Definition - Alcohol Medical Scholars Program

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Fetal Alcohol Syndrome (FAS)

An Overview

Lauren D. Williams, M.D.

University of Miami School of

Medicine

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Definition

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

- Prenatal and/or postnatal growth retardation

- Central nervous system dysfunction

- Characteristic craniofacial abnormalities

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Definition (cont.)

• FAS:

- First described by Lemoine in 1968

- Term coined by Jones and Smith in 1973

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Facies in FAS

Source: Streissguth and Little 1994

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Source: Aase 1994

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Source: Aase 1994

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Spectrum of Effects

No Effect

Prenatal Alcohol Exposure

Fetal Alcohol

Effects

Fetal Alcohol

Syndrome

Alcohol Related

Birth Defects

(ARBD)

Alcohol Related

Neurodevelopmental

Disorders

(ARND)

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Death

7

Diagnostic Criteria

• Prenatal and/or postnatal growth retardation

< 10 th percentile

• Central nervous system dysfunction: neurological, developmental, cognitive

• At least 2 facial features

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Pathogenesis

• Direct toxic effects of alcohol

• Toxic effects of acetaldehyde

• Placental dysmorphology/function

• Prostaglandin synthesis

• Early cell death (Apoptosis)

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Epidemiology

• Incidence

- 0.26-4.6 per 1000 live births

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Epidemiology

• Risk Factors

- Alcohol intake pattern/quantity

- Maternal age /parity

- Race/socioeconomic status

- Genetic susceptibility

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Clinical Course

Morphological Abnormalities

Source: Streissguth et al. 1991

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Clinical Course

Morphological Abnormalities

Source: Streissguth et al. 1991

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Clinical Course

Morphological Abnormalities

Source: Streissguth et al. 1991

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Clinical Course

Morphological Abnormalities

Source: Streissguth et al. 1991

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Clinical Course

• Neurobehavioral Effects

Newborn/Infants

-

Disturbed sleep patterns

-

Excessive arousal

-

Feeding difficulties, failure to thrive

- Preschool/School age

-

Hyperactivity

-

Attention difficulties

-

Mental retardation

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Clinical Course

• Neurobehavioral Effects (cont.)

- Adolescence

-

Academic problems

-

Independent living problems

-

Conduct problems

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Clinical Course

• Neurobehavioral Effects

- Adulthood

- Mental problems

- Memory problems

- Behavior problems

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Clinical Course

• Secondary Disabilities

- School failure

- Delinquency

- Difficulty with employment

- Difficulty with independent living

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Treatment Interventions

• Medical care

• Cognitive rehabilitation and special education

• Structured environment and supervision

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Prevention

• Identification

- History

- Screening instruments-AUDIT,TWEAK

-

T = Tolerance

-

W = Worried

-

E = Eye-openers

-

A = Amnesia (Blackouts)

-

K (c) = Cut-down

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Prevention

• Identification (cont.)

– Biological markers

- Gamma-glutamyl transpeptidase (GGT)

- Carbohydrate-deficient transferrin (CDT)

- Mean corpuscular volume (MCV)

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Prevention

• Intervention

- Universal approaches

- Selective strategies

- Indicated approaches

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Summary

• FAS

- Severe developmental disability resulting from prenatal alcohol exposure

- One of the leading causes of mental retardation

- Not just a childhood problem

- Early diagnosis and intervention important

- Preventable

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