Fetal Alcohol Syndrome

Aka: Fetal Alcohol Syndrome, Fetal Alcohol Effect, Fetal Alcohol Spectrum Disorders, Partial Fetal Alcohol Syndrome, Alcohol-Related Neurodevelopmental Disorder, Alcohol-Related Birth Defect

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II. Definition

  1. Fetal Alcohol Spectrum Disorders (FASD)
    1. Includes all Fetal Alcohol Syndromes (e.g. FAS, PFAS)
  2. Fetal Alcohol Syndrome (FAS)
    1. Most severe form of Fetal Alcohol Spectrum Disorders
    2. Facial dysmorphology (2 or more features), growth deficiency, CNS dysfunction and neurobehavioral Impairment
  3. Fetal Alcohol Effect (FAE) or Partial Fetal Alcohol Syndrome (PFAS)
    1. Only part of FAS signs present
  4. Alcohol-Related Neurodevelopmental Disorder
    1. Prenatal Alcohol exposure AND neurobehavioral Impairment in at least 2 domains
    2. Other diagnostic criteria for Fetal Alcohol Syndrome are missing (e.g. facial anomalies)
  5. Alcohol-Related Birth Defect
    1. Prenatal Alcohol exposure AND at least one major malformation associated with prenatal Alcohol exposure

III. Epidemiology

  1. First described clinically in 1970s
  2. Mean age of diagnosis: 48.3 months
  3. Incidence
    1. Fetal Alcohol Syndrome (FAS): 0.3 to 0.8 per 1000 children in U.S. (2.9 per 1000 worldwide)
    2. Fetal Alcohol Spectrum Disorders (FASD): 33.5 per 1000 children in U.S. (22.8 per 1000 worldwide)
    3. FAS Children born to Alcoholic women: 1 in 10 births
    4. Roozen (2016) Alcohol Clin Exp Res 40(1): 18-32 [PubMed]
  4. Women who use Alcohol in known pregnancy (U.S., 2015)
    1. Use despite pregnancy diagnosis: 10.2% (increased from 7.6% in 2012)
    2. Binge drinking in pregnancy (>3 drinks/episode): 3.1% (increased from 1.4% in 2012)
    3. Tan (2012) MMWR Morb Mortal Wkly Rep 64(37): 1042-6 [PubMed]
  5. Race
    1. Least common in hispanic children
    2. Most common in Native American and Native Alaskan

IV. Pathophysiology

  1. Related to Maternal Alcohol intake during pregnancy
    1. No Alcohol amount is considered safe
    2. No time in pregnancy is considered safe
  2. Alcohol is the most common Teratogen in pregnancy
    1. Fetal Alcohol Spectrum Disorders (FASD) is most common nonheritable Intellectual Disability

V. History: Prenatal Alcohol Exposure

  1. Precautions
    1. History should be based on reliable source (e.g. family member, social services, medical record)
  2. General history
    1. Quantity of Alcohol intake per episode
    2. Frequency of Alcohol use
    3. Timing of Alcohol use during pregnancy
      1. Include 3 months before pregnancy recognized or before positive Pregnancy Test
  3. Prenatal Alcohol Exposure Criteria (at least one of the following present)
    1. Six or more drinks/week for 2 or more weeks during pregnancy
    2. Three or more drinks per occassion on 2 or more occassions during pregnancy
    3. Alcohol-related social or legal (e.g. DUI) problems around the time or pregnancy
    4. Intoxication during pregnancy (by Blood Alcohol Level, breathalizer or urine Alcohol level)
    5. Validated screening tool positive for increased prenatal risk associated with Alcohol
    6. Alcohol biomarker positive in pregnancy via maternal hair, Fingernails, urine or blood (or placenta, meconium)
      1. Fatty Acid ethyl esters
      2. Phosphotidylethanol
      3. Ethyl glucuronide
  4. References
    1. Hoyme (2016) Pediatrics 138(2): e20154256 [PubMed]

VI. Signs: General

  1. Hirsutism
  2. Cardiac defects
  3. Developmental Delay
  4. Mental Retardation
  5. Growth retardation
    1. Birthweight and length less than 5-10th percentile

VII. Signs: Facial

  1. General
    1. Microcephaly
    2. Flat Maxillary area or midface
  2. Ears
    1. Underdeveloped ear cartilage
    2. Railroad track ear
      1. Top curve of outer ear folds over
      2. Appears parallel to fold below it (parallel folds)
  3. Eyes
    1. Short Palpebral Fissure length (narrow eye slits)
      1. Reduced distance between inner canthus (medial) and outer canthus (lateral)
    2. Epicanthal folds
      1. Skin folds covering medial canthus (corner of eye)
  4. Nose
    1. Flat Nasal Bridge
    2. Nostrils directed forward (upturned nose)
    3. Short nose
    4. Philtrum (vertical groove between nose and upper lip)
      1. Flat or smooth appearance (normally indented)
  5. Lips (upper lip underdeveloped)
    1. Thin vermilion border of upper lip
      1. Use Lip-philtrum scoring guide (0-5) with scores of 4-5 meeting criteria for FAS, PFAS

VIII. Signs: Hand

  1. Clinodactyly of fifth finger (curved toward 4th)
  2. Camptodactyly (fixed flexion deformity at proximal interphalangeal joints)
  3. Upper palmar crease with hockey stick appearance
    1. Widens and ends between 2nd and third fingers

