The importance of understanding cognitive trajectories: the case of 22q11.2 deletion syndrome

Current Opinion in Psychiatry
A Swillen

Abstract

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. 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. 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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Citations

Sep 9, 2018·American Journal of Medical Genetics. Part a·Ania M FiksinskiJacob A S Vorstman
Apr 27, 2018·American Journal of Medical Genetics. Part a·Ann SwillenSasja Duijff
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Jul 28, 2021·Developmental Neuropsychology·Andrea WierzchowskiVeronica Bordes Edgar
Apr 25, 2020·Pediatrics·Monica H WojcikJonathan S Litt

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22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.