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Copyright Alcohol Medical Scholars Program 1 Fetal Alcohol Syndrome Fetal Alcohol Syndrome (FAS) (FAS) An Overview An Overview Lauren D. Williams, M.D. Lauren D. Williams, M.D. University of Miami School University of Miami School of Medicine of Medicine

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Page 1: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

Copyright Alcohol Medical Scholars Program 1

Fetal Alcohol Syndrome (FAS)Fetal Alcohol Syndrome (FAS)An OverviewAn Overview

Lauren D. Williams, M.D.Lauren D. Williams, M.D.

University of Miami School of University of Miami School of MedicineMedicine

Page 2: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

Copyright Alcohol Medical Scholars Program 2

DefinitionDefinition

• FAS is a serious developmental disorder caused by FAS is a serious developmental disorder caused by prenatal alcohol exposure of the fetus and prenatal alcohol exposure of the fetus and characterized bycharacterized by

- Prenatal and/or postnatal growth retardationPrenatal and/or postnatal growth retardation

- Central nervous system dysfunctionCentral nervous system dysfunction

- Characteristic craniofacial abnormalitiesCharacteristic craniofacial abnormalities

Page 3: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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Definition (cont.)Definition (cont.)

• FAS:FAS:- First described by Lemoine in 1968First described by Lemoine in 1968- Term coined by Jones and Smith in 1973Term coined by Jones and Smith in 1973

Page 4: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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Facies in FASFacies in FAS

Source: Streissguth and Little 1994Source: Streissguth and Little 1994

Page 5: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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Source: Aase 1994Source: Aase 1994

Page 6: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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Source: Aase 1994Source: Aase 1994

Page 7: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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Spectrum of EffectsSpectrum of Effects

N o E ffec t

A lcoh o l R e la tedB irth D e fec ts

(A R B D )

A lcoh o l R e la tedN eu rod eve lop m en ta l

D isord ers(A R N D )

F eta l A lcoh o lE ffec ts

Fetal AlcoholSyndrom e

D eath

P ren ata l A lcoh o l E xp osu re

Page 8: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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Diagnostic CriteriaDiagnostic Criteria

• Prenatal and/or postnatal growth retardation Prenatal and/or postnatal growth retardation

< 10< 10thth percentile percentile

• Central nervous system dysfunction: Central nervous system dysfunction: neurological, developmental, cognitive neurological, developmental, cognitive

• At least 2 facial featuresAt least 2 facial features

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PathogenesisPathogenesis

• Direct toxic effects of alcoholDirect toxic effects of alcohol

• Toxic effects of acetaldehydeToxic effects of acetaldehyde

• Placental dysmorphology/functionPlacental dysmorphology/function

• Prostaglandin synthesisProstaglandin synthesis

• Early cell death (Apoptosis)Early cell death (Apoptosis)

Page 10: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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EpidemiologyEpidemiology

• IncidenceIncidence- 0.26-4.6 per 1000 live births0.26-4.6 per 1000 live births

Page 11: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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EpidemiologyEpidemiology

• Risk FactorsRisk Factors- Alcohol intake pattern/quantityAlcohol intake pattern/quantity- Maternal age /parityMaternal age /parity- Race/socioeconomic statusRace/socioeconomic status- Genetic susceptibilityGenetic susceptibility

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Clinical CourseClinical CourseMorphological AbnormalitiesMorphological Abnormalities

Source: Streissguth et al. 1991Source: Streissguth et al. 1991

Page 13: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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Clinical CourseClinical CourseMorphological AbnormalitiesMorphological Abnormalities

Source: Streissguth et al. 1991Source: Streissguth et al. 1991

Page 14: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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Clinical CourseClinical Course

Morphological AbnormalitiesMorphological Abnormalities

Source: Streissguth et al. 1991Source: Streissguth et al. 1991

Page 15: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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Clinical CourseClinical CourseMorphological AbnormalitiesMorphological Abnormalities

Source: Streissguth et al. 1991Source: Streissguth et al. 1991

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Clinical CourseClinical Course

• Neurobehavioral EffectsNeurobehavioral Effects- Newborn/InfantsNewborn/Infants

- Disturbed sleep patternsDisturbed sleep patterns

- Excessive arousalExcessive arousal

- Feeding difficulties, failure to thriveFeeding difficulties, failure to thrive

- Preschool/School agePreschool/School age- HyperactivityHyperactivity

- Attention difficultiesAttention difficulties

- Mental retardationMental retardation

Page 17: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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Clinical CourseClinical Course

• Neurobehavioral Effects (cont.)Neurobehavioral Effects (cont.)- AdolescenceAdolescence

- Academic problemsAcademic problems- Independent living problemsIndependent living problems- Conduct problemsConduct problems

Page 18: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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Clinical CourseClinical Course

• Neurobehavioral EffectsNeurobehavioral Effects- AdulthoodAdulthood

- Mental problemsMental problems- Memory problemsMemory problems- Behavior problemsBehavior problems

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Clinical CourseClinical Course

• Secondary DisabilitiesSecondary Disabilities- School failureSchool failure

- DelinquencyDelinquency

- Difficulty with employmentDifficulty with employment

- Difficulty with independent living Difficulty with independent living

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Treatment InterventionsTreatment Interventions

• Medical careMedical care

• Cognitive rehabilitation and special educationCognitive rehabilitation and special education

• Structured environment and supervisionStructured environment and supervision

Page 21: Copyright Alcohol Medical Scholars Program1 Fetal Alcohol Syndrome (FAS) An Overview Lauren D. Williams, M.D. University of Miami School of Medicine

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PreventionPrevention

• IdentificationIdentification- HistoryHistory

- Screening instruments-AUDIT,TWEAKScreening instruments-AUDIT,TWEAK- T = ToleranceT = Tolerance- W = WorriedW = Worried- E = Eye-openersE = Eye-openers- A = Amnesia (Blackouts)A = Amnesia (Blackouts)- K (c) = Cut-downK (c) = Cut-down

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PreventionPrevention

• Identification (cont.)Identification (cont.)– Biological markersBiological markers

- Gamma-glutamyl transpeptidase (GGT)Gamma-glutamyl transpeptidase (GGT)- Carbohydrate-deficient transferrin (CDT)Carbohydrate-deficient transferrin (CDT)- Mean corpuscular volume (MCV)Mean corpuscular volume (MCV)

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PreventionPrevention

• InterventionIntervention- Universal approachesUniversal approaches

- Selective strategiesSelective strategies

- Indicated approachesIndicated approaches

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SummarySummary

• FASFAS- Severe developmental disability resulting from Severe developmental disability resulting from

prenatal alcohol exposureprenatal alcohol exposure- One of the leading causes of mental retardationOne of the leading causes of mental retardation- Not just a childhood problemNot just a childhood problem- Early diagnosis and intervention importantEarly diagnosis and intervention important- PreventablePreventable