Neurodevelopmental outcome in 22q11.2 deletion syndrome and management. Issue 10 (25th April 2018)

• Record Type: Journal Article
• Authors: Swillen, Ann; Moss, Edward; Duijff, Sasja
• Other Names: McDonald‐McGinn Donna M. guestEditor.
• Is Part Of: American journal of medical genetics. Volume 176:Issue 10(2018)
• Page Start: 2160
• Page End: 2166
• Publication Date: 2018-04-25
• Subjects: 22q11.2 DS -- contributing factors -- neurodevelopmental outcome -- practice and management; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38709
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : The 22q11.2 deletion syndrome (22q11.2 DS) places affected individuals at an increased risk for neurodevelopmental/cognitive, behavioral and social–emotional difficulties. Poor cognitive functioning and intellectual disabilities, attention and executive functioning deficits, learning disorders, emotional dysregulation and impairments in social processing are common among individuals with 22q11.2 DS. Identifying risk and protective/resilience factors that can be detected in early life and can predict neurodevelopmental outcomes for people with 22q11.2 DS is of significant clinical relevance and might allow for early detection and intervention. Given the focus of this review, we will discuss the possible contributing factors that influence the neurodevelopmental outcome in 22q1.2 DS, the cognitive phenotype in 22q11.2 DS, the different developmental trajectories across life span, and the implications for clinical practice and management.