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Fetal Alcohol Syndrome

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Topic updated on 09/13/17 11:39am

Snapshot
  • A 2-year-old infant, born to a 22-year-old mother with a history of substance abuse, is brought to the pediatrician. Physical exam reveals short palpebral fissures, epicanthal folds, a thin upper lip, and developmental delay.
Introduction

  • Syndrome of physical and mental developmental delays and/or deficits that may results secondary to alcohol consumption during pregnancy
  • Alcohol is the most common teratogen that a fetus may be exposed to in utero
    • although more subtle symptoms occur with decreased consumption
    • there has been no safe level of alcohol consumption established during pregnancy
  • Most harmful during the first trimester, though there is no safe timing for alcohol consumption during pregnancy
    • responsible for 1 in 6 cases of cerebral palsy
    • full FAS occurs after about 4-6 drinks per day
Presentation
  • Symptoms
    • physical and mental disability
    • decreased muscle tone
    • poor motor coordination
    • classic facial deformities
  • Physical exam
    • short palpebral fissures
    • epicanthal folds
    • thin upper lip with smooth groove
    • developmental delay
    • microcephaly
    • micrognathia
    • heart murmur may be evident
      • usually indicative of ASD/VSD
Evaluation
  • Diagnosis based primarily on clinical observations and substance abuse history of mother
  • Blool alcohol level
    • may be used if mother is suspected of intoxication
  • Brain imaging
    • CT/MRI may be helpful in identifying poor development
  • Pregnancy ultrasound
    • sometimes identifies restricted growth and/or classic facial anomalies of FAS
Differential
  •  Other teratogen exposure; intrauterine trauma, cerebral palsy without FAS
Treatment
  • Medical management
    • education/social support of at-risk mothers
      • ad campaigns and public health initiatives have been designed to address these issues, however, more work is needed
      • social support system for pregnant mother suffering from alcohol abuse is critical
Prognosis, Prevention, and Complications
  • Prognosis
    • outcomes range widely, but most infants born with FAS show mental disability
  • Prevention
    • education and outreach programs to inform and prevent mothers from exposure to alcohol during pregnancy are critical for prevention
  • Complications
    • cardiac involvement, permanent mental and physical disability, social issues related to facial anomalies
      • cardiac defects may include ventricular septal defect and atrial septal defect are common


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