Background: Over 60% Australian women report alcohol use in pregnancy and FASD is recognised as an adverse consequence. We aimed to describe the epidemiology of FASD in Australia.

Methods: National prospective surveillance for FASD using the Australian Paediatric Surveillance Unit. Monthly reporting by ~1500 paediatricians (January 2015-30 Dec 2022). Reported data include demographics, physical and behavioural phenotype, neurodevelopmental profile and service use of newly diagnosed cases. Cases were classified using criteria in the Australian Guide to the Diagnosis of FASD and included in the FASD Australian Registry (FASDAR).

Results: Of 1359 notified cases, 1011 were confirmed after excluding duplicates/ineligible cases (incidence 2.7/105 <15 years/annum) and rate increased over time (p<0.0001). Mean age at diagnosis was 8.5y (1-14.9y), 67% were boys, 55% Aboriginal and/or Torres Strait Islander, 19% had a sibling with FASD. Most came from Western Australia (28%), Queensland (24%) and NSW (23%), 21% from remote/very remote regions. Only 22% lived with a biological parent, 74% had child protection contact, and prenatal alcohol exposure (PAE) was high risk in 89%. Most (80%) were diagnosed in a multi-disciplinary FASD assessment clinic; all diagnoses involved a paediatrician.

Only 17% had all 3 sentinel facial features (small palpebral fissure length, flat philtrum, thin upper lip), 18% had microcephaly, 17% had major (brain, heart) or minor (clinodactyly, ptosis, and epicanthic folds) congenital anomalies. All had severe neurodevelopmental impairment in ≥3 domains, commonly attention (80%), executive functioning (76%), adaptive behaviour (72%), and language (66%). Co-morbidities included complex early life trauma, sleep disorder, Autism Spectrum Disorder, anxiety and hearing loss. Chromosome microarray revealed rare copy number variant in 24%, some pathogenic. No child had Fragile-X.

Conclusion: FASDAR provides unique, current, national Australian data on FASD to inform policy and practice. They indicate need for capacity-building in clinicians, screening of high-risk groups and evidence-based prevention strategies.

Keywords: Fetal Alcohol Spectrum Disorder, epidemiology, phenotype