View clinical trials related to 22q11 Deletion Syndrome.
Filter by:This is a Phase 2, randomized, placebo-controlled crossover trial to assess the safety and efficacy of NB-001 in children and adolescents with 22q11DS that manifest commonly associated neuropsychiatric conditions.
22q11.2 microdeletion seems the prenatally under-diagnosed . Indeed , there is a mismatch between the series on the heart rate of 22q11.2 antenatal 84% against 30% in the adult series despite a perinatal mortality of 16% suggesting opportunities for improvement in the prenatal diagnosis of fetus with a microdeletion 22q11.2 , especially without heart disease
Background: The present study aims to identify the mechanisms underlying the deficit in facial emotion recognition reported both in schizophrenia and the 22q11.2 deletion syndrome, and thus, reveal a distinction between the two disorders. Indeed, despite the clinical overlap between the two syndromes, some of the symptoms appear to be specific to only one of them. In particular, the disturbance of visual functions is specifically observed in the 22q11.2DS. Hence, the difficulties in facial emotion recognition in schizophrenia and in the 22q11.DS are likely accounted by different cognitive impairments. Investigating which mechanisms are disturbed would allow a specialized support for patients. Our main hypothesis is that the deficit in facial emotion recognition is more related to visual impairments in the 22q11.2DS than in schizophrenia. This hypothesis will be tested in two groups of patients (22q11.2DS and schizophrenic patients) and a control group (healthy subjects) using an experimental paradigm based on electroencephalography (EEG). A second aim of this study is to determine whether the severity of the two disorders' symptoms is correlated with the cerebral response to facial expressions. To answer this question, a set of clinical and neuropsychological tests will be conducted for each patient.
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and elect Panorama microdeletion and aneuploidy screening as part of their routine care. The primary objective is to evaluate the performance of Single Nucleotide Polymorphism (SNP)-based Non Invasive Prenatal Testing (NIPT) for 22q11.2 microdeletion (DiGeorge syndrome) in this large cohort of pregnant women. This will be done by performing a review of perinatal medical records and obtaining biospecimens after birth to perform genetic diagnostic testing for 22q11.2 deletion. Results from the follow-up specimens will be compared to those obtained by the Panorama screening test to determine test performance. Specific test performance parameters will include: PPV, specificity, and sensitivity.