Fetal Alcohol Syndrome

July 2008

Learning Objectives

• Recognize the effects alcohol has on a child

• Differentiate effects from the ‘syndrome’

• Understand the epidemiology of alcohol use and it’s effects on developing children

FAS: 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

FAS: Definition

• Case reports appeared in 1968; officially defined in 1973

• Permanent birth defects caused by maternal consumption of alcohol during pregnancy

Alcohol Related Effects: Spectrum

• Fetal alcohol ‘syndrome’• Partial FAS with confirmed

maternal alcohol exposure• Alcohol related birth defects• Alcohol related

neurodevelopmental disorder

Fetal Alcohol Syndrome

Fetal Alcohol ‘Syndrome’: Diagnosis

• All of the following categories must be present for diagnosis:o Confirmed maternal alcohol exposure

(excessive drinking characterized by regular intake or heavy episodic drinking)

o Characteristic facial anomalieso Growth retardationo CNS neurodevelopmental findings

FAS: Characteristic Facial Anomalies

• Short palpebral fissures• Ptosis• Flat midface• Upturned nose• Smooth philtrum• Thin upper lip

Fetal Alcohol Syndrome

Fetal Alcohol Syndrome

FAS: Growth Retardation

• Low relative birth weight• Growth retardation despite

adequate nutrition• Low weight relative to height• Catch up growth possible later in

childhood

FAS: Neurodevelopmental Findings

• Microcephaly• Structural brain

abnormalitieso Agenesis of corpus

callosumo Cerebellar

hypoplasia

• Other neurologic signso Fine motor

difficultieso Sensorineural

hearing losso Poor gait

coordinationo Poor eye-hand

coordination

POP QUIZ• Fetal Alcohol Syndrome must have

all 4 of the following:o Documented maternal exposureo Facial anomalieso Growth retardationo CNS Neuro-development findings

Fetal Alcohol Effects

Fetal Alcohol Effects

Fetal Alcohol Effects: Other Behavioral Abnormalities• Learning disabilities• Poor school performance• Poor impulse control• Problems with social perception• Poor language abilities• Poor abstract reasoning• Poor math skills• Impaired memory and judgement

Fetal Alcohol Effects: Birth Defects

• Congenital heart defects• Skeletal and limb deformities• Anatomic renal abnormalities• Ophthalmologic abnormalities• Hearing loss• Cleft lip and palate

Pathogenesis

• Exact pathophysiology unknown• May involve free radical formation

that causes damage in developing tissues

• Exposure in first trimester affects organogenesis and craniofacial development

• Alcohol use affects fetal nutrition

FAS: How much is too much?

• There is no “safe dose” of alcohol• Exposure early in pregnancy can

produce more severe and more consistent effects

• Mothers of children with FAS drink more and earlier than infants without fully expressed clinical features

• Mothers who only drink later in gestation have an increased frequency of premature deliveries and SGA babies (decreases brain weight and number of neurons)

FAS: How much is too much?

• Major evidence of FAS/FAE is seen in 30-50% of offspring of mothers who are chronic severe alcoholics (>7 drinks/day)

• More subtle effects tend to result from 4-6 drinks/day

• Prematurity and SGA can result from 2-3 drinks/day

• ?Genetic component: All infants exposed to same amount of alcohol will not be affected to the same degree

FAS: How much is too much?

• Based on animal research, one can predict potential fetal effects from a single binge episode (5 or more drinks in one sitting) during early development.

• Consumption of 1-2 drinks/day associated with a substantially increased risk of growth retardation.

FAS: Clinical Presentation

• Newborn period:o Characteristic facial featureso Suspected alcohol exposureo Low birth weighto Poor growtho Microcephaly

FAS: Clinical Presentation

• School ageo Diagnosis easier to make between 2-11

yearso Facial features usually presento Prominent and typical CNS dysfunction

becomes apparent Behavioral and cognitive problems Poor school performance Difficult social interactions Memory problems Impulsiveness

FAS: Clinical Presentation

• Adolescents/Adultso Facial features may disappear as child

ageso Catch up growth may occur, esp in

femaleso CNS manifestations become more

prominento As adults, they may be isolated and

withdrawn

Post-Natal Alcohol Exposure

• Alcohol is excreted in breast milk at concentrations similar to blood

• Acetaldehyde (potentially teratogenic alcohol metabolite) not excreted in milk

Post-Natal Alcohol Exposure

• Several potential breast feeding issues:o Nursing behavior and consumption of milk

adversely affected by maternal alcohol consumption

o Sucking induced prolactin and oxytocin release are inhibited by alcohol

o Infants born to alcohol abusing mothers have poor suck pattern

o Other drug use/abuse???

FAS: Prognosis

• Prognosis depends on associated pathology

• Varying degrees of mental retardationo Average IQ 66 (range 16-105)

(IQ range for Fragile X 30-55) (IQ range for Down Syndrome 25-50)

FAS: Management

• The earlier the diagnosis, the better

• Evaluate and follow growth and nutrition

• Early Intervention• Community resources for family• Resources for alcoholic mom• Other siblings affected?

Fetal Alcohol Syndrome

Fetal Alcohol Syndrome

What do you remember…

Fetal Alcohol Syndrome

• What are the findings?oDocumented maternal exposureoFacial anomaliesoGrowth retardationoCNS Neuro-development findings

• How many of the above do you need for diagnosis?oAll 4!!!

How much is too much?!?

•Any amount at all!!!

Facial Features associated with FAS

• Short palpebral fissures• Ptosis• Flat midface• Upturned nose• Smooth philtrum• Thin upper lip

Give Away, Duh!!!

• What is the most common cause of birth defects?oAlcohol

• What is the rate of children born with effects from alcohol?o1 in 300

Great Job Everyone!!!