Fetal Alcohol Syndrome
Fetal Alcohol Syndrome: Excerpt from The 5-Minute Pediatric Consult
Michelle E. Melicosta, MDJanet M. Li-Tempest, MD
Fetal Alcohol Syndrome - BASICS
Fetal Alcohol Syndrome - description
Pattern of structural, behavioral, and neurocognitive abnormalities in individuals exposed to alcohol in utero. 6 diagnostic categories within fetal alcohol spectrum disorders (FASD) (Institute of Medicine [IOM]; clarified in Hoyme, et.al.):
- Fetal alcohol syndrome (FAS) with (Type I) or without (Type II) confirmed maternal exposure to alcohol:
- ≥2 characteristic facial anomalies
- Growth retardation
- CNS neurodevelopmental abnormalities
- See “Diagnosis,” below)
- Partial FAS with (Type III) or without (Type IV) confirmed maternal alcohol exposure:
- Characteristic facial anomalies
- Either growth retardation, CNS abnormalities, or unexplained behavior/cognitive abnormalities
- Alcohol-related birth defects (ARBD) (Type V):
- Confirmed maternal alcohol exposure
- Minor facial anomalies as above
- Congenital structural defects in at least 1 other system
- Normal growth and development
- Alcohol-related neurodevelopmental disorder (ARND) (Type VI):
- Confirmed maternal alcohol exposure
- Normal growth and structural development
- Either CNS abnormalities or unexplained behavior/cognitive abnormalities
- Confirmed maternal exposure to alcohol is defined as substantial regular intake or heavy episodic drinking. Evidence may include frequent episodes of intoxication, development of tolerance or withdrawal, social or legal problems related to drinking, engaging in physically hazardous behavior while drinking, or alcohol-related medical problems (e.g., hepatic disease).
Fetal Alcohol Syndrome - general prevention
FASD are the largest single preventable cause of mental retardation. Studies have shown that up to 15% of women report alcohol use during pregnancy. FASD are preventable if women of childbearing age abstain from alcohol prior to conception and throughout pregnancy. Recent FASD prevention research has focused on finding and treating women who drink alcohol during pregnancy (e.g., using a screening questionnaire to assess problem drinking in women, and then intervening at a level determined by the level of drinking). Good maternal nutritional status may be protective of the fetus in mothers who drink alcohol.
Fetal Alcohol Syndrome - epidemiology
Fetal Alcohol Syndrome - incidence
Incidence of complete FAS ranges from 0.3–1.5 per 1,000 live births. Including all FASD diagnoses increases this to 5–9 per 1,000. Higher rates are found among selected subgroups (e.g., African Americans and Native Americans).
Fetal Alcohol Syndrome - risk factors
Fetal Alcohol Syndrome - genetics
- Genetic factors contribute to variable susceptibility of individuals to FAS. Evidence: Maternal polymorphisms of the alcohol dehydrogenase gene (ADH)—the presence of the ADH1B*3 allele appears to protect the fetus; concordance of FAS is higher in monozygotic than in dizygotic twins; differential sensitivities to in utero alcohol exposure in different strains of mice
- Other factors that contribute to variable susceptibility include older maternal age/parity, nutritional status, use of other drugs.
Fetal Alcohol Syndrome - pathophysiology
- May involve increased susceptibility to cell damage by free radicals in the developing tissues, leading to cell death or decreased cellular proliferation
- Alcohol and its metabolite, acetaldehyde, are embryotoxic and teratogenic, capable of reducing fetal growth and inducing malformations during critical periods in the development of the fetus.
- Exposure in the 1st trimester affects organogenesis and craniofacial development, resulting in characteristic facial features and birth defects.
- Exposure at varying times can cause CNS neurodevelopmental effects, because brain formation and neuronal maturation occur throughout pregnancy.
- Exposure also causes prenatal and postnatal growth retardation, probably by inhibiting protein and DNA synthesis.
Fetal Alcohol Syndrome - DIAGNOSIS
Fetal Alcohol Syndrome - signs & symptoms
- Facial anomalies (at least 2):
- Short palpebral fissures (≤10th percentile)
- Thin vermilion border upper lip (score of 4 or 5 on the lip/philtrum guide [Astley, 2000])
- Ptosis and short, upturned nose are not mentioned in IOM criteria, but are commonly seen in children with FAS.
