Updated Diagnostic Guidelines for FASD

CoFASP Consensus Clinical Diagnostic Guidelines for FASD
Prenatal Alcohol ExposureFAS Facial FeaturesaGrowth RestrictionbDeficient Brain GrowthcNeurobehavioral Impairment (<3 y)dNeurobehavioral Impairment (>3 y)eStructural Birth Defectsf
 With confirmed or unconfirmed alcohol exposureXXXXX
 With confirmed alcohol exposureXXX
 With unconfirmed alcohol exposureXX (or deficient brain growth)X (or deficient height and/or weight)XX
 With confirmed alcohol exposureN/AX
 Alcohol-related birth defects
 With confirmed alcohol exposureX
  • Adapted from Hoyme HE, Kalberg WO, Elliott AJ, et al. Updated clinical guidelines for diagnosing fetal alcohol spectrum disorders. Pediatrics. 2016;138(2):e20154256. N/A, not applicable; X, required; —, not required.

  • a The characteristic pattern of facial anomalies is defined by the presence of ≥2 of the following: (1) short palpebral fissures (≤10th percentile), (2) thin vermilion border (rank of 4 or 5 on racially normed lip-philtrum guide), and (3) smooth philtrum (rank of 4 or 5 on racially normed lip-philtrum guide).

  • b Prenatal and/or postnatal growth deficiency: height and/or weight ≤10th percentile on sex-specific population-normed growth curves.

  • c Deficient brain growth, morphogenesis, and/or neurophysiology is characterized by ≥1 of the following: (1) OFC ≤10th percentile, (2) structural brain abnormalities, and (3) recurrent nonfebrile seizures.

  • d Affected children must display evidence of developmental delay ≥1.5 SD below the mean.

  • e Children should be assessed for global, cognitive, and behavioral deficits. Global impairment: general conceptual ability, performance IQ, visual IQ, or spatial IQ ≥1.5 SD below the mean; cognitive deficit: ≥1.5 SD below the mean in 1 domain (executive function, specific learning impairment, memory impairment, or visual spatial impairment); behavioral impairment without cognitive impairment: behavioral deficit in 1 domain ≥1.5 SD below the mean in areas of self-regulation (mood or behavioral regulation impairment, attention deficit, or impulse control).

  • f One or more major malformations demonstrated in animal models and human studies to be related to prenatal alcohol exposure, including cardiac defects (eg, atrial septal defects, ventricular septal defects, aberrant great vessels, conotruncal heart defects), musculoskeletal defects (eg, radioulnar synostosis, vertebral segmentation defects, large joint contractures, scoliosis), renal anomalies (eg, aplastic, hypoplastic, or dysplastic kidneys; “horseshoe” kidneys; ureteral duplications), eye anomalies (eg, strabismus, ptosis, retinal vascular anomalies, optic nerve hypoplasia), and/or hearing impairment (eg, conductive or neurosensory hearing loss).

  • g For ARND, 2 domains of impairment are required for either cognitive deficit without behavioral impairment or behavioral impairment without cognitive deficit.