FETAL ALCOHOL SPECTRUM DISORDER 1

FASD
(FETAL ALCOHOL SPECTRUM DISORDER)
The term “FASD”
➔ The term FASD refers to a diagnostic subtype a long a spectrum
that requires DSM 5 diagnosis
➔ The different types:
◆ FAS - Fetal Alcohol Syndrome
◆ pFAS - Partial Fetal Alcohol Syndrome
◆ ARND - Alcohol Related Neurodevelopmental Disorder
◆ ARBD - Alcohol Related Birth Deficits
◆ ND-PAE - Neurobehavioural Disorder Associated with Prenatal
Alcohol Exposure

EPIDEMIOLOGY
FASD PREVALENCE GLOBALLY
➔ Globally more than 1700 infants are born with FASD every day
FASD PREVALENCE IN SOUTH AFRICA
➔ SA has the highest rate of FASD and FAS worldwide
➔ 10% of the population is affected by alcohol exposure during
pregnancy
➔ WHY IS PREVALENCE SO HIGH IN SOUTH AFRICA?
◆ The dop system and its legacy:
● Alcohol as payment for labour
WHY DO MOTHERS CONTINUE TO DRINK DURING
PREGNANCY?
➔ They are unaware of the risks
➔ The dop legacy
➔ Poor family planning
➔ Peer pressure
➔ Existing alcohol use disorder
➔ Its socially accepted
➔ Unemployment - escape from reality
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 FETAL ALCOHOL SPECTRUM DISORDER

ALCOHOL
ALCOHOL IS A TERATOGEN
WHAT IS A TERATOGEN?
➔ A teratogen is any substance, disease, drug or environmental agent
that can:
◆ Harm the developing fetus
◆ Impair normal development
◆ Cause birth defects in prenatal development
Dosage and effect of the teratogen:
➔ It is a dosage dependent effect - so as the teratogen increases so
does the deficits and impairments
➔ Teratogenicity of alcohol is affected by:
◆ Amount of alcohol consumed during pregnancy
◆ The timing of alcohol consumption during pregnancy
◆ Frequency of alcohol consumed during pregnancy
◆ Genetic variability
ALCOHOL VS OTHER TERATOGENIC SUBSTANCES LIKE
DRUGS
➔ Alcohol causes more harm than any other illegal substance

WHAT DOES ALCOHOL DO TO CELLS?

➔ Alcohol damages the cells by increasing the production of oxygen and
oxygen radicals
➔ Which then interacts with the DNA, protein and lipids
➔ Causing cell death

IS DRINKING SAFE DURING PREGNANCY?

➔ NOOOOOOO!!!! Drinking is never safe during pregnancy
➔ There is NO drink that contains alcohol that is safe during pregnancy

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LEVELS OF PRENATAL ALCOHOL EXPOSURE

➔ Light exposure - <0.5 units of pure alcohol per day
➔ Moderate exposure - o.5 - 0.99 units of pure alcohol per day
➔ Heavy exposure - 1 unit of pure alcohol per day
➔ Binge drinking in women amounts to 4 drinks per session
➔ Binge drinking in men amounts to 5 drinks per session

ALCOHOL METABOLISM IN THE BODY

➔ Alcohol dehydrogenase converts alcohol into acetaldehyde
➔ Then, aldehyde dehydrogenase converts acetaldehyde into a less
harmful acetate
➔ Maternal alleles that are associated with efficient alcohol metabolism
is underrepresented in FASD individuals

PRENATAL EXPOSURE TO ALCOHOL

(PAE)
EFFECTS OF PAE
➔ Growth deficiencies
➔ Developmental delays
➔ Facial abnormalities
➔ Behavioural impairment
➔ Cognitive impairment
➔ Motor deficits
➔ Physical effects (malformations)

PRENATAL RISK FACTORS OF FASD

➔ Personal factors
➔ Previous birth of a child with FASD
➔ Gravidity/Parity
➔ Maternal Alcohol Addiction
➔ Maternal age

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 FETAL ALCOHOL SPECTRUM DISORDER

➔ Maternal stress
➔ Maternal health
➔ Poor nutrition during pregnancy
➔ Other drugs and environmental agents
➔ Socio-economic status
➔ Epigenetics and genetics

POSTNATAL FACTORS OF FASD

➔ Birth complications
➔ Cerebral infection
➔ Environmental toxins
➔ Experience and the interplay of the environment

EPIGENETICS/GENETICS AND ALCOHOL

➔ In epigenetics, alcohol acts by:
◆ Altering the epigenetic marks(DNA methylation and Histone
modifications)
◆ Rearranging the chromosomes

a) Altering the epigenetic marks:

i) Such as the DNA methylation - affecting a set of biochemical
reactions called the methionine-homocysteine cycle
ii) As well histone modifications
b) Rearranging the chromosomes
i) Chromosomal deletions and duplications that can explain part of
the FASD features
Can the effects of PAE be passed?
- Yes, it can be passed via the EPIGENOME

