fetal alcohol syndrome

Fetal alcohol syndrome (FAS) is a term applied to pattern of abnormalities in children of alcoholic mothers. It was first described in the early 1970's by doctors Jones and Smith.

FAS is one of chief causes of mental retardation, birth defects, and severe behavioral problems in childhood. Estimates have placed the percentage of children in special education programs whose problems relate at least partially to direct or indirect alcohol effects at one third or more.

Because FAS is often missed but can be greatly helped by early intervention, identification is important. Once identified, prompt intervention for specific medical and psychosocial problems is imperative.

The syndrome or pattern includes:

  • maternal alcohol use
  • physical abnormalities
    • discriminating facial features (illustration)
      • small eyes (short palpebral fissures)
      • smooth, indistinct philtrum (the central groove between nose and upper lip)
      • thin upper lip
      • flat midface
      • short nose
    • other associated facial features
      • short upturned nose
      • epicanthal skin folds
      • eyelid droop (ptosis)
      • highly arched eyebrows ("clown eyebrows")
      • short jaw (micrognathia)
      • minor ear abnormalities
    • eye abnormalities
    • limb abnormalities
    • heart defects
    • cleft lip and palate
    • urinary tract defects
  • growth deficiency - thin, short, often with small head size (microcephaly)
  • neurologic problems
    • seizures
    • abnormal cognitive/behavioral function, such as
      • difficulty structuring work time
      • slow learning rate
      • poor memory
      • trouble generalizing
      • impulsivity
      • reduced attention span
      • fearlessness, ignoring verbal cautions
      • poor social judgement
      • inability to handle money age-appropriately
      • better expressive language than comprehension
      • poor problem solving

While full-blown FAS is easier to diagnose, the condition represents a spectrum of involvement from mild to severe, and thus many cases are missed. Since affected children can be helped with interventions aimed at their specific problems, this is unfortunate.

Children with FAS may appear perfectly normal at birth. By a month or two, physical appearance may be easier to recognize. By age three, neurologic and behavioral problems will be evident. More rarely, features of FAS may not become obvious until age 4 or later. Facial anomalies may disappear at puberty, making diagnosis more difficult after that time.

Children suspected of FAS should be fully evaluated by a pediatrician with special skills and interest in developmental and psychosocial medicine or pediatric neurologist. Once identified, the child should be referred for early intervention services, which are often primarily provided through the school system (under the Individuals with Disabilities Education Act). Children are generally eligible for such services through the school system after the third birthday, so parents do not have to wait for help for their child, and indeed should not wait. Early and thorough intervention does seem to greatly lessen the ultimate effects of intrauterine exposure to alcohol.

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