Fetal Alcohol Spectrum Disorder (FASD)
Summary
Fetal Alcohol Spectrum Disorder (FASD) is an umbrella term for the range of physical, behavioural, and cognitive abnormalities that result from prenatal alcohol exposure. The most severe form, Fetal Alcohol Syndrome (FAS), is characterised by the classic triad of facial dysmorphism (smooth philtrum, thin upper lip, short palpebral fissures), growth restriction, and central nervous system dysfunction. FASD is the most common preventable cause of intellectual disability. There is no safe level of alcohol in pregnancy. Management focuses on early intervention, educational support, and addressing comorbid conditions. Prevention — through abstinence from alcohol in pregnancy — is key.
Key Facts
- Cause: Prenatal alcohol exposure (no safe level)
- Most Common Preventable ID: Leading preventable cause of intellectual disability
- Facial Features (FAS): Smooth philtrum, Thin upper lip, Short palpebral fissures
- Spectrum: FAS (most severe) → ARND (neurodevelopmental) → ARBD (birth defects)
- Management: Supportive (no cure); Early intervention improves outcomes
- Prevention: Avoid alcohol in pregnancy
Clinical Pearls
"Three Facial Features": Smooth philtrum, Thin upper lip, Short palpebral fissures — These are the sentinel features of FAS.
"No Safe Level": There is no known safe amount of alcohol during pregnancy. The safest approach is abstinence.
"The Hidden Disability": Many affected individuals don't have classic facial features but still have significant neurodevelopmental problems.
"Secondary Disability is Preventable": With early diagnosis and support, secondary problems (mental health, crime, substance use) can be reduced.
Prevalence
- 1-5% of population (estimated)
- FAS: 1-2 per 1000 live births
- Higher in populations with higher alcohol use
Risk Factors
| Factor | Notes |
|---|---|
| Amount of alcohol | Higher consumption = higher risk |
| Timing | First trimester most dangerous for facial features |
| Pattern | Binge drinking particularly harmful |
| Maternal factors | Older age, poor nutrition, smoking |
Mechanism
- Alcohol crosses placenta freely
- Fetus cannot metabolise alcohol effectively
- Alcohol is teratogenic to developing brain and tissues
Effects by Timing
| Trimester | Primary Effects |
|---|---|
| First | Facial features, Major organ defects |
| Second | Brain development, Growth |
| Third | Brain development, Growth |
Brain Effects
- Microcephaly
- Agenesis of corpus callosum
- Cerebellar hypoplasia
- Neuronal migration defects
Fetal Alcohol Syndrome (FAS) — Full Criteria
| Feature | Description |
|---|---|
| Facial dysmorphism | Smooth philtrum (Likert 4-5), Thin upper lip (Likert 4-5), Short palpebral fissures |
| Growth restriction | Prenatal and/or postnatal (height/weight <10th centile) |
| CNS dysfunction | Microcephaly, Structural brain abnormalities, Neurological signs |
| Neurodevelopmental | Learning difficulties, ADHD, Speech delay |
Other FASD Categories
| Category | Features |
|---|---|
| Partial FAS | Some facial features + CNS involvement |
| ARND (Alcohol-Related Neurodevelopmental Disorder) | CNS/behavioural issues without full facial features |
| ARBD (Alcohol-Related Birth Defects) | Organ defects (heart, kidneys) |
Neurobehavioural Features
Anthropometrics
- Height, Weight, Head circumference — often <10th centile
Facial Examination
- Short palpebral fissures (measured)
- Smooth philtrum (use Lip-Philtrum Guide Likert scale)
- Thin vermillion border of upper lip
Other
- Cardiac murmur (VSD, ASD)
- Skeletal abnormalities
- Renal anomalies
Neurodevelopmental Assessment
- Cognitive testing
- Speech and language
- Motor function
- Behavioural assessment
Diagnosis is Clinical
- No blood test or scan diagnoses FASD
- Requires multidisciplinary assessment
Supportive Tests
| Test | Purpose |
|---|---|
| Cardiac echo | Congenital heart defects |
| Renal ultrasound | Renal anomalies |
| MRI brain | Structural brain abnormalities |
| Audiology | Hearing problems common |
| Ophthalmology | Visual defects |
Confirmed Maternal Alcohol Exposure
- History from mother, records, social services
- May not always be available
Management Approach
┌──────────────────────────────────────────────────────────┐
│ FASD MANAGEMENT │
├──────────────────────────────────────────────────────────┤
│ │
│ NO CURE — EARLY INTERVENTION IS KEY │
│ │
│ EDUCATIONAL SUPPORT: │
│ • EHCP (Education, Health and Care Plan) │
│ • Specialist educational provision │
│ • Visual learning, concrete examples │
│ • Consistent routine │
│ │
│ THERAPIES: │
│ • Speech and Language Therapy │
│ • Occupational Therapy (sensory processing) │
│ • Behavioural support │
│ │
│ MEDICAL: │
│ • Treat ADHD (stimulants — BEWARE! May work differently)│
│ • Treat comorbid mental health (anxiety, depression) │
│ • Manage physical comorbidities │
│ │
│ FAMILY SUPPORT: │
│ • Parent training and education │
│ • Respite care │
│ • Support groups (FASD Network UK, NOFAS) │
│ │
│ TRANSITION: │
│ • Adult services │
│ • Supported living if needed │
│ • Employment support │
│ │
└──────────────────────────────────────────────────────────┘
Primary (Due to FASD)
- Intellectual disability
- Learning difficulties
- Behavioural problems
Secondary (Preventable with Early Intervention)
- Mental health problems (depression, anxiety)
- School failure
- Unemployment
- Substance misuse
- Trouble with the law
- Inappropriate sexual behaviour
- Homelessness
With Early Diagnosis and Support
- Better outcomes
- Fewer secondary disabilities
Without Support
- High rates of secondary disability
- Poor quality of life
Lifelong
- FASD is permanent
- Many adults live independently with support
- Some need lifelong care
Key Guidelines
- BMA: Fetal Alcohol Spectrum Disorders: A Guide for Healthcare Professionals (2020)
- SIGN: Children and Young People Exposed Prenatally to Alcohol (2019)
Key Evidence
Prevention
- No safe level of alcohol in pregnancy
- Public health messaging important
What is FASD?
Fetal Alcohol Spectrum Disorder (FASD) is a group of conditions caused by drinking alcohol during pregnancy. Alcohol can harm a baby's brain and body while it's developing.
What Are the Signs?
- Unusual facial features (smooth area between nose and lip, thin upper lip, small eyes)
- Smaller height and head size
- Learning and behaviour difficulties
- ADHD, Impulsiveness
- Trouble with memory and social skills
Is There a Cure?
There is no cure, but early support can make a big difference. Children with FASD can do well with the right help at school and home.
What Help is Available?
- Speech therapy, Occupational therapy
- Special educational support
- Medication for ADHD if needed
- Support for parents and carers
How Can It Be Prevented?
The safest approach is to avoid alcohol completely during pregnancy. There is no known safe amount.
Primary Guidelines
- British Medical Association. Fetal Alcohol Spectrum Disorders: A Guide for Healthcare Professionals. 2020.
- SIGN. Children and Young People Exposed Prenatally to Alcohol: A National Clinical Guideline. 2019.
Key Studies
- Hoyme HE, et al. Updated clinical guidelines for diagnosing fetal alcohol spectrum disorders. Pediatrics. 2016;138(2):e20154256. PMID: 27464676