PDF(Pubmed)
Abstract：
BACKGROUND: Neuropsychiatric disorders are common in 22q11.2 Deletion Syndrome (22q11DS) with about 25% of affected individuals developing schizophrenia spectrum disorders by young adulthood. Longitudinal evaluation of psychosis spectrum features and neurocognition can establish developmental trajectories and impact on functional outcome.
METHODS: 157 youth with 22q11DS were assessed longitudinally for psychopathology focusing on psychosis spectrum symptoms, neurocognitive performance and global functioning. We contrasted the pattern of positive and negative psychosis spectrum symptoms and neurocognitive performance differentiating those with more prominent Psychosis Spectrum symptoms (PS+) to those without prominent psychosis symptoms (PS-).
RESULTS: We identified differences in the trajectories of psychosis symptoms and neurocognitive performance between the groups. The PS+ group showed age associated increase in symptom severity, especially negative symptoms and general nonspecific symptoms. Correspondingly, their level of functioning was worse and deteriorated more steeply than the PS- group. Neurocognitive performance was generally comparable in PS+ and PS- groups and demonstrated a similar age-related trajectory. However, worsening executive functioning distinguished the PS+ group from PS- counterparts. Notably, of the three executive function measures examined, only working memory showed a significant difference between the groups in rate of change. Finally, structural equation modeling showed that neurocognitive decline drove the clinical change.
CONCLUSIONS: Youth with 22q11DS and more prominent psychosis features show worsening of symptoms and functional decline driven by neurocognitive decline, most related to executive functions and specifically working memory. The results underscore the importance of working memory in the developmental progression of psychosis.
METHODS: 157 youth with 22q11DS were assessed longitudinally for psychopathology focusing on psychosis spectrum symptoms, neurocognitive performance and global functioning. We contrasted the pattern of positive and negative psychosis spectrum symptoms and neurocognitive performance differentiating those with more prominent Psychosis Spectrum symptoms (PS+) to those without prominent psychosis symptoms (PS-).
RESULTS: We identified differences in the trajectories of psychosis symptoms and neurocognitive performance between the groups. The PS+ group showed age associated increase in symptom severity, especially negative symptoms and general nonspecific symptoms. Correspondingly, their level of functioning was worse and deteriorated more steeply than the PS- group. Neurocognitive performance was generally comparable in PS+ and PS- groups and demonstrated a similar age-related trajectory. However, worsening executive functioning distinguished the PS+ group from PS- counterparts. Notably, of the three executive function measures examined, only working memory showed a significant difference between the groups in rate of change. Finally, structural equation modeling showed that neurocognitive decline drove the clinical change.
CONCLUSIONS: Youth with 22q11DS and more prominent psychosis features show worsening of symptoms and functional decline driven by neurocognitive decline, most related to executive functions and specifically working memory. The results underscore the importance of working memory in the developmental progression of psychosis.
摘要：
背景：神经精神障碍在22q11.2缺失综合征（22q11DS）中很常见，约25％的受影响个体在成年后发展为精神分裂症谱系障碍。对精神病谱系特征和神经认知的纵向评估可以建立发育轨迹和对功能结局的影响。
方法：纵向评估157名22q11DS的青年的精神病理学，重点是精神病谱症状，神经认知表现和整体功能。我们对比了阳性和阴性精神病谱症状和神经认知表现的模式，将精神病谱症状（PS）更突出的患者与没有精神病症状（PS-）的患者区分开。
结果：我们确定了两组之间精神病症状和神经认知表现的轨迹差异。PS+组显示出年龄相关的症状严重程度增加，尤其是阴性症状和一般非特异性症状。相应地,与PS组相比，他们的功能水平更差，恶化更严重。PS+和PS-组的神经认知表现通常相当，并表现出相似的年龄相关轨迹。然而,执行功能的恶化将PS+小组与PS-小组区分开来。值得注意的是,在所检查的三项执行功能措施中，只有工作记忆在两组之间的变化率存在显着差异。最后,结构方程模型显示，神经认知能力下降导致了临床变化。
结论：患有22q11DS和更突出的精神病特征的年轻人表现出由神经认知功能下降驱动的症状恶化和功能下降，大多数与执行功能，特别是工作记忆有关。结果强调了工作记忆在精神病发育过程中的重要性。
方法：纵向评估157名22q11DS的青年的精神病理学，重点是精神病谱症状，神经认知表现和整体功能。我们对比了阳性和阴性精神病谱症状和神经认知表现的模式，将精神病谱症状（PS）更突出的患者与没有精神病症状（PS-）的患者区分开。
结果：我们确定了两组之间精神病症状和神经认知表现的轨迹差异。PS+组显示出年龄相关的症状严重程度增加，尤其是阴性症状和一般非特异性症状。相应地,与PS组相比，他们的功能水平更差，恶化更严重。PS+和PS-组的神经认知表现通常相当，并表现出相似的年龄相关轨迹。然而,执行功能的恶化将PS+小组与PS-小组区分开来。值得注意的是,在所检查的三项执行功能措施中，只有工作记忆在两组之间的变化率存在显着差异。最后,结构方程模型显示，神经认知能力下降导致了临床变化。
结论：患有22q11DS和更突出的精神病特征的年轻人表现出由神经认知功能下降驱动的症状恶化和功能下降，大多数与执行功能，特别是工作记忆有关。结果强调了工作记忆在精神病发育过程中的重要性。
