Diagnosing Foetal Alcohol Spectrum Disorder

Foetal Alcohol Spectrum Disorder (FASD) has clinical diagnostic criteria that are validated and supported by the scientific literature and various international institutions (WHO, DSM-IV-TR, Institute of Medicine [IOM], Canadian Medical Association, etc.). Based on these criteria, four different clinical forms have been defined for children with impairments resulting from prenatal alcohol exposure as part of the FASD spectrum:

• Foetal Alcohol Syndrome (FAS), when the child presents most of the aforementioned signs and symptoms.
• Partial Foetal Alcohol Syndrome (pFAS) if any of these are not present.
• Alcohol-related neurodevelopmental disorder (ARND) if there is only a history of use and neurocognitive and behavioural impairment.
• Alcohol-related birth defects (ARBD) if there is only a history of consumption and any of the congenital malformations associated with drinking alcohol during pregnancy.

One of the most important issues in the diagnostic assessment of FASD is that it requires reliable documentation of the diagnostic criteria, such as a confirmed history of alcohol consumption during pregnancy. It is also necessary that an expert assessment of physical signs is conducted by a healthcare professional (a general practitioner, a paediatrician, a geneticist, a dysmorphology specialist, etc.), as well as an expert assessment of neuropsychological and behavioural signs performed by a mental health professional (a psychologist, a neuropsychologist, etc.).

Accordingly, the existence of clinical practice guidelines for the diagnosis of FASD for professionals, the implementation of specific training activities and the use of innovative approaches such as artificial intelligence are particularly important.

FASD screening is indicated in children when:

• There is the certainty or suspicion that the mother consumed alcohol during the pregnancy.
• The child was adopted from a country with high rates of alcohol consumption during pregnancy (for example Eastern European countries).
• There are signs and symptoms that are cause for suspected FASD.