Fetal Alcohol Syndrome is caused by a mother's consumption of alcohol during pregnancy. It can result in permanent birth defects and is one of the most common causes of mental retardation. The diagnosis requires confirmed prenatal alcohol exposure as well as characteristic facial features, growth problems, and central nervous system abnormalities. While any alcohol use during pregnancy can potentially harm the fetus, the risks are greater with frequent or binge drinking. There is no known safe amount of alcohol, and effects can range from subtle learning disabilities to full Fetal Alcohol Syndrome.

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!!!