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Foetal Alcohol Spectrum Disorder

Foetal Alcohol Spectrum Disorders (FASDs) are a group of conditions that occur in individuals exposed to alcohol during gestation due to maternal alcohol consumption during pregnancy.

The spectrum includes several forms, from the most severe, Foetal Alcohol Syndrome (FAS), to less severe conditions such as partial foetal alcohol syndrome (pFAS), alcohol-related neurodevelopmental disorder (ARND), and neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE).

Baby with foetal alcohol syndrome, showing some of the characteristic facial features
Baby with foetal alcohol syndrome, showing some of the characteristic facial features

Signs and Symptoms

FASDs exhibit a range of symptoms and complications. Key signs of Foetal Alcohol Syndrome (FAS) include growth deficiency, congenital malformations of the lips, and nervous system damage. Common signs are:

  • Abnormal appearance
  • Short height
  • Low body weight
  • Small head size
  • Poor coordination
  • Behaviour problems similar to ADHD
  • Learning and speech problems
  • Intellectual disability

Complications for babies can include miscarriage, stillbirth, and preterm birth, while adults may face issues like alcoholism and substance abuse.

Facial characteristics of a child with FAS
Facial characteristics of a child with FAS

Causes

FASDs are caused by alcohol consumption during pregnancy. The risk increases with the amount and frequency of alcohol intake, particularly binge drinking. Blood alcohol concentration and drinking patterns play significant roles. Alcohol crosses the placenta, affecting the developing foetus, especially the nervous system. Factors such as advanced maternal age, smoking, and poor diet can exacerbate the effects.

Foetal alcohol syndrome mechanism
Foetal alcohol syndrome mechanism: 1) Alcohol consumed (EtOH) 2) Alcohol crosses into the placenta 3) Alcohol metabolises 4) Fatty acid ethyl esters (FAEE) detected in meconium

Diagnosis

Diagnosis of FASDs is based on signs and symptoms, along with evidence of alcohol exposure during pregnancy. The main diagnostic criteria include growth deficiency, distinctive facial features, and central nervous system damage. Several diagnostic systems exist, such as the Institute of Medicine's guidelines, the University of Washington's 4-Digit Diagnostic Code, and the Canadian guidelines.

Diagnostic Criteria

  • Foetal Alcohol Syndrome (FAS):
    1. Prenatal or postnatal height or weight at or below the 10th percentile.
    2. All three characteristic facial features.
    3. Clinically significant structural, neurological, or functional impairment of the CNS.
    4. Confirmed or unknown prenatal alcohol exposure.
  • Partial Foetal Alcohol Syndrome (pFAS):
    1. Two or three FAS facial features.
    2. Clinically significant structural, neurological, or functional impairment in three or more of the Ten Brain Domains.
    3. Confirmed prenatal alcohol exposure.
  • Alcohol-Related Neurodevelopmental Disorder (ARND) and Static Encephalopathy:
    1. Minimal or no FAS facial features.
    2. Clinically significant structural, neurological, or functional impairment in three or more of the Ten Brain Domains.
    3. Confirmed prenatal alcohol exposure.

Biomarkers

Biomarkers like fatty acid ethyl esters (FAEE) in meconium are being studied but are not yet reliable for diagnosing prenatal alcohol exposure.

Prevention

Almost all experts recommend that women abstain from alcohol during pregnancy and while trying to conceive. This is endorsed by major health organisations such as the Surgeon General of the United States, the Centres for Disease Control, and the World Health Organisation. Warning labels on alcoholic beverages have been mandated in the United States since 1988.

A label on alcoholic drinks promoting zero alcohol during pregnancy
A label on alcoholic drinks promoting zero alcohol during pregnancy

Treatment

Though there is no cure for FASDs, treatment can improve outcomes. Treatment approaches include behavioural interventions, medications, and advocacy models.

Medications

Psychoactive drugs may be used to treat specific symptoms, such as antidepressants, stimulants, neuroleptics, and anti-anxiety drugs. However, medications should be used cautiously, especially during pregnancy.

Behavioural Interventions

Early intervention from birth to age three can improve outcomes. Interventions include parent-child interaction therapy, efforts to modify child behaviour, and educational support. Behavioural interventions are essential for managing symptoms such as ADHD and ODD.

Advocacy Model

The advocacy model involves an advocate who helps mediate between the environment and the individual with FASD. This model supports the development and attainment of goals and ensures that individuals receive appropriate accommodations and interventions.

Smooth philtrum seen on a six-month-old baby with FAS
Smooth philtrum seen on a six-month-old baby with FAS

Prognosis

The prognosis for FASD varies. Primary disabilities, such as learning impairments and ADHD, arise from CNS damage. Secondary disabilities, like mental health problems and trouble with the law, emerge over time due to environmental mismatches. Protective factors, such as early diagnosis and stable living situations, can reduce the incidence of secondary disabilities.

Epidemiology

FASDs affect various populations differently. Globally, one in ten women drink alcohol during pregnancy. Countries with high prevalence rates include Ireland, Belarus, Denmark, the UK, and the Russian Federation. FASDs are more common among indigenous populations in Australia and certain populations in South Africa. In the United States, alcohol use during pregnancy is common, with FASD affecting an estimated 1-5% of the population.


Self-assessment MCQs (single best answer)

What is the most severe form of Foetal Alcohol Spectrum Disorders (FASDs)?



Which of the following is NOT a common sign of Foetal Alcohol Syndrome (FAS)?



What are fatty acid ethyl esters (FAEE) detected in, as a potential biomarker for prenatal alcohol exposure?



What is a key recommendation from health organisations to prevent FASDs?



Which of the following facial features is associated with FAS?



Which of the following is NOT a diagnostic criterion for Foetal Alcohol Syndrome (FAS)?



Which treatment approach involves an advocate who helps mediate between the environment and the individual with FASD?



Which global region has a particularly high prevalence of alcohol consumption during pregnancy?



What kind of complications can arise for babies with FASDs?



Which factor does NOT exacerbate the effects of alcohol exposure during pregnancy?



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