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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Clinical Manifestations
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Normal FAS
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Clinical Manifestations
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.