- Growth retardation, pre- or postnatal onset:
- Height or weight ≤10th percentile
- CNS neurodevelopmental abnormalities (at least 1 for diagnosis):
- Microcephaly at birth OFC <10th percentile
- Structural brain abnormalities (e.g., agenesis of corpus callosum, cerebellar hypoplasia)
- Unexplained behavior or cognitive abnormalities:
- Learning difficulties
- Poor school performance
- Poor impulse control
- Problems in social perception
- Deficits in higher level receptive and expressive language
- Poor abstract reasoning
- Poor math skills
- Impaired memory, attention, or judgment
- Birth defects—for ARBD, must have at least 1 of the following:
- Cardiac (30%): Atrial septal defect, ventricular septal defect (most common), aberrant great vessels, conotruncal defects
- Skeletal (18%): Radioulnar synostosis, vertebral defects
- Renal: Hydronephrosis, renal agenesis, hypoplastic, dysplastic, or horseshoe kidneys
- Ocular: Strabismus, ptosis, retinal vascular anomalies, optic nerve hypoplasia
- Auditory: Hearing loss (conductive—75% of children with FAS; neurosensory—less common)
- Minor anomalies (would need 2 if none of the above): Nail hypoplasia, clinodactyly, camptodactyly, “hockey stick” palmar creases, “railroad track” ears, pectus excavatum
Fetal Alcohol Syndrome - history
- Birth history, birth and subsequent growth parameters (weight, height, head circumference)
- Medical history
- Maternal history of alcohol use (binge drinking, average number of drinks per day, timing in pregnancy) and other drug use
- Family history: Neurobehavioral abnormalities should NOT be typical of other family members who were not exposed to ETOH prenatally.
- Learning/behavior problems, infancy:
- May or may not have ethyl alcohol withdrawal as newborn
- Irritability, irregular sleep, poor feeding, hypotonia, delayed motor function
- Learning/behavior problems, preschool and school age:
- Hyperactive
- Slow verbal learning
- Slow visual-spatial learning
- Poor abstract thinking (planning and organizing)
- Perseveration (inability to abandon ineffective strategies)
- Attention problems
- Difficulty with peer interactions
- Learning/behavior problems, adolescence and adulthood:
- Substance abuse
- Criminal behavior
- Inability to work
- Inability to live independently
- Difficulty managing time and money
- Affected siblings:
- Usually younger siblings are affected more severely; if older sibling was not previously diagnosed and shows signs of alcohol-related effects, he or she will also need evaluation and services.
- Child in a high-risk living situation:
- Keep in mind that external influences, such as poverty, unstable home environment, poor emotional support, and lack of educational resources, contribute to behavioral problems.
Fetal Alcohol Syndrome - physical exam
- Weight, height, head circumference:
- Microcephaly persists throughout life.
- Some catch-up growth occurs in adolescence, especially in girls, but adult height attained remains lower than expected for parental height.
- Facial exam (short palpebral fissures, ptosis, flat midface, upturned nose, smooth philtrum, thin upper lip): Facial features become less prominent in adolescence and adulthood.
- Complete physical exam, including neurologic exam: Look for associated defects of the heart, skeletal system.
Fetal Alcohol Syndrome - tests
Neuropsychological testing: Simple IQ tests cannot distinguish children with ARND from those with other developmental disabilities. Tests of executive functioning consistently show deficits in children with ARND; these include the WISC-III mazes and the Wisconsin category test.
Fetal Alcohol Syndrome - lab
- No laboratory marker exists for FAS.
- Consider chromosome studies if diagnosis is unclear.
- Other lab tests as indicated by the child’s specific medical problems
Fetal Alcohol Syndrome - differencial diagnosis
- By physical features:
- Aarskog syndrome
- Williams syndrome
- Noonan syndrome
- Velocardiaofacial Syndrome
- Dubowitz syndrome
- Bloom syndrome
- Fetal hydantoin syndrome
- Maternal phenylketonuria fetal effects
- Toluene embryopathy
- By neurobehavioral features:
- Fragile X syndrome
- 22q11 deletion syndromes
- Turner syndrome
- Opitz syndrome
Fetal Alcohol Syndrome - TREATMENT
The role of the pediatrician is early identification (with help from specialists), resulting in early intervention and appropriate referrals:
- To social and educational resources in the community to support family and child
- For comprehensive neuropsychologic evaluation (IQ, achievement, executive function, memory, adaptive function, language, reasoning and judgment, behavior)
- For ophthalmologic exam (consider routine screening prior to school, then every 2 years)
- For hearing test (consider brainstem auditory evoked response [BAER] at 6–12 months)
Fetal Alcohol Syndrome - FOLLOW UP
Fetal Alcohol Syndrome - prognosis
- 50% are mentally retarded (IQ <70). Average IQ in individuals with FAS is in the 60s (mild mental retardation); however, a wide range of IQ exists, from 16–115.