EPIGENOME
➔ Is a regulator of the genome which is needed for the normal
development of a multicellular organism

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➔ The fathers consumption of alcohol can alter the paternal epigenome

which cause deficits in his future children

EFFECTS OF PAE and GENETICS/EPIGENETICS

1. Preconceptual period
a. Epigenetic effects of the maternal environment on eggs
b. Epigenetic effects of the paternal environment on sperm
2. Prenatal development
a. Alcohol-induced chromosome rearrangements
b. Alcohol-induced epigenetic alterations
3. Postnatal development
a. Birth complications
b. Cerebral infections
c. Environmental toxins
d. The interplay between the environment and experience

IMPACT OF PAE ON BRAIN

OVERALL BRAIN SIZE
➔ Overall reduction in brain size in the parietal, frontal and
perisylvian areas
➔ Used as a covariate when looking at other neuroanatomical structures

CEREBELLUM
➔ Reductions in the surface area and cerebellar volume
➔ Changes in the cortical folding of the cerebellum

CORPUS CALLOSUM
➔ Reduced colossal size and thickness
➔ Colossal shape abnormalities
➔ Inferior and anterior displacement of the posterior regions
➔ Corpus callosum agenesis

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 FETAL ALCOHOL SPECTRUM DISORDER

DIAGNOSING FASD
Diagnosing FASD is done by a multidisciplinary team of trained
professionals.

There are FOUR CATEGORIES OF EVIDENCE of FASD

1. Maternal consumption of alcohol
2. Prenatal and postnatal growth delay/retardation
3. Presence of a specific pattern of face anomalies
4. Abnormal brain growth, abnormal morphogenesis and abnormal
neurophysiology

PROCESS OF DIAGNOSING
1. Consider the phenocopies of FASD
2. Alcohol consumption interview
3. Neuropsychological/psychological assessment
4. Multidisciplinary case conference

In CANADA there are only TWO diagnostic categories:

- FASD with sentinel facial features
- FASD without sentinel facial features

ASSESSMENT OF ALCOHOL CONSUMPTION

➔ Is done through the maternal alcohol consumption interview
➔ THE RULES IN THE INTERVIEW:
◆ Start with the broader questions about health and then
progress to the sensitive questions of alcohol use
◆ Questions should be asked in a time-line follow back manner
◆ Query the overall drinking pattern immediately, before you
move onto pregnancy and pregnancy related drinking habits
➔ MAIN QUESTIONS TO BE COVERED AND ASKED:
1. Was alcohol consumed during pregnancy?
2. Was alcohol consumed during breastfeeding?

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3. Were there other teratogens (drugs) used?

4. Is there an existing diagnosis of FASD or ND-PAE?
➔ These questions also have follow up questions if answered yes:

MAIN Was alcohol Was alcohol Were other Is there

QUESTIONS consumed consumed teratogens existing
TO ASK during during (drugs) diagnosis of
pregnancy? breastfeedin used? FASD or
g? ND-PAE?

FOLLOW UP Quantity of Quantity of Amount of When were

QUESTIONS alcohol alcohol other drugs they
consumed consumed used diagnosed?

Frequency Frequency What was Who did the

of alcohol of alcohol used diagnosis
consumed consumed
Amount On what
Timing of The amount grounds was
alcohol of time Timing the
during spent diagnosis
gestation waiting Frequency made
before
Current feeding Current Age the
consumption consumption diagosis
Current was made
consumption

DSM 5 REQUIREMENTS TO ESTABLISH PAE:

[NEED TO PRESENT WITH ONE OR MORE OF THE FOLLOWING]
1. Consumption of 6 or more drinks per week for 2 of more weeks
2. Consumption of 3 or more drinks per session for 2 or more
occasions
3. Other documentation/history of alcohol-related social or legal
problems before/during pregnancy
4. Evidence and documentation of alcohol consumption during
pregnancy (urine, blood, breath tests)

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DIAGNOSING FETAL ALCOHOL SYNDROME (FAS)

FAS is the most severe on the spectrum and can be diagnosed with or
without confirmed history of PAE

FAS requires the FEATURES of 4 MAIN DIAGNOSTIC CRITERIA (based

off the DSM 5 )
1. Characteristic pattern of minor facial anomalies
2. Prenatal and/or postnatal growth deficiency
3. Deficient brain growth, abnormal morphogenesis and abnormal
neurophysiology
4. Neurobehavioural impairment

pFAS with confirmed history of PAE requires the FEATURES of these

DIAGNOSTIC CRITERIA
1. Characteristic pattern of minor facial anomalies
2. Neurobehavioural impairment

pFAS without confirmed history of PAE require the FEATURES of these

DIAGNOSTIC CRITERIA
1. Characteristic pattern of minor facial anomalies
2. Prenatal and/or postnatal growth deficiency
3. Deficient brain growth, abnormal morphogenesis and abnormal
neurophysiology
4. Neurobehavioural impairment

