RESUMO
Introduction: Fetal alcohol exposure is the most common preventable cause of non-genetic intellectual disability. Fetal Alcohol Syndrome (FAS) is characterized by intellectual disability and distinctive facial features and affects 0.1% of live births, representing approximately 800 cases per year in France. Fetal Alcohol Spectrum Disorder (FASD) are 10 times more common than FAS, with an estimated 8,000 cases per year, and are associated with behavioral and social maladjustment in both children and adults, as well as various malformations. General practitioners play a key role in preventing and identifying FASD through their involvement in pregnancy and child monitoring. Methods: Qualitative study using the Delphi method. Items were developed from the literature and semi-structured interviews with field professionals and health institutions. A panel of multi-professional experts, mostly general practitioners, was recruited. Results: 24 initial actions were submitted to the experts. At the end of the first round, six actions reached a consensus and six were reformulated for the second round. At the end of the second round, three actions reached a consensus, for a total of 11 consensus actions. Four of these actions seem particularly relevant for rapid implementation, namely systematic proposal of pre-conceptional consultations for women planning pregnancy, systematic identification of environmental factors during child monitoring, systematic distribution of information on fetal alcohol exposure during pre-conception or early pregnancy, and the publication of a leaflet for general practitioners on the identification of children with FAS or FASD and the contact details of relevant associations. Conclusion: Prevention and identification of FASD can be improved through short and general training supports for general practitioners. Early screening of FASD is crucial for children, and should be maintained throughout their monitoring. This study could be used for communication and dissemination of information based on the consensus obtained.
RESUMO
BACKGROUND: Fetal Alcohol Spectrum Disorder (FASD) is the leading cause of non-genetic intellectual disability and social maladjustment in children. International guidelines recommend abstinence from alcohol during pregnancy. Réunion is the most affected of all French regions with an estimated Fetal Alcohol Spectrum (FAS) prevalence of 1.2 births. General practitioners (GPs) are at the forefront of identifying patients with FASD. OBJECTIVE: To understand how GPs identify FASD. METHODS: Qualitative study using a grounded theory approach, through semi-structured face-to-face interviews with GPs. Interviews were conducted with the aim of reaching theoretical saturation. These were transcribed verbatim and then analyzed by four researchers to ensure triangulation of the data. RESULTS: GPs reported barriers to the identification of FASD: challenges in overcoming social taboos and paradoxical injunctions, the influence of limited knowledge and experience, non-specific and highly variable symptoms, ambiguous classification and method of diagnosis involving the mobilization of a multidisciplinary team and lengthy consultations. Conversely, they felt competent to identify neurodevelopmental disorders of any cause, but were concerned about the long waiting time to access specialized care. From the perspective of GPs, it is crucial to prioritize promotion and training aimed at improving the identification and coordination of care pathways for children diagnosed with neurodevelopmental disorders, such as FASD.