- 62% have severe behavioral problems, even if a normal IQ exists.
- The major disabilities of FAS caused by the neurocognitive/neurobehavioral effects lead to poor academic performance, legal problems, employment difficulties, and secondary mental health problems.
Fetal Alcohol Syndrome - patient monitoring
- Growth and nutrition in infancy: Failure to thrive is a common problem.
- Regular evaluations of vision and hearing: Problems occur at a high rate.
- As indicated by other medical/psychologic problems
Fetal Alcohol Syndrome - bibliography
- Aase JM, Jones KL, Clarren SK. Do we need the term “FAE”? Pediatrics. 1995;95:428–430.
Abel EL. Fetal Alcohol Abuse Syndrome. New York: Plenum Publishing; 1998.- American Academy of Pediatrics. Fetal alcohol syndrome and alcohol-related neurodevelopmental disorders. Pediatrics. 2000;106:358–361.
- Astley, SJ. Diagnosing the full spectrum of fetal-alcohol exposed individuals. Alcohol Alcohol. 2000;35:400–410.
Dorris M. The Broken Cord. New York: HarperCollins; 1990.- Ebrahim SH. Pregnancy-related substance use in the U.S. 1996–1998. Obstet Gyn. 2003;101:374.
- Hoyme, HE. A practical clinical approach to Diagnosis of fetal alcohol spectrum disorders: Clarification of the 1996 IOM Criteria. Pediatrics. 2005;115:39–47.
Institute of Medicine. Fetal Alcohol Syndrome: Diagnosis, Epidemiology, Prevention, and Treatment. Washington, DC: National Academy of Sciences; 1996.National Institute on Alcohol Abuse and Alcoholism. Fetal Alcohol Exposure and the Brain. Bethesda, MD: National Institutes of Health; 2000. Alcohol Alert no. 50.- Thackray HM, Tifft C. Fetal alcohol syndrome. Pediatr Rev. 2001;22:47–55.
- Spohr HL, Willms J, Steinhausen HC. Related articles, links abstract fetal alcohol spectrum disorders in young adulthood. J Pediatr. 2007;150(2):175–179, 179.
- Warren KR. Genetic Polymorphisms: Impact on the risk of fetal spectrum disorders. Birth Defects Res A Clin Mol Teratol. 2005;73:195.
Fetal Alcohol Syndrome - CODES
Fetal Alcohol Syndrome - icd9
760.71 Noxious influences affecting fetus via placenta or breast milk, alcohol
Fetal Alcohol Syndrome - FAQ
- Q: What is FAE (fetal alcohol effect)?
- A: FAE originally described abnormalities seen in animal studies, then was adopted by clinicians, who widely used the term to refer to behavioral and cognitive problems in children exposed to alcohol in utero without the typical diagnostic features.
Because of lack of diagnostic criteria for FAE and the imprecise use of this term, IOM replaced FAE with the terms ARND and ARBD.
Use of the terms ARND and ARBD is also controversial in that they imply that confirmed maternal alcohol exposure is causative of the associated abnormalities, which at present, is not proven.
In summarizing the problem list for an individual who may not meet the criteria for FAS or partial FAS, some leading dysmorphologists recommend listing the elements separately without attribution, rather than using the confusing terms FAE or ARND/ARBD. Example: Impression 1, prenatal alcohol exposure (mild, moderate, or severe); 2, cleft lip and palate, complete bilateral; 3, cognitive deficit (mild, moderate, or severe)
- Q: How much alcohol does it take to produce damage?
- A: Clinically significant effects are more common in children whose mothers consume 5 or more drinks per occasion per week (peak blood alcohol level is more important than a lower sustained blood alcohol level). However, no minimum safe level of alcohol consumption has been determined.
- Q: Do most children with FAS have ADHD?
- A: Although hyperactivity appears to be common in FAS, many of these children are misdiagnosed as having ADHD.
Instead of difficulty focusing and sustaining attention, children with FAS often have difficulty shifting attention from one task to another.
Use of stimulant medication is not routinely supported, although a small proportion may respond to stimulant medication in educational settings.
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Book Source Details
- Book Title: The 5-Minute Pediatric Consult
- Author(s): M. William Schwartz MD; et al.
- Year of Publication: 2008
- Copyright Details: The 5-Minute Pediatric Consult, Copyright © 2008 Lippincott Williams & Wilkins.
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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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More About This Book:
Title: The 5-Minute Pediatric Consult
Authors: M. William Schwartz MD; et al.
Publisher: Lippincott Williams & Wilkins
Copyright: 2008
ISBN: 0-7817-7577-9
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