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Fetal Alcohol Syndrome

Contracting[edit | edit source]

  • Establish rapport with small talk-acknowledge prior contact (Jane)
  • Assess the understanding for the referral to genetics
  • Assess the concerns of the family and what they hope to learn today
  • Ascertain the level of understanding of FAS for those members present
  • Discuss topics to be covered during the appointment- review medical/family history, physical exam

Elicit Medical History[edit | edit source]

Elicit Family History and Pedigree[edit | edit source]

  • Confirm family history taken by Jane- any updates?

Psychosocial Assessment[edit | edit source]

Definition[edit | edit source]

  • Fetal alcohol syndrome is a disorder characterized by abnormalities in physical and mental development as a result of prenatal alcohol exposure.

Etiology[edit | edit source]

  • Fetal alcohol syndrome (FAS) is caused by ethanol and/or its by-products
    • Ethanol is a teratogen that can cross the placenta and interrupt development during any stage of pregnancy.
    • Currently, it is not known whether alcohol is a mutagen affecting the ova or sperm prior to conception
  • Alcohol is now recognized as the most common major teratogen to which a fetus is liable to be exposed
  • 2 alcoholic drinks consumed per day by pregnant women have been shown to result in smaller birth size, while 4-6 drinks consumed per day show additional clinical features; both of the above can result in fetal alcohol effect (FAE)
  • FAE is a condition characterized by some, but not all, of the birth defects associated with FAS.
  • Most of the children believed to have FAS have been born to alcoholic women whose intake of alcohol was 8-10 or more drinks per day (Smith's pg. 555).
    • Although FAS is usually associated with exposure to large amounts of alcohol, this is not always the case.
    • The U.S. Surgeon General's conclusion that zero exposure to alcohol equals zero risk remains the only defensible true statement.

Incidence[edit | edit source]

  • An accurate incidence rate of FAS has not been established
  • One study suggests approximately 1-3:1,000 live births (Management Of Genetic Syndromes pg.151).

Timing[edit | edit source]

  • Alcohol exposure during the first trimester is associated with facial dysmorphology
  • Exposure during the second half of pregnancy is associated with growth deficiency
  • The brain appears to be uniquely vulnerable to alcohol
    • Variations in abnormalities are due to dose, frequency, timing of exposure and genetic factors of the mother and fetus.
    • The brain appears to be most vulnerable during the first trimester but can be affected throughout gestation.

Clinical Features[edit | edit source]

  • Pre- and postnatal onset growth deficiency
  • Craniofacial anomalies
    • Mild to moderate microcephaly
    • Short palpebral fissures, ptosis, epicanthal folds
    • Maxillary hypoplasia
    • Short nose
    • Smooth philtrum with thin and smooth upper lip
    • Malformations of the inner ear
  • Skeletal anomalies
    • Joint anomalies, abnormal position and/or function
    • Scoliosis
    • Altered palmer crease patterns
    • Small distal phalanges
    • Small fifth fingernails
    • Clinodactyly of the 4th and 5th fingers
  • Cardiac Anomalies
    • Heart murmur (usually disappears by age 1)
    • VSD- most common heart defect in children with FAS
  • Genitourinary
    • Renal anomalies are reported to occur at an increased frequency
    • Renal hypoplasia or hydronephrosis
  • Occasional abnormalities
    • Cleft lip with or without cleft palate
    • Micrognathia
    • Short or webbed neck
    • 10-20% have cervical vertebral malformations
    • Tetralogy of Fallot
    • Hydrocephalus
    • Strawberry hemangiomata
  • Brain Dysfunction
    • Ethanol exposure leads to structural alterations of the brain resulting in cognitive and behavioral dysfunction
    • Most serious consequence of heavy prenatal alcohol exposure
    • Diminished brain cell number and intelligence
    • Heterotopias (faulty migration) of neurons
    • Measures of brain dysfunction:
      • MR (not present in many)
      • Microcephaly
      • Epilepsy or other hard neurological signs
      • Subtle problems such as clumsiness and difficulties with visual-motor integration
      • Sleep regulation difficulty
      • Clinical features of ADHD
      • Poor inter-social relationships
  • Intelligence
    • The average IQ for patients with FAS is 63, which is considered mild mental retardation. Some patients with FAS have higher intelligence; patients can have a wide range of IQ's, including normal.
    • Developmental delay
    • Fine motor dysfunction
    • Irritability in infancy
    • Irregular patterns of academic achievement:
      • Hyperactivity (ADHD)
      • Poor communication skills
      • Difficulty remembering instructions
      • Irritability
      • Disorganization

