (CNS) damage/dysfunction occurring in patients exposed to alcohol during gestation. Not all individuals exposed to alcohol during gestation have FAS. Indeed, many patients who have been exposed to alcohol show most, but not all, of the classic features of this syndrome. We use the term “Partial FAS” when a patient’s characteristic features are very close to the classic features of FAS and the alcohol history strongly suggests that alcohol exposure during gestation was at high risk and likely to have played a role in the syndrome. Patients with Partial FAS either have the full set of facial anomalies found with FAS and evidence of CNS damage/dysfunction, but do not have growth deficiency; or they have growth deficiency and evidence of CNS damage/dysfunction, and most, but not all of the FAS facial features. The severity of CNS damage/dysfunction is comparable between FAS and PFAS. As you can see from the enclosed list of features found in this patient, the patient meets the criteria for Partial FAS. Patients diagnosed with Partial FAS must have confirmed exposure to alcohol during gestation. In addition to prenatal exposure to alcohol, a number of other factors could be contributing to the patient’s current problems, such as the patient’s genetic background, other potential exposures or problems during pregnancy, and various experiences since birth. Such factors may partly explain why there is so much variability in the kinds of specific difficulties patients with Partial FAS experience. Patients with Partial FAS have significant CNS damage/dysfunction and should be viewed as having a disability. The diagnosis has implications for educational planning, societal expectations, and health. On the attached sheet you will find a list of specific concerns that have been identified that need attention. ____________________________________________________________ Physician's SignatureDate

22 Diagnostic Categories (A-V): 8 Fall under FASD Umbrella Prenatal Alcohol Exposure Unknown K Sentinel physical findings / static encephalopathy (alc. exp. unk.) L Static encephalopathy (alc. exp. unk.) M Sentinel physical findings / neurobehavioral disorder (alc. exp. unk.) N Neurobehavioral disorder (alc. exp. unk.) O Sentinel physical findings (alc. exp. unk.) P No sentinel physical findings or CNS abnormalities (alc.exp. unk.) NO Prenatal Alcohol Exposure Q Sentinel physical findings / static encephalopathy (no alc. exp.) R Static encephalopathy (no alc. exp.) S Sentinel physical findings / neurobehavioral disorder (no alc. exp.) T Neurobehavioral disorder (no alc. exp.) U Sentinel physical findings (no alc. exp.) V No sentinel physical findings or CNS abnormalities (no alc. exp.) A FAS (alcohol exposed) B FAS (alcohol exposure unknown) C Partial FAS (alcohol exposed) D FAS phenocopy (no alcohol exposure) Prenatal Alcohol Exposed E Sentinel physical findings / static encephalopathy (alc. exp.) F Static encephalopathy (alc. exp.) G Sentinel physical findings / neurobehavioral disorder (alc. exp.) H Neurobehavioral disorder (alc. exp.) I Sentinel physical findings (alc. exp.) J No sentinel physical findings or CNS abnormalities (alc. exp.)

Eight 4-Digit Diagnoses that Roughly Coincide with CDC / IOM Diagnoses 4 –Digit CodeCDC / IOM 1 FAS (alcohol exposed)FAS (alcohol exposed) 2 FAS (alcohol exposure unknown)FAS(alcohol exposure unknown) 3 Partial FAS (alcohol exposed) Partial FAS(alcohol exposed) 4 Sentinel Physical Findings / Static Encephalopathy(alcohol exposed)ARBD / Severe ARND(alcohol exposed) 5 Static Encephalopathy (alcohol exposed)Severe ARND(alcohol exposed) 6 Sentinel Physical Findings / Neurobehavioral Disorder (alcohol exposed)ARBD / Mild ARND(alcohol exposed) 7 Neurobehavioral Disorder (alcohol exposed)Mild ARND(alcohol exposed) 8 Sentinel Physical Findings (alcohol exposed)ARBD(alcohol exposed) Sentinel physical findings = Growth deficiency and / or some, but not all of the 3 FAS facial features. Static encephalopathy = Structural, Neurological and / or Severe Functional Impairment ( 3 domains 2 or more SDs below the mean ). Neurobehavioral Disorder = Evidence of Mild CNS Functional Impairment or Delay.

