RESUMEN
BACKGROUND: Despite several diagnostic guidelines, Fetal Alcohol Spectrum Disorders (FASDs) remain underdiagnosed or misdiagnosed, delaying the care of these patients and support for families. OBJECTIVE: This study aims to help professionals caring for these children and their families to suspect this diagnosis earlier and to provide the most appropriate follow-up. METHODS: A retrospective chart review with monocentric recruitment was performed at the Genetics Unit of the University Hospital of Reunion Island. A total of 147 children and adolescents with FASDs were included. RESULTS: Prenatal alcohol exposure was associated with paternal alcohol consumption in 42.9%, and a high rate of prematurity (33.3%) was observed. Sixty percent of children or adolescents were placed in foster families. Learning difficulties without cognitive deficits were found in 65.8% of cases (50/76). Postural control and fine motor skills disabilities were described, respectively, in 54.7% (35/64) and 72.5% (50/69) of cases. A systematic genetic assessment was carried out, identifying in these FASD patients an associated Copy Number Variation (CNVs) in 22.6% of cases. CONCLUSION: Children with FASDs combine significant vulnerabilities, associating exposure to alcohol during the preconception and/or the prenatal period, prematurity, complex familial and sociocultural living conditions, and a genetic anomaly in almost a quarter of cases.
RESUMEN
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.
RESUMEN
BACKGROUND: Fetal Alcohol Spectrum Disorders (FASD) are the most common cause of neurocognitive impairment and social inadaptation, affecting 1 birth in 100. Despite the existence of precise diagnostic criteria, the diagnosis remains difficult, often confounded with other genetic syndromes or neurodevelopmental disorders. Since 2016, Reunion Island has been a pilot region for the identification, diagnosis, and care of FASD in France. OBJECTIVE: To evaluate the prevalence and the types of Copy Number Variations (CNV) in FASD patients. METHODS: A retrospective chart review of 101 patients diagnosed with FASD in the Reference Center for developmental anomalies and in the FASD Diagnostic Center of the University Hospital was performed. Records of all patients were reviewed to obtain their medical history, family history, clinical phenotype, and investigations, including genetic testing (CGH- or SNP-array). RESULTS: A rate of 20.8% (n = 21) of CNVs was found including 57% (12/21) of pathogenic variants and 29% (6/21) of variants of uncertain signification (VUS). CONCLUSION: A particularly high number of CNVs was found in children and adolescents with FASD. It reinforces the plea for a multidisciplinary approach for developmental disorders to explore both environmental factors, such as avoidable teratogens and intrinsic vulnerabilities, especially genetic determinants.