Diagnostic Criteria[edit | edit source]

  • Cardinal features for FAS were established in the late 1970's
  • The condition can be characterized by:
    • A specific facial appearance
    • Evidence of organic brain damage
    • Growth deficiency
    • Alcohol exposure during gestation
  • A problem with the above criteria is the precision of measurement of each component (How many facial characteristics need to be present? How small must the child be?)
    • Overcome this problem with the 4-digit diagnostic code
    • 4 key diagnostic features (see above) are evaluated on a 4 point scale
    • A score of 1 reflects complete absence of the FAS feature and 4 reflecting a strong classic presence of the FAS feature
    • A score of 4444 denotes the most severe form of FAS while 1111 denotes a complete absence of FAS.
    • Scores between 1111 and 4444 represent the broad spectrum of outcome and exposure combinations

Risk Assessment[edit | edit source]

  • Risk of recurrence varies and is dependent upon the woman's drinking status during future pregnancies.
  • Women who do not drink during pregnancy have a 0% risk of recurrence
  • Women who are chronic alcoholics are at an increased risk of having a child with FAS.
  • Children with FAS have an increased risk of being alcoholics in adulthood.

Differential Diagnosis[edit | edit source]

  • Glue and solvent sniffing (toluene exposure) throughout pregnancy can produce infants who look strikingly like children with FAS
  • Seizure medications such as phenobarbital, valproic acid, and hydantoin can result in facial anomalies and organic brain damage

Management and Treatment[edit | edit source]

  • Carefully monitor growth by plotting on a growth curve
    • Children with FAS can be born as a SGA infant
    • Or birth size can be normal and fall below the growth curve during the 1st 12-18 months of life
  • Psychological and psychiatric assessments including a developmental evaluation (medication can be prescribed as necessary)
  • Family therapy
  • Special education in a variety of categories
  • Routine ophthalmologic evaluations
  • Routine audiological evaluations
  • Cardiovascular clinical evaluation at time of diagnosis
  • Renal ultrasounds (if patient has had a UTI or enuresis after age 8)
  • Clinical evaluation for spinal curvature
  • Implementing coping strategies in the home/classroom
    • Maintain a structured environment
    • Establish routines
    • Give short and concise instructions
    • Respond consistently to the child's behavior
    • Acknowledge the child's successes EVERY DAY
    • Redirect unacceptable behavior
    • Be patient
    • REPEAT…REPEAT….REPEAT

Psychosocial Issues[edit | edit source]

  • Biological mothers are often alcohol abusers and have a variety of health problems of their own.
  • One study shows that 50% of these mothers are missing or dead within 5 years of the birth.
  • 50% of children with FAS are in foster or adoptive care
  • Generally the reasons for final separation from the biological parent(s) were abuse and neglect.
  • This movement from home to home compounded by abuse and neglect usually has a profound effect on the child and his/her behavior.

Support Groups[edit | edit source]

  • Fetal Alcohol Syndrome Family Support Group
C/O Cardinal Hill of Northern Kentucky
212 Levassor Avenue
Covington, Kentucky 41014
(859) 491-1171

References[edit | edit source]

  • Jones KL (1997). Smith's Recognizable Patterns of Human Malformation. Philadelphia: W.B. Saunders Company.
  • Allanson JE, Cassidy SB (2001). Management of Genetic Syndromes. New York: Wiley-Liss, Inc.
  • Fetal Alcohol Syndrome: A Handbook for Parents and Caregivers. The University of New Mexico (1999)

Notes[edit | edit source]

The information in this outline was last updated in 2002.


This material has been imported fom the wikibook "Genetic counseling"[ http://en.wikibooks.org/wiki/Genetic_counseling] under the GNU Free Documentation License.

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