Fetal Alcohol Spectrum Disorder (FASD) is a complex neurodevelopmental condition caused by prenatal alcohol exposure, encompassing a range of disorders including Fetal Alcohol Syndrome (FAS), partial FAS, alcohol-related neurodevelopmental disorder, and alcohol-related birth defects. It affects brain development and leads to lifelong cognitive, behavioral, and physical challenges. Despite its significant prevalence worldwide—estimated at about 7.7 per 1000 individuals globally and up to 19.8 per 1000 in Europe—FASD remains widely underdiagnosed and often misdiagnosed as other neurodevelopmental disorders such as autism spectrum disorder (ASD) or attention deficit hyperactivity disorder (ADHD)[5].
One of the critical issues in understanding FASD is its frequent misdiagnosis or conflation with autism. Research from Ireland, which has one of the highest rates of FASD globally (between 2.8% and 7.4% of the population, up to ten times the global average), highlights that many individuals with FASD are initially diagnosed with autism or ADHD instead of receiving an accurate FASD diagnosis[1][2][4]. This misdiagnosis stems from overlapping symptoms such as difficulties with social interaction, communication challenges, attention deficits, and behavioral problems, which are common to both FASD and autism.
The diagnostic challenge is compounded by the lack of clear diagnostic pathways and support services for FASD in many health systems, including Ireland’s. The stigma attached to FASD, often focused on blaming mothers for alcohol consumption during pregnancy, discourages families from seeking help and obstructs proper diagnosis. This stigma also perpetuates misinformation about the disorder[1][2][4]. Moreover, there is a significant gender bias in the discourse around FASD, with paternal alcohol consumption before conception largely overlooked despite evidence that it can contribute to FASD-related outcomes. Studies have shown that paternal drinking can cause genetic and epigenetic changes affecting fetal development, including craniofacial abnormalities and microcephaly, which are features associated with FASD[3].
Socioeconomic factors also influence diagnosis. Children from lower socioeconomic backgrounds are more likely to be diagnosed with FASD, while those from higher socioeconomic groups may receive alternative diagnoses such as autism or ADHD. This suggests that social assumptions and biases, rather than purely biological differences, affect diagnostic outcomes[3]. It is also possible for individuals to have multiple co-occurring diagnoses, such as FASD alongside autism or ADHD, further complicating clinical identification.
The overlap in symptoms between FASD and autism includes:
– Social communication difficulties
– Sensory processing issues
– Executive functioning deficits
– Behavioral challenges such as impulsivity or hyperactivity
However, FASD often presents with additional physical features (e.g., distinct facial characteristics) and neurodevelopmental impairments linked specifically to prenatal alcohol exposure, which are not typical in autism[5].
The under-recognition of FASD within autism diagnoses has significant implications. Without accurate diagnosis, individuals with FASD may not receive appropriate interventions tailored to their unique needs, which differ from those for autism. For example, interventions for FASD often require a focus on managing executive function deficits, memory problems, and adaptive skills, alongside addressing behavioral and social challenges[4].
Efforts to improve diagnosis include developing biomarkers for FASD, such as serum protein profiles identified through machine learning techniques