Key Contrasts between 4-Digit Code and CDC Guidelines 4-Digit CodeCDC Diagnosis Full Spectrum, FASD FAS only Published1997, 1999, FAS Criteria Growth< 10 th %< 10 th % FacePFL < 3%PFL < 10%Philtrum (Rank 4 or 5)Lip (Rank 4 or 5) CNSOFC < 3 %OFC < 10 %Abnormal MRINeurological abnormality Dysfunction: 3 domains < -2 SDDysfunction: 3 domains < -1 SD global delay (IQ < 70)global delay (IQ < 70) AlcoholConfirmed or unknown Confirmed or unknown

Key Contrasts between 4-Digit Code and other Guidelines The 4-Digit Code does NOT use the term ARND (Alcohol Related Neurodev. Disorder) Why not? When a child presents in clinic with prenatal alcohol exposure, a low IQ, poor memory, ADHD, and NO FAS facial features, a physician has no ability to CONFIRM the alcohol caused the child’s cognitive / behavioral problems. These cognitive/behavioral outcomes are not specific to (caused only by ) prenatal alcohol exposure. Thus, it is not medically valid to call them Alcohol- Related outcomes. Typically children present with a number of risk factors that may have contributed to their cognitive / behavioral problems, including: Alcohol, cocaine, poor prenatal care, family history of cognitive/mental health problems, early neglect, physical/sexual abuse, multiple foster placements, etc, etc. All of these are documented and coded in the 4-Digit Code. The term ARND presents with all the same limitations as the term FAE. The term FAE is no longer used per the recommendation of Aase, Jones and Clarren (1995).

Key Contrasts between 4-Digit Code and other Guidelines Why Aase, Jones and Clarren recommended we stop using the term FAE. (Taken directly from Aase et al., Pediatrics, 1995; 95(3): ) Presupposition that alcohol is the major (or only) cause of the child’s problems may end the search for other possible causes such as psychosocial deprivation and abuse; Educators and care providers may base their expectations for the child’s performance on that of children with FAS; Women are stigmatized for having damaged their children by drinking during pregnancy when it is by no means certain that they have done so; Efforts to learn the real magnitude of the problem of prenatal alcohol damage are frustrated by over-diagnosis.

Key Contrasts between 4-Digit Code and other Guidelines What Diagnostic Terms does the 4-Digit Code use in place of ARND? The more severe end of the ARND spectrum is called Static Encephalopathy / Alcohol Exposed. The milder end of the ARND spectrum is called Neurobehavioral Disorder / Alcohol Exposed. Rather than imply the outcomes are caused by the alcohol with terminology like Alcohol- Related Neurodevelopmental Disorder or Fetal Alcohol Effect, the 4-Digit Code simply reports the presence of the outcomes / exposures without implying causality. One need not link the outcome to the exposure to provide a diagnosis or an appropriate intervention. It is important, however, to report that an individual was exposed to alcohol, because alcohol is a teratogen that can cause brain damage. Knowledge of exposure will alert interventionists that some of the child’s cognitive/behavioral problems may be due to underlying brain damage. This knowledge will help guide their intervention efforts.

The FAS DPN defines the FAS Face as follows: 1)PFL 2 or more standard deviations below the mean (or < 3rd percentile) 2)Lip Thinness: Rank 4 or 5 3)Philtrum Smoothness: Rank 4 or 5 Some Guidelines have relaxed the PFL to < 10 th percentile and reduced the number of features to any 2 of these 3. Key Contrasts between 4-Digit Code and other Guidelines Palpebral fissure length = endoncanthion to exocanthion FAS

Why does the 4-Digit Code define the FAS face as PFL < 2 SD, Lip and Philtrum Rank 4 or 5? FAS DPN scientific, published studies established these cutoffs. These features are evidence-based. These studies identified the same 3 features published by David Smith MD in (criterion validity) These 3 features are linearly correlated with underlying brain damage (construct validity). This face is so unique to FAS, (Sensitivity, Specificity, PV + and PV- are 98% to100%) it serves as a highly effective population-based FAS screening/surveillance tool in WA. If the features are relaxed, the face cannot be used for screening / surveillance. Note: other Guidelines have not reported the sensitivity, specificity, PV+ and PV- of their facial criteria. This 4-Digit FAS face is so specific to FAS, it can be used as a proxy measure of prenatal alcohol exposure, allowing one to render a diagnosis of FAS when exposure is unknown. When the features are relaxed, the face is no longer specific to FAS and rendering a diagnosis of FAS with unknown alcohol exposure would be medically invalid. A PFL at the 10 th percentile is by definition, within the normal curve, thus it is not an “anomaly”. Relaxing the PFL into the normal range essentially reduces the FAS face to 2 anomalies, not three. Some guidelines were compelled to relax the PFL to the 10%, not realizing the FAS DPN already relaxed the PFL to -2 SDs (or 3%). Note, the mean PFL in the WA State FAS DPN clinics is 4.2 SDs below the mean, not just 2 SDs below the mean, as published by the IOM. The normal PFL charts available to clinicians are confirmed to be inaccurate. Relaxing the PFL to the 10 th percentile magnifies this error. Key Contrasts between 4-Digit Code and other Guidelines

Why does the 4-Digit Code use OFC at the 3% rather than the 10%? The medical definition of microcephaly is < 3%. A head circumference at the 10 th percentile, is by definition, within the normal curve. A head circumference < 3% is by definition, significantly below the normal curve. Most Guidelines, including the 4-Digit Code, allow a single structural anomaly to serve as sufficient “evidence” of underlying brain damage for a diagnosis of FAS. But head circumference is not a strong predictor of brain dysfunction when head circumference is in the normal range ( Dolk, 1991). Head CircumferencePrevalence of Mental Retardation Normal Range 5 % -2 SD14 % -3 SD53 % According to the CDC Guidelines, the following child would meet the criteria for FAS. Growth10% FaceEyes 10%, Somewhat thin Lip, Somewhat smooth Philtrum (Rank 4) CNSOFC 10% with normal brain function AlcoholUnknown Children with FAS who present with an OFC in the normal range (10%) and have no CNS dysfunction will fail to qualify for services in schools. Key Contrasts between 4-Digit Code and other Guidelines

4-Digit Ranking of CNS Damage/Dysfunction 4-Digit Rank Probability of CNS Damage Confirmatory Findings 4 Definite Static Encephalopathy Microcephaly OFC < - 2 SD and / or Significant abnormalities in brain structure of presumed prenatal origin and / or Evidence of hard neurological findings likely to be of prenatal origin 3 Probable Static Encephalopathy Significant impairment in three or more domains of brain function such as, but not limited to: cognition, achievement, memory, executive function, motor, language, attention, activity level, neurological ‘soft’ signs 2 Possible Neurobehavioral Disorder Evidence of delay or dysfunction that suggest the possibility of CNS damage, but data to this point do not permit a Rank 3 classification. 1Unlikely No current evidence of delay or dysfunction likely to reflect CNS damage

4-Digit Rank for Prenatal Alcohol Exposure 4-Digit RankDefinition 4 Confirmed exposure to high levels. 3 Confirmed exposure, but level is unknown or less than Rank 4 2 Unknown exposure 1 Confirmed absence of exposure from conception to birth.

4-Digit Rank for Other Prenatal Risk Factors Rank 4 - High Risk Alternate genetic conditions or exposures to other known teratogens (e.g., dilantin) Rank 3 - Some Risk Poor prenatal care, other drug exposures, familial traits like MR, etc. Rank 2 - Unknown Risk Rank 1 - No Known Risk Note: Alcohol is a teratogen regardless of the presence of other risk factors. Presence of another syndrome does not rule-out FAS(D). We have observed a child with both FAS and Down Syndrome. Both facial phenotypes were distinctly present and growth was below the 3% on a Down Syndrome Growth Chart.

Rank 4 - High Risk Physical / sexual abuse, severe neglect, multiple placements, serious head injury, medical conditions leading to brain injury. Rank 3 - Some Risk Conditions like Rank 4, but less severe and less likely to be a definite factor in patient’s present condition Rank 2 - Unknown Risk Rank 1 - No Known Risk 4-Digit Rank for Other Postnatal Risk Factors

If the term FAE is not a medically valid diagnostic term, why would ARND / ARBD be valid terms? Relaxation of FAS diagnostic criteria will result in children being incorrectly diagnosed with FAS. Not only will children be misdiagnosed, but their birth mothers will be wrongly accused of permanently damaging their children? Is this medically ethical / justifiable? When the FAS facial criteria are relaxed, the FAS phenotype is no longer specific to prenatal alcohol exposure. If the face is not specific to prenatal alcohol exposure, it cannot serve as a proxy measure of alcohol exposure. If the FAS facial criteria are relaxed, FAS cannot be diagnosed when alcohol exposure is unknown. If the OFC is relaxed to the 10 %, then, per Guidelines, children with normal brain function and OFC’s within the “normal range” will receive FAS diagnoses. This will diminish the integrity of the FAS diagnosis for families seeking educational support in schools. A child should qualify for services based on their impairment, not on what caused their impairment. U.S. FASD Diagnostic Guidelines should be derived from study samples representative of the U.S. population. New, accurate PFL charts need to be created by qualified professionals. Key Issues to Critically Assess