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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 Medical History[]
Elicit Family History and Pedigree[]
- Confirm family history taken by Jane- any updates?
Psychosocial Assessment[]
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
References[]
- 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[]
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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