An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis

Isabela Mayá Wayhs Silva,Vera Lúcia Gil-Da-Silva-Lopes

doi:10.1186/s13023-022-02225-9

Isabela Mayá Wayhs Silva, Vera Lúcia Gil-Da-Silva-Lopes

Open Access

https://doi.org/10.1186/s13023-022-02225-9

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Abstract

Background22q11.2 deletion syndrome (22q11.2DS) is a rare disease with an important characteristic—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 these clinical signs as belonging to 22q11.2DS. Updated professionals are equally important for the appropriate and timely clinical management of individuals with a positive diagnosis. In this context, this article aimed to map and analyze the access to healthcare for individuals with 22q11.2DS until the moment of diagnosis.ResultsWe analyzed the 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 at a median age of 9 years (mean = 9.7 years). Before the genetic investigation, they accessed 68.75% of the internationally recommended evaluations available at BDCA. Recurrent 22q11.2DS clinical manifestations such 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 lowered the median diagnostic age, corresponding to 6.5 years of age with a cardiac malformation versus 11 years of age without one (p = 0.0006).ConclusionsIn Brazil, 22q11.2 DS is under-recognized, and early diagnosis and management of affected individuals are still a distant reality. In this sense, 22q11.2 DS suspicion followed by the elimination of obstacles for its diagnosis confirmation is essential to increase life expectancy and improve the quality of life of these individuals in Brazil.

Highlights

The 22q11.2 deletion syndrome (22q11.2DS) is a rare genetic disease
We analyzed the primary data of 111 individuals with 22q11.2DS, from Brazilian Database on Craniofacial Anomalies (BDCA), linked to Brazil’s Craniofacial Project (BCFP) [14, 19]
Considering the continental dimensions of Brazil and the key access to health for the population being through SUS [22], it is essential to seek strategies that facilitate suspicion, investigation and management of this clinical condition

Summary

Introduction

The 22q11.2 deletion syndrome (22q11.2DS) is a rare genetic disease. It has an estimated incidence among different populations of 1:3000 to 1:6000 among live births, which ranks it as the most frequent microdeletion in humans [1, 2].The first and most frequent clinical manifestations in 22q11.2DS are the dysmorphic features, hypocalcemia, and/or hypoparathyroidism, neuropsychomotor developmental delay (NPMDD) and heart and lip/palate defects. The 22q11.2 deletion syndrome (22q11.2DS) is a rare genetic disease. It has an estimated incidence among different populations of 1:3000 to 1:6000 among live births, which ranks it as the most frequent microdeletion in humans [1, 2]. The first and most frequent clinical manifestations in 22q11.2DS are the dysmorphic features, hypocalcemia, and/or hypoparathyroidism, neuropsychomotor developmental delay (NPMDD) and heart and lip/palate defects. From the first year of life until preadolescence, delayed speech acquisition or hypernasal voice and behavioral alterations such as anxiety, attention deficit, hyperactivity, socialization problems and learning difficulties are common. Neuropsychiatric disorders such as bipolar disorder, schizophrenia, anxiety and intellectual disability are recurrent and can interfere or limit their social integration [3,4,5].

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