An Overview of the Trajectory of Brazilian Individuals with 22q11.2 Deletion Syndrome Until Diagnosis.

Abstract Background: 22q11.2 Deletion Syndrome (22q11.2DS) is a rare disease that has as an important characteristic the clinical heterogeneity. The diversity of organs, regions, and systems of the body that can be affected requires periodic updating of health professionals so that they can recognize this clinical signs as belonging to 22q11.2DS. Updated health professionals are equally important for the appropriate and timely establishment of clinical management for individuals with a positive diagnosis. In this context, this article aimed to map and analyse the access to health care for individuals with 22q11.2DS until the moment of diagnosis. Results: We analysed clinical data of 111 individuals with 22q11.2DS registered in the Brazilian Database on Craniofacial Anomalies (BDCA) from 2008 to 2020. In this study, individuals were diagnosed with a median age of 9 years (mean = 9.7 years). Before genetic investigation, they accessed 68.75% of the international recommended evaluations available at BDCA. Recurrent 22q11.2DS clinical manifestations as delayed neuropsychomotor development, lip and/or palate defects, cardiac malformation and/or hematological/immunological alteration co-occurred in at least 72.06% of individuals. Cardiac malformation was the only clinical alteration that led to a lower median diagnostic age, corresponding to 6.5 years of age with a cardiac malformation versus 11 years of age without a cardiac malformation (p = 0.0006). Conclusions: In Brazil, 22q11.2 DS is under recognized and early diagnosis and management of affected individuals are still a distant reality. In this sense, the identification followed by the correction of obstacles that do not allow this reality are essential to increase life expectancy and improve the quality of life of these individuals in Brazil