TABLE 1

Updated Criteria for the Diagnosis of FASD

Diagnostic Categories
(See Table 2 for definition of documented prenatal alcohol exposure)
I. FAS
(With or without documented prenatal alcohol exposure)
A diagnosis of FAS requires all features, A–D:
 A. A characteristic pattern of minor facial anomalies, including ≥2 of the following:
  1. Short palpebral fissures (≤10th centile)
  2. Thin vermilion border of the upper lip (rank 4 or 5 on a racially normed lip/philtrum guide, if available)
  3. Smooth philtrum (rank 4 or 5 on a racially normed lip/philtrum guide, if available)
 B. Prenatal and/or postnatal growth deficiency
  1. Height and/or weight ≤10th centile (plotted on a racially or ethnically appropriate growth curve, if available)
 C. Deficient brain growth, abnormal morphogenesis, or abnormal neurophysiology, including ≥1 of the following:
  1. Head circumference ≤10th percentile
  2. Structural brain anomalies
  3. Recurrent nonfebrile seizures (other causes of seizures having been ruled out)
 D. Neurobehavioral impairmenta
  1. For children ≥3 y of age (a or b):
   a. WITH COGNITIVE IMPAIRMENT:
 −Evidence of global impairment (general conceptual ability ≥1.5 SD below the mean, or performance IQ or verbal IQ or spatial IQ ≥1.5 SD below the mean)
 OR
 −Cognitive deficit in at least 1 neurobehavioral domain ≥1.5 SD below the mean (executive functioning, specific learning impairment, memory impairment or visual-spatial impairment)
   b. WITH BEHAVIORAL IMPAIRMENT WITHOUT COGNITIVE IMPAIRMENT:
 −Evidence of behavioral deficit in at least 1 domain ≥1.5 SD below the mean in impairments of self-regulation (mood or behavioral regulation impairment, attention deficit, or impulse control)
  2. For children <3 y of age:
 −Evidence of developmental delay ≥1.5 SD below the mean
II. PFAS
-For children with documented prenatal alcohol exposure, a diagnosis of PFAS requires features A and B:
 A. A characteristic pattern of minor facial anomalies, including ≥2 of the following:
  1. Short palpebral fissures (≤10th centile)
  2. Thin vermilion border of the upper lip (rank 4 or 5 on a racially normed lip/philtrum guide, if available)
  3. Smooth philtrum (rank 4 or 5 on a racially normed lip/philtrum guide, if available)
 B. Neurobehavioral impairmenta
  1. For children ≥3 y of age (a or b):
   a. WITH COGNITIVE IMPAIRMENT:
 −Evidence of global impairment (general conceptual ability ≥1.5 SD below the mean, or performance IQ or verbal IQ or spatial IQ ≥1.5 SD below the mean)
 OR
 −Cognitive deficit in at least 1 neurobehavioral domain ≥1.5 SD below the mean (executive functioning, specific learning impairment, memory impairment or visual-spatial impairment)
   b. WITH BEHAVIORAL IMPAIRMENT WITHOUT COGNITIVE IMPAIRMENT:
 −Evidence of behavioral deficit in at least 1 domain ≥1.5 SD below the mean in impairments of self-regulation (mood or behavioral regulation impairment, attention deficit, or impulse control)
  2. For children <3 y of age:
 −Evidence of developmental delay ≥1.5 SD below the mean
-For children without documented prenatal alcohol exposure, a diagnosis of PFAS requires all features, A–C:
 A. A characteristic pattern of minor facial anomalies, including ≥2 of the following:
  1. Short palpebral fissures (≤10th centile)
  2. Thin vermilion border of the upper lip (rank 4 or 5 on a racially normed lip/philtrum guide, if available)
  3. Smooth philtrum (rank 4 or 5 on a racially normed lip/philtrum guide, if available)
 B. Growth deficiency or deficient brain growth, abnormal morphogenesis, or abnormal neurophysiology
  1. Height and/or weight ≤10th centile (plotted on a racially or ethnically appropriate growth curve, if available), or:
  2. Deficient brain growth, abnormal morphogenesis or neurophysiology, including ≥1 of the following:
   a. Head circumference ≤10th percentile
   b. Structural brain anomalies
   c. Recurrent nonfebrile seizures (other causes of seizures having been ruled out)
 C. Neurobehavioral impairmenta
  1. For children ≥3 y of age (a or b):
   a. WITH COGNITIVE IMPAIRMENT:
 −Evidence of global impairment (general conceptual ability ≥1.5 SD below the mean, or performance IQ or verbal IQ or spatial IQ ≥1.5 SD below the mean)
 OR
 −Cognitive deficit in at least 1 neurobehavioral domain ≥1.5 SD below the mean (executive functioning, specific learning impairment, memory impairment, or visual-spatial impairment)
   b. WITH BEHAVIORAL IMPAIRMENT WITHOUT COGNITIVE IMPAIRMENT:
 −Evidence of behavioral deficit in at least 1 domain ≥1.5 SD below the mean in impairments of self-regulation (mood or behavioral regulation impairment, attention deficit, or impulse control)
  2. For children <3 y of age:
 −Evidence of developmental delay ≥1.5 SD below the mean
III. ARND
Requires features A and B (this diagnosis cannot be made definitively in children <3 y of age):
 A. Documented prenatal alcohol exposure
 B. Neurobehavioral impairmenta
For children ≥3 y of age (a or b):
  a. WITH COGNITIVE IMPAIRMENT:
 −Evidence of global impairment (general conceptual ability ≥1.5 SD below the mean, or performance IQ or verbal IQ or spatial IQ ≥1.5 SD)
 OR
 −Cognitive deficit in at least 2 neurobehavioral domains ≥1.5 SD below the mean (executive functioning, specific learning impairment, memory impairment or visual-spatial impairment)
  b. WITH BEHAVIORAL IMPAIRMENT WITHOUT COGNITIVE IMPAIRMENT:
 −Evidence of behavioral deficit in at least 2 domains ≥1.5 SD below the mean in impairments of self-regulation (mood or behavioral regulation impairment, attention deficit, or impulse control)
IV. ARBD
Requires features A and B:
 A. Documented prenatal alcohol exposure
 B. One or more specific major malformations demonstrated in animal models and human studies to be the result of prenatal alcohol exposure: cardiac: atrial septal defects, aberrant great vessels, ventricular septal defects, conotruncal heart defects; skeletal: radioulnar synostosis, vertebral segmentation defects, large joint contractures, scoliosis; renal: aplastic/hypoplastic/dysplastic kidneys, “horseshoe” kidneys/ureteral duplications; eyes: strabismus, ptosis, retinal vascular anomalies, optic nerve hypoplasia; ears: conductive hearing loss, neurosensory hearing loss
  • Diagnostic Caveats: The assignment of an FASD is a complex medical diagnostic process best accomplished through a multidisciplinary approach. As is the case with many medical conditions, sound clinical judgment must be used. Differential diagnoses should always include genetic disorders or conditions arising from other teratogens. Additionally, because head circumference, growth, and many cognitive and behavioral characteristics have moderate to high degrees of heritability, when information is available about the biological parents, these data should be considered in the final diagnostic decision.

  • a Adaptive skills should be assessed, but such deficits cannot stand alone for diagnosis.