GROWTH ANOMALIES IN FASD

- Small head circumference due to reduced cranium size at birth
- Low birth weight for gestational age
- Decelerating weight over time not due nutrition
- Disproportionate weight to height
- Small stature

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 FETAL ALCOHOL SPECTRUM DISORDER

FACIAL FEATURES
- Short palpebral fissure (eye opening)
- Smooth/hypoplastic philtrum
- Thin vermillion border (upper lip)

OTHER DYSMORPHIC CHARACTERISTICS

- Railroad track ear
- Hockey-stick palmar crease

DIAGNOSING ALCOHOL-RELATED NEURODEVELOPMENTAL

DISORDER (ARND)
TWO CRITERIA
1. Confirmed history of PAE
2. Neurobehavioural impairment

DIAGNOSING ALCOHOL-RELATED BIRTH DEFICITS (ARBD)

TWO CRITERIA
1. Confirmed history of PAE
2. Congenital physical abnormalities

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 FETAL ALCOHOL SPECTRUM DISORDER

DIAGNOSING NEUROBEHAIVOURAL DISORDER ASSOCIATED WITH

PRENATAL ALCOHOL EXPOSURE (ND-PAE)

These are the important features in diagnosing ND-PAE

1. Documented history of PAE
2. Evidence of neurocognitive impairment
3. Evidence of self-regulation deficit
4. Evidence of an adaptive function deficit

STEP ONE - DOCUMENTED HISTORY OF PAE

(gained from maternal alcohol consumption interview)

STEP TWO - EVIDENCE OF NEUROCOGNITIVE IMPAIRMENT

Includes:
● Global intellectual impairment
● Learning deficits
● Memory deficits
● Executive functioning deficits
● Visual spatial deficits

STEP 3 - EVIDENCE OF SELF-REGULATION IMPAIRMENT/DEFICITS

● Mood/behavioural deficits
● Attention deficits
● Lack of impulse control

STEP 4 - EVIDENCE OF AN ADAPTIVE FUNCTION DEFICIT

● Communication impairment
● Social communication and interaction deficits
● Daily living skills deficit
● Motor skills deficit

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WHY IS IT IMPORTANT TO DIAGNOSE FASD EARLY ON?

1. Lessens the burden and impact of secondary disabilities
2. Improves life outcome
3. Focus on strengths instead of weaknesses
4. Prevention of future births with FASD

NEUROPSYCHOLOGICAL ASSESSMENT PROCESS

1. ALCOHOL CONSUMPTION
2. MEDICAL AND GENERAL HISTORY
3. COGNITIVE ASSESSMENT (a good approach would be a standard
battery because it tests all the cognitive domains)

Assessments need to consider these factors:

- Global impairment
- Age appropriate measures
- Complexity = severity
- Comorbidities and other psychiatric disorders
- Previous assessments
- Teacher reports (where necessary)

NEUROPSYCHOLOGICAL INTERVENTIONS
INTERVENTIONS NEED TO BE TWOFOLD AND DESIGNED SPECIFICALLY FOR
FASD - TWOFOLD - prevention and rehabilitation.

REHABILITATION FOR CHILDREN:

Includes:
- Pharmacological interventions
- Nutritional interventions
- Exercise interventions
- Cognitive and behavioural training

OUTCOMES OF FASD
● Global intellectual impairment

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● Learning deficits
● Memory deficits
● Executive functioning deficits
● Visual spatial deficits
● Mood/behavioural deficits
● Attention deficits
● Lack of impulse control
● Communication impairment
● Social communication and interaction deficits
● Daily living skills deficit
● Motor skills deficit

SECONDARY DISABILITIES OF FASD

➔ Fatigue
➔ Sleep disorders
➔ Tantrums
➔ Avoidance and withdrawal
➔ Mental health

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FASD AND THE JUSTICE SYSTEM

Individuals with FASD either end up as victims or offenders

WHY CAN THEY END UP AS OFFENDERS?

Because of their diminished cognitive capacity that causes them to:
- Be exploited and manipulated into partaking in a crime or admitting
to a crime they did not do
- They are unable to read social cues which can cause them to act
inappropriately which could cause them to get into trouble
- They also cannot control this inappropriate behaviour
- They experience difficulties in recognising risks and consequences of
these risks

HOW ARE THEY VICTIMISED?

- They are coerced to naively admit a crime that they did not commit
- Cannot participate in their own defence because of their cognitive
deficits
- Offenders victimise them during incarceration

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