Fetal Alcohol Syndrome.pptx

8/10/2019 Fetal Alcohol Syndrome.pptx

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Fetal Alcohol Syndrome

Vaisnvi Muthoovaloo

B6


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Rumusan Masalah

Bayi berusia 10 bulan dengan berwajah khas(

hypoplastic midface dengan epicanthus, long

and flat philtrum, narrow upper lip vermillion)

dan retardasi mental dengan gangguan

perilaku.

HipotesisBayi tersebut menderita fetal

alcohol syndrome.


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Pemeriksaan Penunjang

Karyotype

FRAX

Cranial MRI

No single diagnostic test is avialable to

confirm FAS


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Definitions

Hypoplastic midface

Epicanthus

Long, flat philtrum Narrow upper lip vermillion

Arrested

development/incomplete

immature state


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Differential Diagnosis

Down Syndrome

Fragile X


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Working Diagnosis

Fetal Alcohol Syndrome


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Working diagnosis

All of the following categories must be

present for diagnosis: Confirmed maternal alcohol exposure (excessive

drinking characterized by regular intake or heavyepisodic drinking)

Characteristic facial anomalies

Growth retardation

CNS neurodevelopmental findings


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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


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Teratogenesis

Malformation Production instrinsicdefectfailure of embryonic proliferationand/or differentiationabnormal structure

Disruption production extrinsic(disruptive)agentsinterferes with embryonic

development of a structuredestruction orremoval of structure

DysplasiasProduction intrinsic defectabnormal cellular organization abnormalmodel of structure

Deformation Packaging extrinsic defect normally formed structure pushed out bymechanical forces

Normal development

Malformation

Disruption

Production,I

nstrinsic

Extrinsic


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Pathophysiology

Effect of increased alcohol consumption on rat

embryos


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Metabolism of alcohol and effects on

the body


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Clinical Manifestations


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Normal FAS


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Growth retardationLBW, weight overtime.

CNS neurodevelopmentalanomalies

Impaired fine motor skills

Behavioral/cognitive/learning defects

Alcohol related birthdefects


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Treatment

Psychological and psychiatric assessments including adevelopmental evaluation (medication can beprescribed as necessary)

Family therapy

Special education in a variety of categories Routine ophthalmologic evaluations

Routine audiological evaluations

Cardiovascular clinical evaluation at time of diagnosis

Renal ultrasounds (if patient has had a UTI or enuresisafter age 8)

Clinical evaluation for spinal curvature


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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)

Mental health problems (95%)

Confinement in prison, a drug or alcohol treatment center, or a mental institution

(55%)

Trouble with the law (60%)

Inappropriate sexual behavior (52%)

Inability to live independently (82%)

Problems with employment (70%)

Alcohol and drug problems (>50% of male subjects, 70% of female subjects)


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Education

No one knows what a safe amount of

Alcohol consumption during pregnancy

may be.

Health advisories urge women who are

planning pregnancy or are pregnant not to

drink alcohol.

Documents

Fetal Alcohol Syndrome.pptx