Development of a Novel Cognitive Remediation Program for 22q11 Deletion Syndrome

描述（由申请人提供）：患有染色体22 q11缺失综合征（22 q11 DS）的儿童，一种常见的神经发育障碍，在青春期后期/成年期发展为精神分裂症和其他精神障碍的风险非常高（25-40%）。精神病性障碍在儿童期出现神经认知缺陷，与精神分裂症患者相似。基于最近的研究在神经可塑性，我们假设，这些缺陷可能是可补救的治疗性认知干预。 我们将进行一项试点研究，其目的是调整专门针对22 q11 DS儿童的神经认知和社会认知训练计划，以评估可行性，并为随后的随机对照试验收集初步数据，以评估认知补救在减轻这些人的认知和社会缺陷方面的疗效。 我们的方法是双管齐下的，包括一个基于计算机的训练计划，旨在通过视觉和听觉任务改善神经认知，以及一个旨在改善社会认知的小组干预。这些方法在患有认知缺陷和精神分裂症的成年人中有效，我们现在试图将其应用于患有22 q11 DS的儿童，这些儿童由于年龄小和精神病的高风险而具有特殊需求。将进行一项开放标签、随机化研究，纳入18例22 q11 DS儿童和18例对照受试者，年龄12-17岁。参与者将接受为期一年的连续计算机化神经认知和社会认知培训，并在干预前后对这些领域进行评估。从该试点项目收集的数据将用于更大规模的评估22 q11 DS患者认知补救的疗效。 这项研究具有高度创新性，因为目前还没有针对22 q11 DS认知缺陷的治疗方法;此外，22 q11 DS儿童的神经认知和社会认知方法也是新颖的。我们认为，明确为22 q11 DS儿童制定认知补救计划是重要的，因为它有可能减轻认知缺陷，这是儿童问题的一个组成部分，并可能在未来有效地改变与精神病发作相关的认知下降。 公共卫生相关性：本项目的目的是调整一个认知补救计划，是唯一适合于儿童22q11.2缺失综合征，以测试其可行性，并收集初步数据，为未来的研究，旨在检查这种认知干预的疗效。

DESCRIPTION (provided by applicant): Children with chromosome 22q11 deletion syndrome (22q11DS), a common neurodevelopmental disorder, have a remarkably high risk (25-40%) of developing schizophrenia and other psychotic disorders in late adolescence/adulthood. The psychotic disorders are preceded by neurocognitive deficits in childhood that are similar to that seen in individuals with schizophrenia. Based on recent research in neuroplasticity, we hypothesize that these deficits may be remediable by therapeutic cognitive interventions. We will conduct a pilot study, the aims of which are to adapt a neurocognitive and social cognitive training program specifically for children with 22q11DS, to assess feasibility and to gather preliminary data for a subsequent randomized controlled trial to evaluate the efficacy of cognitive remediation in mitigating the cognitive and social deficits in these individuals. Our approach is two-pronged, consisting of a computer-based training program designed to improve neurocognition through visual and auditory tasks, and a small-group intervention designed to improve social cognition. These approaches have been effective in adults with cognitive deficits and with schizophrenia and we now seek to adapt them to children with 22q11DS, who have exceptional needs due to their young age and high risk of psychosis. An open-labeled, randomized study will be performed, involving 18 children with 22q11DS and 18 control subjects, ages 12-17 years. The participants will undergo sequential computerized neurocognitive and social cognitive training for the duration of one year, with assessments of these domains before and after the interventions. Data collected from this pilot project will be used for a larger scale evaluation of the efficacy of cognitive remediation in individuals with 22q11DS. The proposed research is highly innovative, since there are no current treatments for the cognitive deficits in 22q11DS; additionally the combined neurocognitive and social cognitive approach in children with 22q11DS is novel. We believe that the development of a cognitive remediation program explicitly for children with 22q11DS is significant, since it would have the potential to mitigate the cognitive deficits that are an integral part of the childhood problems and may in the future be effective in modifying the cognitive decline associated with the onset of psychosis. PUBLIC HEALTH RELEVANCE: The purpose of this project is to adapt a cognitive remediation program that is uniquely suited for children with 22q11.2 deletion syndrome, to test its feasibility and to gather preliminary data for a future study designed to examine efficacy of such cognitive intervention.