Ann Swillen1. 1. aDepartment of Human Genetics bDepartment of Rehabilitation Sciences, KU Leuven cCenter of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
Abstract
PURPOSE OF REVIEW: The 22q11.2 deletion syndrome (velo-cardio-facial syndrome or DiGeorge syndrome) is the most common known contiguous gene deletion syndrome, and is associated with neurodevelopmental problems and diverse neuropsychiatric disorders across the life span. In this review, we discuss the wide variability in intelligence, the developmental phenotypic transitions regarding cognitive development (intelligence) from preschool to adolescence, and the importance of understanding these cognitive trajectories in 22q11.2 deletion syndrome for care/management and research. RECENT FINDINGS: Longitudinal data on the cognitive development of children and adolescents with 22q11.2 deletion syndrome reveal divergent cognitive trajectories. A decline in verbal intelligence quotient precedes the onset of psychosis in 22q11.2 deletion syndrome. SUMMARY: Understanding these cognitive trajectories is important since it can guide clinicians to develop adequate support, tailored remediation, and psychiatric care and individualized follow-up.
PURPOSE OF REVIEW: The 22q11.2 deletion syndrome (velo-cardio-facial syndrome or DiGeorge syndrome) is the most common known contiguous gene deletion syndrome, and is associated with neurodevelopmental problems and diverse neuropsychiatric disorders across the life span. In this review, we discuss the wide variability in intelligence, the developmental phenotypic transitions regarding cognitive development (intelligence) from preschool to adolescence, and the importance of understanding these cognitive trajectories in 22q11.2 deletion syndrome for care/management and research. RECENT FINDINGS: Longitudinal data on the cognitive development of children and adolescents with 22q11.2 deletion syndrome reveal divergent cognitive trajectories. A decline in verbal intelligence quotient precedes the onset of psychosis in 22q11.2 deletion syndrome. SUMMARY: Understanding these cognitive trajectories is important since it can guide clinicians to develop adequate support, tailored remediation, and psychiatric care and individualized follow-up.
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