copyright alcohol medical scholars program1 fetal alcohol syndrome (fas) an overview lauren d....
TRANSCRIPT
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
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
Copyright Alcohol Medical Scholars Program 3
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
Copyright Alcohol Medical Scholars Program 4
Facies in FASFacies in FAS
Source: Streissguth and Little 1994Source: Streissguth and Little 1994
Copyright Alcohol Medical Scholars Program 5
Source: Aase 1994Source: Aase 1994
Copyright Alcohol Medical Scholars Program 6
Source: Aase 1994Source: Aase 1994
Copyright Alcohol Medical Scholars Program 7
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
Copyright Alcohol Medical Scholars Program 8
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
Copyright Alcohol Medical Scholars Program 9
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)
Copyright Alcohol Medical Scholars Program 10
EpidemiologyEpidemiology
• IncidenceIncidence- 0.26-4.6 per 1000 live births0.26-4.6 per 1000 live births
Copyright Alcohol Medical Scholars Program 11
EpidemiologyEpidemiology
• Risk FactorsRisk Factors- Alcohol intake pattern/quantityAlcohol intake pattern/quantity- Maternal age /parityMaternal age /parity- Race/socioeconomic statusRace/socioeconomic status- Genetic susceptibilityGenetic susceptibility
Copyright Alcohol Medical Scholars Program 12
Clinical CourseClinical CourseMorphological AbnormalitiesMorphological Abnormalities
Source: Streissguth et al. 1991Source: Streissguth et al. 1991
Copyright Alcohol Medical Scholars Program 13
Clinical CourseClinical CourseMorphological AbnormalitiesMorphological Abnormalities
Source: Streissguth et al. 1991Source: Streissguth et al. 1991
Copyright Alcohol Medical Scholars Program 14
Clinical CourseClinical Course
Morphological AbnormalitiesMorphological Abnormalities
Source: Streissguth et al. 1991Source: Streissguth et al. 1991
Copyright Alcohol Medical Scholars Program 15
Clinical CourseClinical CourseMorphological AbnormalitiesMorphological Abnormalities
Source: Streissguth et al. 1991Source: Streissguth et al. 1991
Copyright Alcohol Medical Scholars Program 16
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
Copyright Alcohol Medical Scholars Program 17
Clinical CourseClinical Course
• Neurobehavioral Effects (cont.)Neurobehavioral Effects (cont.)- AdolescenceAdolescence
- Academic problemsAcademic problems- Independent living problemsIndependent living problems- Conduct problemsConduct problems
Copyright Alcohol Medical Scholars Program 18
Clinical CourseClinical Course
• Neurobehavioral EffectsNeurobehavioral Effects- AdulthoodAdulthood
- Mental problemsMental problems- Memory problemsMemory problems- Behavior problemsBehavior problems
Copyright Alcohol Medical Scholars Program 19
Clinical CourseClinical Course
• Secondary DisabilitiesSecondary Disabilities- School failureSchool failure
- DelinquencyDelinquency
- Difficulty with employmentDifficulty with employment
- Difficulty with independent living Difficulty with independent living
Copyright Alcohol Medical Scholars Program 20
Treatment InterventionsTreatment Interventions
• Medical careMedical care
• Cognitive rehabilitation and special educationCognitive rehabilitation and special education
• Structured environment and supervisionStructured environment and supervision
Copyright Alcohol Medical Scholars Program 21
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
Copyright Alcohol Medical Scholars Program 22
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)
Copyright Alcohol Medical Scholars Program 23
PreventionPrevention
• InterventionIntervention- Universal approachesUniversal approaches
- Selective strategiesSelective strategies
- Indicated approachesIndicated approaches
Copyright Alcohol Medical Scholars Program 24
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