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Fetal Alcohol Syndrome

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  • 1. Fetal Alcohol Syndrome July 2008
  • 2. Learning Objectives
      • Recognize the effects alcohol has on a child
      • Differentiate effects from the ‘syndrome’
      • Understand the epidemiology of alcohol use and it’s effects on developing children
  • 3. FAS: Epidemiology
      • Alcohol exposure is the most common cause of birth defects
      • One of the most common identifiable causes of mental retardation
      • 1.9 per 1000 live births world-wide
      • If fetal alcohol effects included, incidence may be as high as 1 in 300 live births
  • 4. FAS: Definition
      • Case reports appeared in 1968; officially defined in 1973
      • Permanent birth defects caused by maternal consumption of alcohol during pregnancy
  • 5. Alcohol Related Effects: Spectrum
      • Fetal alcohol ‘syndrome’
      • Partial FAS with confirmed maternal alcohol exposure
      • Alcohol related birth defects
      • Alcohol related neurodevelopmental disorder
  • 6. Fetal Alcohol Syndrome
  • 7. Fetal Alcohol ‘ Syndrome ’: Diagnosis
      • All of the following categories must be present for diagnosis:
        • Confirmed maternal alcohol exposure (excessive drinking characterized by regular intake or heavy episodic drinking)
        • Characteristic facial anomalies
        • Growth retardation
        • CNS neurodevelopmental findings
  • 8. FAS: Characteristic Facial Anomalies
      • Short palpebral fissures
      • Ptosis
      • Flat midface
      • Upturned nose
      • Smooth philtrum
      • Thin upper lip
  • 9. Fetal Alcohol Syndrome
  • 10. Fetal Alcohol Syndrome
  • 11. FAS: Growth Retardation
      • Low relative birth weight
      • Growth retardation despite adequate nutrition
      • Low weight relative to height
      • Catch up growth possible later in childhood
  • 12. FAS: Neurodevelopmental Findings
      • Microcephaly
      • Structural brain abnormalities
        • Agenesis of corpus callosum
        • Cerebellar hypoplasia
      • Other neurologic signs
        • Fine motor difficulties
        • Sensorineural hearing loss
        • Poor gait coordination
        • Poor eye-hand coordination
  • 13. POP QUIZ
      • Fetal Alcohol Syndrome must have all 4 of the following :
        • Documented maternal exposure
        • Facial anomalies
        • Growth retardation
        • CNS Neuro-development findings
  • 14. Fetal Alcohol Effects
  • 15. Fetal Alcohol Effects
  • 16. Fetal Alcohol Effects : Other Behavioral Abnormalities
      • Learning disabilities
      • Poor school performance
      • Poor impulse control
      • Problems with social perception
      • Poor language abilities
      • Poor abstract reasoning
      • Poor math skills
      • Impaired memory and judgement
  • 17. Fetal Alcohol Effects: Birth Defects
      • Congenital heart defects
      • Skeletal and limb deformities
      • Anatomic renal abnormalities
      • Ophthalmologic abnormalities
      • Hearing loss
      • Cleft lip and palate
  • 18. Pathogenesis
      • Exact pathophysiology unknown
      • May involve free radical formation that causes damage in developing tissues
      • Exposure in first trimester affects organogenesis and craniofacial development
      • Alcohol use affects fetal nutrition
  • 19. FAS: How much is too much?
      • There is no “safe dose” of alcohol
      • Exposure early in pregnancy can produce more severe and more consistent effects
      • Mothers of children with FAS drink more and earlier than infants without fully expressed clinical features
      • Mothers who only drink later in gestation have an increased frequency of premature deliveries and SGA babies (decreases brain weight and number of neurons)
  • 20. FAS: How much is too much?
      • Major evidence of FAS/FAE is seen in 30-50% of offspring of mothers who are chronic severe alcoholics (>7 drinks/day)
      • More subtle effects tend to result from 4-6 drinks/day
      • Prematurity and SGA can result from 2-3 drinks/day
      • ?Genetic component: All infants exposed to same amount of alcohol will not be affected to the same degree
  • 21. FAS: How much is too much?
      • Based on animal research, one can predict potential fetal effects from a single binge episode (5 or more drinks in one sitting) during early development.
      • Consumption of 1-2 drinks/day associated with a substantially increased risk of growth retardation.
  • 22. FAS: Clinical Presentation
      • Newborn period:
        • Characteristic facial features
        • Suspected alcohol exposure
        • Low birth weight
        • Poor growth
        • Microcephaly
  • 23. FAS: Clinical Presentation
      • School age
        • Diagnosis easier to make between 2-11 years
        • Facial features usually present
        • Prominent and typical CNS dysfunction becomes apparent
          • Behavioral and cognitive problems
          • Poor school performance
          • Difficult social interactions
          • Memory problems
          • Impulsiveness
  • 24. FAS: Clinical Presentation
      • Adolescents/Adults
        • Facial features may disappear as child ages
        • Catch up growth may occur, esp in females
        • CNS manifestations become more prominent
        • As adults, they may be isolated and withdrawn
  • 25. Post-Natal Alcohol Exposure
      • Alcohol is excreted in breast milk at concentrations similar to blood
      • Acetaldehyde (potentially teratogenic alcohol metabolite) not excreted in milk
  • 26. Post-Natal Alcohol Exposure
      • Several potential breast feeding issues:
        • Nursing behavior and consumption of milk adversely affected by maternal alcohol consumption
        • Sucking induced prolactin and oxytocin release are inhibited by alcohol
        • Infants born to alcohol abusing mothers have poor suck pattern
        • Other drug use/abuse???
  • 27. FAS: Prognosis
      • Prognosis depends on associated pathology
      • Varying degrees of mental retardation
        • Average IQ 66 (range 16-105)
          • (IQ range for Fragile X 30-55)
          • (IQ range for Down Syndrome 25-50)
  • 28. FAS: Management
      • The earlier the diagnosis, the better
      • Evaluate and follow growth and nutrition
      • Early Intervention
      • Community resources for family
      • Resources for alcoholic mom
      • Other siblings affected?
  • 29. Fetal Alcohol Syndrome
  • 30. Fetal Alcohol Syndrome
  • 31. What do you remember…
  • 32. Fetal Alcohol Syndrome
      • What are the findings?
        • Documented maternal exposure
        • Facial anomalies
        • Growth retardation
        • CNS Neuro-development findings
      • How many of the above do you need for diagnosis?
        • All 4!!!
  • 33. How much is too much?!?
      • Any amount at all!!!
  • 34. Facial Features associated with FAS
      • Short palpebral fissures
      • Ptosis
      • Flat midface
      • Upturned nose
      • Smooth philtrum
      • Thin upper lip
  • 35. Give Away, Duh!!!
      • What is the most common cause of birth defects?
        • Alcohol
      • What is the rate of children born with effects from alcohol?
        • 1 in 300
  • 36. Great Job Everyone!!!