Artículos de revistas
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Fecha
2015Registro en:
Genetics in Medicine, August 2015, vol.17, n°8, p.599–609
Autor
Fung, Wai Lun
Butcher, Nancy
Costain, Gregory
Andrade, Danielle
Boot, Erik
Chow, Eva
Chung, Brian
Cytrynbaum, Cheryl
Faghfoury, Hanna
Fishman, Leona
García-Miñaúr, Sixto
George, Susan
Lang, Anthony
Repetto, Gabriela
Shugar, Andrea
Silversides, Candice
Swillen, Ann
Van Amelsvoort, Therese
McDonald-McGinn, Donna
Bassett, Anne
Institución
Resumen
22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities.