Comparison of Current FASD Diagnostic Systems

Center for Substance Abuse Prevention (US)

Appendix EComparison of Current FASD Diagnostic Systems

Fetal Alcohol Syndrome (FAS) is a permanent birth defect syndrome caused by maternal consumption of alcohol during pregnancy. Almost four decades have passed since the term FAS was first coined. The condition is now recognized as a spectrum of disorders: Fetal Alcohol Spectrum Disorders (FASD). Substantial progress has been made in developing specific criteria for delineating diagnoses under the umbrella of FASD. In the 14 years since the publication of the seminal report on FAS by the Institute of Medicine in 1996, clear consensus has been reached on two fundamental issues: 1) an FASD diagnostic evaluation is best conducted by a team of professionals from multiple disciplines (medicine, psychology, speech-language, occupational therapy) and 2) the team should use rigorously case-defined and validated FASD diagnostic guidelines.

In 2011, Dr. Susan Astley wrote a chapter on Diagnosing FASD in a book entitled Prenatal Alcohol Use and Fetal Alcohol Spectrum Disorders: Diagnosis, Assessment and New Directions in Research and Multimodal Treatment (Astley, 2011). This chapter provided a brief overview of the discovery of FASD, diagnostic challenges, how diagnostic guidelines and clinical models have evolved over time to address these challenges, and how new technology may influence the future of FASD diagnosis. The tables below come from that chapter, and provide a side-by-side comparison of the five most commonly used diagnostic guidelines for forms of FASD; the 4-Digit Diagnostic Code (Astley, 2004b), the guidelines developed by the Centers for Disease Control and Prevention (Bertrand et al., 2004), the Canadian guidelines (Chudley et al., 2005), the revised guidelines of the Institute of Medicine (IOM) (Hoyme et al., 2005), and the original IOM guidelines (Stratton et al., 1996). Table 1 compares diagnostic criteria for FAS; Table 2, pFAS; Table 3, ARND; and Table 4, ARBD. These tables are reprinted here with the permission of the author.

Table 1

FAS Diagnostic Criteria: Comparison Across the Five Most Current FASD Diagnostic Guidelines.

Table 2

Partial FAS Diagnostic Criteria: Comparison Across the Five Most Current FASD Diagnostic Guidelines.

Table 3

ARND (or its equivalent: Static Encephalopathy/Alcohol Exposed or Neurobehavioral Disorder/Alcohol Exposed) Diagnostic Criteria: Comparison Across the Five Most Current FASD Diagnostic Guidelines.

Table 4

ARBD Diagnostic Criteria: Comparison Across the Five Most Current FASD Diagnostic Guidelines.

It is important to note that, for the purposes of this Appendix, the 4-Digit Diagnostic Code has been translated, as best as possible, into a text (rather than numeric) format. This was done to facilitate comparison to the other guidelines that publish their diagnostic criteria in text format. Diagnostic teams should not use the textual translations of the 4-Digit Code presented in Tables 1-4 to derive a 4-Digit Code, but rather the numeric format presented in the Diagnostic Guide for Fetal Alcohol Spectrum Disorders: The 4-Digit Diagnostic Code, Third Edition (Astley, 2004a).

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Substance Abuse and Mental Health Services Administration (US), Rockville (MD)

NLM Citation

Center for Substance Abuse Prevention (US). Addressing Fetal Alcohol Spectrum Disorders (FASD). Rockville (MD): Substance Abuse and Mental Health Services Administration (US); 2014. (Treatment Improvement Protocol (TIP) Series, No. 58.) Appendix E, Comparison of Current FASD Diagnostic Systems.

Table 1FAS Diagnostic Criteria: Comparison Across the Five Most Current FASD Diagnostic Guidelines

	4-Digit Code (2004)	CDC (2004)	Canadian (2005)	Revised IOM (2005)	IOM (1996)
Growth	Prenatal and/or postnatal height or weight < 10th percentile (Growth Ranks 2-4)	Prenatal and/or postnatal height or weight < 10th percentile	At least 1 of the following: Prenatal and/or postnatal height or weight < 10th percentile Weight-to-height ratio (<10th percentile)	Prenatal and/or postnatal height or weight < 10th percentile	At least 1 of the following: Low birth weight Low weight for height Decelerating weight
Face	All 3 of the following at any age: PFL < 3rd percentile Smooth philtrum Rank 4 or 5 Thin upper lip Rank 4 or 5 (Face Rank 4)	All 3 of the following: PFL< 10th percentile Smooth philtrum Rank 4 or 5 Thin upper lip Rank 4 or 5	All 3 of the following at any age: PFL < 3rd percentile Smooth philtrum Rank 4 or 5 Thin upper lip Rank 4 or 5	2 or more of the following: PFL< 10th percentile Smooth philtrum Rank 4 or 5 Thin upper lip Rank 4 or 5	Characteristic pattern that includes features such as short PFL, flat upper lip, flattened philtrum, and flat midface.
CNS	At least 1 of the following: Structural/Neurological: (e.g., OFC <3rd percentile, abnormal structure, seizure disorder, hard signs) Severe Dysfunction: (3 or more domainsa of function with impairment 2 or more SDs below the mean) (CNS Rank 3 and/or 4)	At least 1 of the following: Structural/Neurological: (e.g., OFC < 10th percentile, abnormal structure, seizure disorder, hard/soft signs) Dysfunction^b: 3 or more domains of function with impairment 1 or more SDs below the mean Global deficit (2 or more SDs below the mean)	At least 3 of the following Structure/Neurological/Functional domains with impairment^c: Hard/soft signs, structure, cognition, communication, academic achievement, memory, executive functioning, abstract reasoning, ADD, adaptive behavior, social skills, or communication	At least 1 of the following: Structural OFC< 10th percentile Abnormal structure	At least 1 of the following: Structural/Neurological: Decreased cranial size at birth Abnormal structure (e.g., microcephaly, partial/complete agenesis of the corpus callosum, cerebellar hypoplasia) Neurological hard/soft signs
Alcohol	Confirmed or Unknown (Alcohol Ranks 2, 3 or 4)	Confirmed or Unknown	Confirmed or Unknown	Confirmed-excessive or Unknown	Confirmed-excessive or Unknown

a: 4-Digit Code: Domains may include, but are not limited to: executive function, memory, cognition, social/adaptive skills, academic achievement, language, motor, attention, or activity level.

b: CDC: Performance substantially below that expected for an individual's age, schooling, or circumstances, as evidenced by: 1) Global cognitive or intellectual deficits representing multiple domains of deficit (or significant developmental delay in younger children) with performance below the 3rd percentile (2 standard deviations below the mean for standardized testing) or 2) Functional deficits below the 16th percentile (1 standard deviation below the mean for standardized testing) in at least three of the following domains: a) cognitive or developmental deficits or discrepancies b) executive functioning deficits c) motor functioning delays d) problems with attention or hyperactivity e) social skills f) other, such as sensory problems, pragmatic language problems, memory deficits, etc.

c: Canadian: Impairment indicates scores ≥ 2 SDs below the mean, discrepancies of 1.5-2 SDs among subtests, or ≥ 1 SD discrepancy between subdomains.

Table 2Partial FAS Diagnostic Criteria: Comparison Across the Five Most Current FASD Diagnostic Guidelines

	4-Digit Code (1997-2004)	CDC^a (2004)	Canadian (2005)	Revised IOM (2005)	IOM (1996)
Growth	Prenatal or postnatal height or weight < 10th percentile (Growth Ranks 1-4)	--	No growth deficiency	Prenatal and/or postnatal height or weight < 10th percentile	At least 1 of the following: Low birth weight Low weight for height Decelerating weight
Face	All 3 of the following at any age: PFL < 3rd percentile Smooth philtrum Rank 4 or 5 Thin upper lip Rank 4 or 5 (Face Ranks 3 or 4)*	--	2 of the following at any age: PFL < 3rd percentile Smooth philtrum Rank 4 or 5 Thin upper lip Rank 4 or 5	2 or more of the following: PFL< 10th percentile Smooth philtrum Rank 4 or 5 Thin upper lip Rank 4 or 5	Some components of the pattern of FAS characteristic facial anomalies.
CNS	At least 1 of the following: Structural/Neurological: (e.g., OFC < 3rd percentile, abnormal structure, seizure disorder, hard signs) Severe Dysfunction: (3 or more domains^b of function with impairment 2 or more SDs below the mean) (CNS Rank 3 and/or 4)	--	At least 3 of the following Structure/Neurological/Functional domains with significant impairment^c: Hard/soft signs, structure, cognition, communication, academic achievement, memory, executive functioning, abstract reasoning, ADD, adaptive behavior, social skills, or communication	At least 1 of the following: Structural OFC < 10th percentile Abnormal structure Dysfunction Complex pattern^d of behavior/cognitive abnormalities	At least 1 of the following: Structural/Neurological: Decreased cranial size at birth Abnormal structure Hard/soft signs Dysfunction Complex pattern^e of behavior/cognitive abnormalities
Additional Criteria	PFAS requires the CNS and Alcohol criteria to be met and allows either the Growth or the Face criteria to be relaxed just slightly. *lf the growth deficiency criteria above are met, one facial feature may be relaxed as follows: (PFL < 1 SD, or Philtrum Rank 3, or Lip Rank 3) or If the FAS face criteria are met, growth can be relaxed to normal	--	None	PFAS requires the Face and Alcohol criteria to be met and only one of the following additional criteria: Growth CNS Structural CNS dysfunction	PFAS requires the Face and Alcohol criteria to be met and only one of the following additional criteria: Growth CNS Structural/Neurological CNS dysfunction
Alcohol	Confirmed (Alcohol Ranks 3 or 4)	--	Confirmed	Confirmed-excessive or Unknown	Confirmed-excessive

a: The CDC Guidelines only address FAS.

b: 4-Digit Code: Domains may include, but are not limited to: executive function, memory, cognition, social/adaptive skills, academic achievement, language, motor, attention, or activity level.

c: Canadian: Impairment indicates scores ≥ 2 SDs below the mean, discrepancies of 1.5 to 2 SDs among subtests, or ≥ 1 SD discrepancy between subdomains.

d: Hoyme: Marked impairment in the performance of complex tasks (complex problem solving, planning, judgment, abstraction, metacognition, and arithmetic tasks); higher-level receptive and expressive language deficits; and disordered behavior (difficulties in personal manner, emotional lability, motor dysfunction, poor academic performance, and deficient social interaction).

e: IOM: Complex pattern of behavior or cognitive abnormalities that are inconsistent with developmental level and cannot be explained by familial background or environment alone: e.g., 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.

Table 3ARND (or its equivalent: Static Encephalopathy/Alcohol Exposed or Neurobehavioral Disorder/Alcohol Exposed) Diagnostic Criteria: Comparison Across the Five Most Current FASD Diagnostic Guidelines

	4-Digit Code (1997-2004)	CDC^a (2004)	Canadian (2005)	Revised IOM (2005)	IOM (1996)
Growth	Normal to deficient (Growth Ranks 1-4)	--	No growth deficiency	No growth deficiency	No growth deficiency
Face	No more than 1 of the following: PFL < 3rd percentile Philtrum Rank 4 or 5 Lip Rank 4 or 5 (Face Ranks 1-2)	--	No FAS facial phenotype	No FAS facial phenotype	Presumably no components of the pattern of FAS characteristic facial anomalies.
CNS	Criteria_ for “Static_ Encephalopathy” At least 1 of the following: Structural/Neurological: (e.g., OFC < 3rd percentile, abnormal structure, seizure disorder, hard signs) Severe Dysfunction: (3 or more domains^b of function with impairment 2 or more SDs below the mean) (CNS Rank 3 and/or 4) Criteria for_ “Neurobehavioral Disorder”^c No Structural/Neurological abnormalities. Moderate Dysfunction: 1-2 domains^b of function with impairment > 1.5 SDs below the mean)	--	At least 3 of the following Structure/Neurological/Functional domains with significant impairment^c: Hard/soft signs, structure, cognition, communication, academic achievement, memory, executive functioning, abstract reasoning, ADD, adaptive behavior, social skills, or communication	At least 1 of the following: Structural OFC< 10th percentile Abnormal structure Dysfunction Complex pattern^d of behavior/cognitive abnormalities	At least 1 of the following: Structural/Neurological: Decreased cranial size at birth Abnormal structure Hard/soft signs Dysfunction Complex pattern^e of behavior/cognitive abnormalities
Additional Criteria	The term ARND is not used. The following terms are used in lieu of ARND: Static Encephalopathy (Severe dysfunction) Neurobehavioral Disorder (Moderate dysfunction)	--	--	--	--
Alcohol	Confirmed (Alcohol Ranks 3 or 4)	--	Confirmed	Confirmed-excessive	Confirmed-excessive

