Genetic counseling: Fetal Alcohol Syndrome

Fetal Alcohol Syndrome

Contracting

 * 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 Family History and Pedigree

 * Confirm family history taken by Jane- any updates?

Definition

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

Etiology

 * 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

 * 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

 * 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

 * 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

 * 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

 * 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

 * 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

 * 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

 * 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

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