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Impairment in two mechanisms of cognitive control in adolescents with chromosome 22q11.2 deletion syndrome

Joel Stoddard, Heather M. Shapiro, Joshua Cruz, Yukari Takarae, Tony J. Simon

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Abstract

• Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) (AKA VCFS/DiGeorge Syndrome) results from a microdeletion on the long arm of chromosome 22; occurs in ~1:4000 live births. • ~25% of those with 22q11.2DS will develop schizophrenia and more have schizoprhenia-related symptoms. • Cognitive control impairments found in chromosome 22q11.2 deletion syndrome (22q11.2DS) might be core to an endophenotype for its genetic risk for schizophrenia [1]. • A major dual mechanism theory of cognitive control distinguishes proactive from reactive control [2]. • Given the relationship between 22q11.2DS and schizophrenia, we expected there to be a specific impairment in reactive control [3]. INTRODUCTION

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What this paper is about

• Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) (AKA VCFS/DiGeorge Syndrome) results from a microdeletion on the long arm of chromosome 22; occurs in ~1:4000 live births. • ~25% of those with 22q11.2DS will develop schizophrenia and more have schizoprhenia-related symptoms. • Cognitive control impairments found in chromosome 22q11.2 deletion syndrome (22q11.2DS) might be core to an endophenotype for its genetic risk for schizophrenia [1]. • A major dual mechanism theory of cognitive control distinguishes proactive from reactive control [2]. • Given the relationship between 22q11.2DS and schizophrenia, we expected there to be a specific impairment in reactive control [3]. INTRODUCTION

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Available abstract

• Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) (AKA VCFS/DiGeorge Syndrome) results from a microdeletion on the long arm of chromosome 22; occurs in ~1:4000 live births. • ~25% of those with 22q11.2DS will develop schizophrenia and more have schizoprhenia-related symptoms. • Cognitive control impairments found in chromosome 22q11.2 deletion syndrome (22q11.2DS) might be core to an endophenotype for its genetic risk for schizophrenia [1]. • A major dual mechanism theory of cognitive control distinguishes proactive from reactive control [2]. • Given the relationship between 22q11.2DS and schizophrenia, we expected there to be a specific impairment in reactive control [3]. INTRODUCTION

Key concepts: DiGeorge syndrome, Endophenotype, Deletion syndrome, Microdeletion syndrome, Schizophrenia (object-oriented programming), Cognition, Chromosome 21, Medicine

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Impairment in two mechanisms of cognitive control in adolescents with chromosome 22q11.2 deletion syndrome — Research Paper | ScholarLens