Yi James J, Calkins Monica E, Tang Sunny X, Kohler Christian G, McDonald-McGinn Donna M, Zackai Elaine H, Savitt Adam P, Bilker Warren B, Whinna Daneen A, Souders Margaret C, Emanuel Beverly S, Gur Ruben C, Gur Raquel E
Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce St, 10th Floor Gates Pavilion, Philadelphia, PA 19104
J Clin Psychiatry. 2015 Oct;76(10):e1262-70. doi: 10.4088/JCP.14m09197.
Presence of psychiatric comorbidity is associated with poor functioning and is an important consideration in treatment. Many individuals with 22q11.2 deletion syndrome (22q11DS) develop comorbid psychiatric disorders, yet its pattern and impact on functioning have not been formally investigated. In this cross-sectional study, we examined the relationship between comorbid psychopathology and neurocognitive deficits and their association with global functioning. We hypothesized that higher psychiatric burden and psychosis-spectrum features would be associated with reduced functioning and increased neurocognitive deficits.
The cohort included 171 individuals with 22q11DS and mean (SD) age of 17.4 (8.1) years, recruited from a tertiary children's hospital and nationally through social media between September 2010 and December 2013. Psychiatric diagnoses and functioning were assessed using semistructured interviews and the Global Assessment of Functioning (GAF) scale, respectively. On the basis of psychopathology and number of comorbid diagnoses, participants were assigned to unaffected (n = 32), nonpsychosis spectrum (n = 24), nonpsychosis spectrum-plus (n = 15), psychosis spectrum (n = 29), and psychosis spectrum-plus (n = 71) groups. Executive function, episodic memory, complex cognition, social cognition, and praxis speed were assessed using a computerized neurocognitive battery (CNB). Cognitive profile and GAF scores were compared among the groups, and the association of GAF with cognitive performance and psychopathology was examined.
We observed high rates of comorbid psychiatric disorders. Approximately 50% of the participants had ≥ 2 diagnoses. Psychosis spectrum disorders were most frequently comorbid with other disorders. GAF score was progressively worse with increased psychiatric burden. Mean (SD) GAF score for the unaffected group (81.1 [8.9]) was significantly different from those of nonpsychosis spectrum (68.6 [12.1]), nonpsychosis spectrum-plus (63.4 [8.8]), psychosis spectrum (58.7 [13.1]), or psychosis spectrum-plus (55.5 [13.3]) (P < .05) groups. All groups performed poorly and were comparable to each other on the CNB (P = .273). Notably, verbal memory (P = .003), spatial processing (P = .001), and parent education level (P < .001) were significantly associated with GAF.
Individuals with 22q11DS have high rates of comorbid psychiatric disorders and diffuse cognitive deficits regardless of psychiatric burden. Those with psychotic spectrum disorders and comorbid psychiatric disorders are at an increased risk for poor overall functioning.
精神疾病共病与功能不良相关，是治疗中的一个重要考量因素。许多22q11.2缺失综合征（22q11DS）患者会出现共病性精神障碍，但其模式及对功能的影响尚未得到正式研究。在这项横断面研究中，我们考察了共病精神病理学与神经认知缺陷之间的关系及其与整体功能的关联。我们假设更高的精神负担和精神病性谱系特征会与功能降低及神经认知缺陷增加相关。
该队列包括171名22q11DS患者，平均（标准差）年龄为17.4（8.1）岁，于2010年9月至2013年12月期间从一家三级儿童医院并通过社交媒体在全国范围内招募。分别使用半结构化访谈和功能总体评定量表（GAF）对精神疾病诊断和功能进行评估。根据精神病理学和共病诊断数量，将参与者分为未受影响组（n = 32）、非精神病性谱系组（n = 24）、非精神病性谱系加组（n = 15）、精神病性谱系组（n = 29）和精神病性谱系加组（n = 71）。使用计算机化神经认知成套测验（CNB）评估执行功能、情景记忆、复杂认知、社会认知和实践速度。比较各组的认知概况和GAF评分，并考察GAF与认知表现和精神病理学的关联。
我们观察到共病性精神障碍的发生率很高。约50%的参与者有≥2种诊断。精神病性谱系障碍最常与其他障碍共病。随着精神负担增加，GAF评分逐渐变差。未受影响组的平均（标准差）GAF评分为81.1（8.9），与非精神病性谱系组（68.6 [12.1]）、非精神病性谱系加组（63.4 [8.8]）、精神病性谱系组（58.7 [13.1]）或精神病性谱系加组（55.5 [13.3]）的评分有显著差异（P <.05）。所有组在CNB上表现均较差且相互可比（P =.273）。值得注意的是，言语记忆（P =.003）、空间处理（P =.001）和父母教育水平（P <.001）与GAF显著相关。
22q11DS患者共病性精神障碍的发生率很高，且无论精神负担如何都存在弥漫性认知缺陷。患有精神病性谱系障碍和共病性精神障碍的患者整体功能不良的风险增加。
