ArticleEuropean journal of pediatrics2026
Navigating complexity: a retrospective review of pre-diagnostic healthcare trajectories of youth diagnosed with Fetal Alcohol Spectrum Disorder.
Article in European journal of pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Experts highlight the urgent need to increase clinical capacity for the early diagnosis and treatment of Fetal Alcohol Spectrum Disorder (FASD). FASD is a multifaceted and complex diagnosis that requires multidisciplinary care, yet few specialized clinics exist. Individuals often navigate the healthcare system for years before receiving a diagnosis. To better understand the pre-diagnostic healthcare trajectories of children and adolescents with FASD, this study aimed to describe the following: (i) the number and types of healthcare professionals consulted; and (ii) the number and types of medical diagnoses received prior to a FASD diagnosis. This retrospective descriptive study analyzed medical records from 155 patients diagnosed with FASD at the NB FASD Center of Excellence, a provincial specialized clinic in New Brunswick (Canada). Among the 155 youth included (63% male), the average age at diagnosis was 11.4 years (SD = 3.9). Patients had consulted a mean of 9.3 (SD = 3.9) HCPs and received a mean of 3.5 (SD = 2.3) medical diagnoses prior to FASD diagnosis. Males consulted significantly more healthcare professionals (HCPs) than females (p = 0.01), though no sex differences were found in age at diagnosis or number of diagnoses. The number of HCPs consulted ranged from 1 to 21.
conclusionThe findings highlight the extensive and varied pre-diagnostic healthcare journeys of youth with FASD. Despite growing policy attention, timely access to FASD diagnosis remains limited. These results underscore the need for earlier recognition, improved clinical training, and increased diagnostic capacity to reduce delays and support families more effectively. WHAT IS KNOWN: • Fetal Alcohol Spectrum Disorder (FASD) is underdiagnosed due to limited awareness, stigma, and diagnostic complexity. • Youth with FASD often experience delays in diagnosis and multiple misattributed comorbidities. WHAT IS NEW: • This is the first Canadian study to quantify pre-diagnostic healthcare encounters in youth with FASD while also illustrating the complexity of these trajectories through patient partner insights. • Findings show FASD is often excluded from differential diagnoses, revealing major gaps in clinical training and awareness.
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