Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome

Children with congenital heart disease (CHD) who survive surgery often present impaired neurodevelopment and qualitative brain anomalies. However, the impact of CHD on total or regional brain volumes only received little attention. We address this question in a sample of patients with 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition frequently associated with CHD. Sixty-one children, adolescents, and young adults with confirmed 22q11.2 deletion were included, as well as 80 healthy participants matched for age and gender. Subsequent subdivision of the patients group according to CHD yielded a subgroup of 27 patients with normal cardiac status and a subgroup of 26 patients who underwent cardiac surgery during their first years of life (eight patients with unclear status were excluded). Regional cortical volumes were extracted using an automated method and the association between regional cortical volumes, and CHD was examined within a three-condition fixed factor. Robust protection against type I error used Bonferroni correction. Smaller total cerebral volumes were observed in patients with CHD compared to both patients without CHD and controls. The pattern of bilateral regional reductions associated with CHD encompassed the superior parietal region, the precuneus, the fusiform gyrus, and the anterior cingulate cortex. Within patients, a significant reduction in the left parahippocampal, the right middle temporal, and the left superior frontal gyri was associated with CHD. The present results of global and regional volumetric reductions suggest a role for disturbed hemodynamic in the pathophysiology of brain alterations in patients with neurodevelopmental disease and cardiac malformations

Monitoring of self-generated speech in adolescents with 22q11.2 deletion syndrome

OBJECTIVES: The present report examines the monitoring of self-generated speech in adolescents with 22q11.2 deletion syndrome (22q11DS), a neurogenetic disorder associated with very high risk for psychosis. DESIGN: Between-participant group design. METHODS: In this study, 20 adolescents with 22q11DS, 19 age- and IQ-matched controls, and 19 typically developing adolescents were enrolled. Participants completed a speech-monitoring task, in which they were asked to silently or overtly read a series of word and non-word items. Subjects then filled out a recognition sheet containing studied and novel items. They were asked to identify the previously studied item, and to attribute the reading condition (silent vs. overt) under which each recognized item was encoded. RESULTS: Adolescents with 22q11DS commit more external attribution errors compared to both control groups, by exhibiting an increased tendency to report silently read items as though they had been read overtly. Further, results suggest that increased cognitive effort exacerbates the external attribution tendency in adolescents with 22q11DS. Increased internal attributions were also observed in the IQcontrol and 22q11DS groups in comparison to typically developing adolescents. CONCLUSIONS: Similarly to adult individuals exhibiting positive symptoms of psychosis, adolescents with 22q11DS exhibit an external attribution bias for inner speech. This bias seems to be exacerbated by increased cognitive effort, suggesting a failure to recollect information pertaining to cognitive operations during self-monitoring. Cognitive biases associated to schizophrenia may be detected in adolescents at very high risk for psychosis. These observations provide further evidence for the presence of an external attribution bias along the clinical continuum of psychosis vulnerability