Deletion Syndrome 22q11.2: A Systematic Review

Abstract

22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calcium deficits), the palate, the heart and the thymus. It is also known as DiGeorge syndrome or velocardiofacial syndrome, among other names, depending on the clinical presentation of each individual. The main objective of the review was to update information on DS 22q11.2 from publications in the scientific literature. The daily activities of these patients are seriously impaired, due to the impact of the clinical manifestations. Interventions can be performed to improve their social, cognitive and emotional skills, thus increasing their ability to perform different daily activities.

Congenital Athymia: Unmet Needs and Practical Guidance

“…Nevertheless, their medical complexity can be considered to amount to a primary determinant of unmet needs in society, contributing to disadvantage and burden. 82,83 As DGS patients mature, there is also the additional risk of mental health disorders, [84][85][86] which is not always disclosed to families until later in their child's development. 84,87,88 As discussed, under the umbrella diagnosis of DGS or other rare syndromes associated with congenital athymia, patients have multiple diagnoses, and while there are clinical and social support networks focused on the management of individual specialist areas, for example CHD, hypoparathyroidism, neurodevelopmental delay or autism, they may not be designed to support a patient with several co-morbidities, 89 increasing family burden to seek additional support elsewhere and in some cases, families report feeling the need to fight for services to help their child.…”

“…[104][105][106][107] Life for children with DGS, often examined in the context of the family unit due to developmental difficulties, is on a parallel 85,89,108 with increased challenges associated with the severity of symptoms, interventions required and paucity of support systems available. 86 Collectively, this suggests that syndromic patients with congenital athymia are expected to experience poorer HRQOL than their healthy peers. One initial study indeed reports that athymic children, receiving supportive care only, face significant burden across all HRQOL domains, resulting in lower HRQOL scores.…”

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Cinical Approach

“…The clinical features of the syndrome include hypoparathyroidism and hypocalcemia, thymic hypoplasia, conotruncal heart defects, facial dysmorphism, and palatoschisis. The complex phenotype of children affected with 22q11.2DS may show considerable intersubject variability and the expanded clinical manifestations comprise craniofacial, neurological, cognitive, behavioral, ocular, speech and hearing, musculoskeletal, and internal organs, such as airway, gastrointestinal or renal abnormalities as well [1]. The phenotypes may considerably vary among patients with immunodeficiency and immune dysregulation including autoimmunity, allergy, and lymphoproliferative sequelae.…”

“…The incidence of 22q11.2DS has been estimated to range from 1:3000 [2] to 1:4000 live births [1] placing it among frequent syndromic diseases. However, the rate of its clinical suspicion is still challenging and the process of establishing the definitive diagnosis is an odyssey [3] due to the Disclaimer/Publisher's Note: The statements, opinions, and data contained in all publications are solely those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s).…”

Challenges in Communicating a Genetic Diagnosis

“…In this Special Issue, the authors explain the complexity of diagnosing and communicating diagnoses of rare genetic entities, such as Noonan Syndrome, MECP2 duplication syndromes, Nieman-Pick type C disease, Pompe disease, hypohidrotic ectodermal dysplasia, retropharyngeal synovial cell carcinoma, 22q.11.2 deletion syndrome, and Pfeiffer syndrome [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 ].…”