IX. Differential Diagnosis

  1. Chromosomal abnormalities and other hereditary conditions
    1. Aarskog Syndrome
    2. Bloom Syndrome
    3. Cornelia de Lange Syndrome (Brachmann de Lange Syndrome)
    4. Dubowitz Syndrome
    5. Noonan Syndrome
    6. Velocardiofacial Syndrome
    7. Williams Syndrome
  2. Teratogen Exposure
    1. Fetal Hydantoin Syndrome (prenatal Phenytoin exposure)
    2. Fetal Valproate syndrome
    3. Phenylalanine Embryopathy (maternal Phenylketonuria)
    4. Toluene Embryopathy

X. Evaluation: Screening Indications for Fetal Alcohol Spectrum Disorder (FASD)

  1. Prenatal Alcohol exposure criteria met (see above)
    1. Confirmed Alcohol use is not required for FAS or PFAS diagnosis if pathognomonic features are present
    2. Otherwise, absent prenatal Alcohol exposure (by criteria above) excludes Fetal Alcohol Spectrum Disorders
  2. Growth retardation
    1. Height and weight at 10th percentile or less
  3. Facial Dysmorphology (see above)
  4. CNS dysfunction
    1. Deficient brain growth (e.g. Head Circumference at 10th percentile or less)
    2. Recurrent idiopathic, nonfebrile Seizures
    3. Abnormal neurophysiology
    4. Head imaging with structural brain abnormalities
      1. Temporal Lobe asymmetry
      2. Altered size or shape in corpus callosum, Cerebellum or Basal Ganglia
  5. Neurobehavioral disorders
    1. Standardized tests (after age 3 years) with scores 1.5 S.D. below mean or more
    2. Global intellectual ability and cognition deficits
    3. Poor behavior, self-regulation and adaptive skills

XI. Associated Conditions

  1. Eye
    1. Ptosis
    2. Retinal malformation
    3. Strabismus
    4. Decreased Vision
  2. Ear
    1. Chronic Serous Otitis Media (with Conductive Hearing Loss)
    2. Neurosensory Hearing Loss
  3. Orofacial
    1. See facial anomalies as above
    2. Cleft Lip
    3. Cleft Palate
  4. Cardiovascular
    1. Aberrant Great Vessels
    2. Atrial Septal Defect
    3. Ventricular Septal Defect
  5. Gastrointestinal
    1. Enteric Neuropathy
  6. Musculoskeletal
    1. See hand abnormalities as above
    2. Camptodactyly (fixed flexion deformity at proximal interphalangeal joints)
    3. Clinodactyly (curved 5th finger)
    4. Hypoplastic nails
    5. Radioulnar synostosis
    6. Scoliosis
    7. Spinal malformation
  7. Neurologic
    1. Microcephaly
    2. Seizure Disorder
    3. Spinal cord abnormality
    4. Structural brain abnormality (corpus callosum, Cerebellum, caudate, Hippocampus)
  8. Neurobehavioral and psychiatric disorders
    1. Attention Deficit Disorder (>40% of FASD children)
    2. Conduct Disorder
    3. Oppositional Defiant Disorder (38%)
    4. Substance Use Disorder
    5. Intellectual Disability
    6. Language disorder
    7. Learning Disability
    8. Mood Disorder (50% of FASD children)
  9. Renal
    1. Aplastic, dysplastic or hypoplastic Kidneys
    2. Horseshoe Kidney
    3. Hydronephrosis
    4. Ureteral duplications

XII. Management

  1. Referral to multidisciplinary team
  2. Focus areas of management
    1. Medical home
    2. Family support
      1. Physical abuse and sexual abuse are common (61% have experienced or witnessed by age 12 years)
      2. Stable home environments are associated with better outcomes
    3. Manage comorbidities
    4. Nutritional Support
      1. Monitor height, weight and Body Mass Index
      2. Malnutrition is common
      3. Nutritional deficiencies in Vitamin D, Vitamin E, Vitamin K and Calcium
    5. Manage behavioral and emotional problems
      1. Attention Deficit Disorder
      2. Mood Disorder
      3. Oppositional Defiant Disorder
    6. Skill development (habilitative therapy)
  3. Early diagnosis has distinct advantages
    1. Significantly better outcomes with management
    2. Children under age 3 receive broader services
      1. Individuals with Disabilities Education Act, Part C
  4. Nutritional Support

XIII. Resources

  1. Fetal Alcohol Syndrome Family Resource Institute
    1. http://www.accessone.com/~delindam/
  2. Fetal Alcohol Syndrome Diagnostic, Prevention Network
    1. http://depts.washington.edu/fasdpn
  3. National Center Birth Defects, Developmental Disability
    1. http://www.cdc.gov/ncbddd/fas
  4. National Organization on Fetal Alcohol Syndrome
    1. http://www.nofas.org/
  5. Substance Abuse and Mental Health Services Admin
    1. http://fascenter.samhsa.gov

XIV. Prevention

  1. Offer Contraception to women who drink Alcohol (to prevent use prior to recognizing pregnancy)
  2. Continue to educate women that no level of Alcohol is safe in pregnancy at any time

XV. References

  1. Denny (2017) Am Fam Physician 96(8): 515-22 [PubMed]
  2. Hoyme (2005) Pediatrics 115:39-47 [PubMed]
  3. Wattendorf (2005) Am Fam Physician 72:279-85 [PubMed]

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