a: The CDC Guidelines only address FAS.

b: 4-Digit Code: Domains may include, but are not limited to: executive function, memory, cognition, social/adaptive skills, academic achievement, language, motor, attention, or activity level. MRI research confirms Neurobehavioral Disorder/Alcohol Exposed is a distinct, clinically meaningful subclassification under the umbrella of FASD [6].

c: Canadian: Impairment indicates scores ≥ 2 SDs below the mean, discrepancies of 1.5-2 SDs among subtests, or ≥ 1 SD discrepancy between subdomains.

d: Hoyme: Marked impairment in the performance of complex tasks (complex problem solving, planning, judgment, abstraction, metacognition, and arithmetic tasks); higher-level receptive and expressive language deficits; and disordered behavior (difficulties in personal manner, emotional lability, motor dysfunction, poor academic performance, and deficient social interaction).

e: IOM: Complex pattern of behavior or cognitive abnormalities that are inconsistent with developmental level and cannot be explained by familial background or environment alone: e.g., 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.

Table 4ARBD Diagnostic Criteria: Comparison Across the Five Most Current FASD Diagnostic Guidelines

	4-Digit Code^a (1997-2004)	CDC^b (2004)	Canadian^a (2005)	Revised IOM (2005)	IOM (1996)
Growth	--	--	--	Not specified	Not specified
Face	--	--	--	2 or more of the following: PFL< 10th percentile Philtrum Rank 4 or 5 Lip Rank 4 or 5	Not specified
CNS	--	--	--	Not specified	Not specified
Congenital Defects	--	--	--	1 or more of the following: Cardiac: Atrial septal defects, Ventricular septal defects, Aberrant great vessels, Tetralogy of Fallot. Skeletal: Hypoplastic nails, Shortened fifth digits, Radioulnar synostosis, Flexion contractures, Camptodactyly, Clinodactyly, Pectus excavatum and carinatum, Klippel-Feil syndrome, Hemivertebrae, Scoliosis. Renal: Aplastic/dysplastic/hypoplastic kidneys, Horseshoe kidneys, Ureteral duplications, Hydronephrosis. Ocular: Strabismus, Retinal vascular anomalies, Refractive problems secondary to small globes. Auditory: Conductive hearing loss, Neurosensory hearing loss. Other: Virtually every malformation has been described in some patient with FAS. The etiologic specificity of most of these anomalies to alcohol teratogenesis remains uncertain	Congenital structural defects in 1 of the following categories, including malformations and dysplasias (if the patient displays minor anomalies only, 2 must be present): Cardiac: Atrial septal defects, Ventricular septal defects, Aberrant great vessels, conotruncal heart defects. Skeletal: Radioulnar synostosis, Vertebral segmentation defects, Large joint contractures, Scoliosis. Renal: Aplastic/dysplastic/hypoplastic kidneys, “Horseshoe” kidney/ureteral duplications. Eyes: Strabismus, Ptosis, Retinal vascular anomalies, Optic nerve hypoplasia. Ears: Conductive hearing loss, Neurosensory hearing loss. Minor Anomalies: Hypoplastic nails, Short fifth digits, Clinodactyly of fifth fingers, Pectus carinatum/excavatum, Camptodactyly, “Hockey stick” palmar creases, Refractive errors, “Railroad track” ears
Alcohol	--	--	--	Confirmed-excessive	Confirmed-excessive

a: The 4-Digit Code and Canadian Guidelines do not recognize ARBD as a FASD diagnostic classification.

b: The CDC Guidelines only address FAS.