Fetal Alcohol Syndrome

Vaisnvi Muthoovaloo
B6

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.
Hipotesis Bayi tersebut menderita fetal
alcohol syndrome.

Anamnesis

Family tree
Document parental age and heights
Consanguity
Perinatal history : Still birth? Abortion?
Maternal alcohol intake throughout pregnancy
(several sources)
Medical and recreational drugs
Document birthweight and developmental
history

Pemeriksaan fisik
Growth parameters
Facial features
Neurological examinations
No single feature alone can be used to diagnose
FAS

Pemeriksaan Penunjang
Karyotype
FRAX
Cranial MRI

No single diagnostic test is avialable to

confirm FAS

Definitions

Arrested
development/incomplete
immature state

Hypoplastic midface
Epicanthus
Long, flat philtrum
Narrow upper lip vermillion

Differential Diagnosis

Differential Diagnosis
Down Syndrome
Fragile X

Working Diagnosis
Fetal Alcohol Syndrome

Working 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

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

Teratogenesis
Malformation

Malformation Production instrinsic

defectfailure of embryonic proliferation
and/or differentiation abnormal structure

Disruption production extrinsic(disruptive)

agents interferes with embryonic
development of a structure destruction or
removal of structure

Dysplasias Production intrinsic defect

abnormal cellular organization abnormal
model of structure

Deformation Packaging extrinsic defect

normally formed structure pushed out by
mechanical forces

Extrinsic

Disruption

Production, Instrinsic

Normal development

Pathophysiology
Effect of increased alcohol consumption on rat
embryos

Metabolism of alcohol and effects on

the body

Clinical Manifestations

Clinical Manifestations

Normal

FAS

Clinical Manifestations
Growth retardation
LBW, weight over
time.
CNS neurodevelopmental
anomalies
Impaired fine motor skills
Behavioral/cognitive/lear
ning defects
Alcohol related birth
defects

Treatment
Psychological and psychiatric assessments including a
developmental evaluation (medication can be
prescribed 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 enuresis
after age 8)
Clinical evaluation for spinal curvature

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)

Education
How much alcohol is in a drink?

12 oz beer = 5 oz wine = shot of liquor

in a mixed drink
Each contains the same amount of alcohol

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.