View clinical trials related to 22q11.2 Deletion Syndrome.
Filter by:Rationale: Despite several decades of research, the exact etiology of adolescent idiopathic scoliosis (AIS) remains unclear. In AIS, spine curvature begins with and progresses during the adolescent growth spurt. Previous studies are only performed on populations with already established scoliosis and normal spinal growth (of bone and IVD tissue) during adolescence has also not been defined. Growth pattern differences may exist between scoliotic and nonscoliotic subjects. Previous studies support the hypothesis that AIS is a spinal deformity that starts with decompensation in the IVD and is linked to sagittal spinal alignment. However, to understand its cause and pathogenic mechanism, the changes to the adolescent spine must be assessed longitudinally during the growth period coinciding with the period prior to and during the onset of AIS. Ideally this should include a cohort who do and do not develop AIS and their assessment must be minimally harmful, without radiation exposure. Certain populations are at increased risk for scoliosis development (i.e. girls with family members with scoliosis and 22q11.2DS patients). New imaging modalities (boneMRI, 3D spinal ultrasound) allow for non-radiographic monitoring of spinal growth.
Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with a high risk of psychiatric disorders, including schizophrenia spectrum disorders. This population is characterized by a specific neurocognitive profile and atypical brain development. Methylphenidate is a psychostimulant used in the treatment of attention deficit with/without hyperactivity (ADHD). Although ADHD is one of the most important co-morbidities in 22q11DS, affecting 35-45% of patients, to date only two studies have focused on quantifying the efficacy of this treatment in this population. The objective of this study is to quantify the improvement in cognitive performance as well as the differences in brain connectivity associated with the methylphenidate molecule in a population at risk of cognitive impairment and the development of schizophrenia.
Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with a high risk of psychiatric disorders, including schizophrenia spectrum disorders. This population is characterized by a particular neurocognitive profile and atypical brain development. Risperidone is a second-generation antipsychotic, inhibitor of dopaminergic receptors. Used in the treatment of psychosis, risperidone is frequently prescribed in 22q11DS, for example to treat a psychotic episode. Research on an animal model of 22q11DS (LgDel+/- mice) shows that administering an antipsychotic for 12 days during a critical period of brain development (adolescence) prevents deleterious neuronal changes and improves behavioral performance in mice. The aim of this study is therefore to replicate the results found in mice and to identify a long-term neuroprotective effect. This study is inspired on the one hand by the families who share with us the difficulties of individuals affected by 22q11DS on a daily basis, but also by the encouraging results of studies conducted on mice.
The study PremiCeS22 will investigate the prodromal signals at the onset of psychotic disorders of children with 22q11.2 deletion syndrome
The study ARITH22 will investigate the role of visuo-spatial attention on arithmetic abilities of children with 22q11.2 deletion syndrome.
Social cognition refers to mental operations that enable people to perceive, interpret constantly changing social informations. These processes allow people to rapidly, effortlessly and flexibly perceive and interpret rapidly-changing social information, and respond appropriately to social stimuli. Besides, this ability gives meaning to the actions of others. Impairments in this field may largely underlie social dysfunctions and reduce adaptive skills. Moreover, social cognitive disabilities contribute more or less directly to behavioral disturbances and psychiatric symptoms The "RC KID" program involves a variety of exercises in a paper and/or pencil or a computerized format or role playing and a strategy coaching approach. "RC KID" targets the emotion recognition and social interaction. A little cartoon character (a pirate), is supposed to be very friendly and kind toward children. The pirate will accompany them throughout the program for an effective and positive reinforcement. The main goal of "RC KID" is to adjust to children's difficulties in daily life. Moreover, since the cognitive remediation benefit is complex to apply in daily life, the program is based on a metacognitive strategy. After a complete neuropsychological assessment and a psychoeducational session (with the child and the parents), 16 1-h-sessions of cognitive remediation with the therapist are proposed. Each session is composed of three parts: (1) computerized tasks focusing on specific emotion recognition components (20 min). RC KID is composed of 2 modules : Emotion recognition and social interaction. These tasks contain photo or video. (2) pen and paper or role playing tasks focusing on the same processes (20 min) (3) a proposal of a home-based task (during 20 min). Weekly, home tasks are proposed to the child and analyzed with the parents and the therapist. Indeed, home exercises are useful to promote the transfer of strategies to daily life and their subsequent automation. The heterogeneity of cognitive deficits in 22q11.2 deletion necessitates an individualized cognitive remediation therapy. In this regard, "RC KID" seems to be a promising tool.
This is a 5-week, multi-center, open-label, dose optimization trial in subjects aged 12-17 years with 22q11DS who have a diagnosis of anxiety disorder, and/or ADHD, and/or ASD. Approximately 12 subjects will be initiated, dose optimized, and maintained on NFC-1 over a period of 5 weeks.
- Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome - Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome
The goal of this study is to collect preliminary data on the efficacy of a cognitive remediation program in improving the neurocognitive deficits in children with chromosome 22q11.2 deletion syndrome (22q11DS). This study involves a two part approaching including a computerized cognitive remediation program (CCRP, Posit Science, CA) in combination with a Social Cognitive Training (SCT) program. The computer-based training program has shown encouraging results in improving learning deficits in individuals with schizophrenia and we now seek to adapt them to children with 22q11DS, who have unique needs due to their lower IQ and high risk of psychosis in late adolescence and adulthood. The SCT is a small-group intervention program based on cognitive enhancement therapy, which has been shown to improve social cognition and functionality in adults with schizophrenia. A preliminary study will be performed using this two-pronged approach, to establish the feasibility and gather preliminary data on neurocognition before and after the intervention in these children; these data would enable a larger randomized controlled study to assess the efficacy of this approach.
The purpose of the project is the determination of how the deletion of DNA from chromosome 22 at the q11.2 band causes the phenotypes observed in velo-cardio-facial syndrome (VCFS). In other words, the purpose remains genotype-to-phenotype matching. Current methods includes the use of whole genome chips and microarray analysis. Blood samples are collected for DNA from every patient who consents from the VCFS Center at Upstate Medical University. They are examined for phenotypic features consistent with our typical clinical evaluation. The information from these examinations will be entered anonymously into a database. Genomic information is then matched to clinical phenotype with appropriate statistical method applied.