Fetal Alcohol Syndrome


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Fetal Alcohol Syndrome

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