Souders Margaret C, McDonald-McGinn Donna M, Ruparel Kosha, Moore Tyler M, Tang Sunny X, Calkins Monica E, Zackai Elaine H, Gur Ruben C, Emanuel Beverly S, Gur Raquel E
Department of Child and Adolescent Psychiatry, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Brain Behavior Laboratory, Neuropsychiatry Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA; University of Pennsylvania, School of Nursing, USA.
22q and You Center, Clinical Genetics Center, and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Psychiatry Res. 2025 Feb;344:116336. doi: 10.1016/j.psychres.2024.116336. Epub 2024 Dec 22.
The 22q11.2 Deletion Syndrome (22q11.2DS) is a multisystem genetic disorder with prominent sleep disturbances, neuropsychiatric conditions and neurocognitive challenges. Poor sleep can impact cognitive development, psychopathology and daily functioning. An integrative approach in clinical settings can help link these manifestations and suggest interventions. A comprehensive sleep interview was conducted with 100 affected individuals and their parents, complemented with electronic health record review. Independent psychiatric and neurocognitive assessments were conducted in 92 participants, divided into Good Sleeper (score 1-4) and Poor Sleeper (score ≥ 5) groups based on the Pittsburgh Sleep Quality Index (PSQI). Sleep disorders were common, 78% of participants met International Classification of Sleep Disorders criteria. Most prevalent were Insomnia, Sleep Disorder Breathing, Delayed Sleep Phase Disorder and Restless Leg Syndrome. 74% of participants met criteria for at least one current psychiatric disorder. Poor Sleepers had lower Global Assessment of Function (GAF), higher severity of psychosis positive, negative, and general symptoms, and lower performance efficiency on executive, spatial memory, complex cognition and social cognition tests. Mediation models showed that association of psychosis scores and GAF were mediated by PSQI and the association between PSQI and GAF was mediated by psychosis scores. Sleep disorders are prevalent in individuals with 22q11.2DS and impact psychiatric manifestation and neurocognitive performance. Results suggest a possible "vicious cycle " whereby disordered sleep is associated with increased psychosis which, in turn, results in worsening sleep, all affecting GAF. Identification of sleep disorders can facilitate appropriate interventions reducing burden of psychiatric symptoms and improving cognition and functioning.
22q11.2 缺失综合征（22q11.2DS）是一种多系统遗传性疾病，伴有明显的睡眠障碍、神经精神疾病和神经认知挑战。睡眠不佳会影响认知发展、精神病理学和日常功能。临床环境中的综合方法有助于将这些表现联系起来并提出干预措施。对100名受影响个体及其父母进行了全面的睡眠访谈，并辅以电子健康记录审查。对92名参与者进行了独立的精神科和神经认知评估，根据匹兹堡睡眠质量指数（PSQI）分为睡眠良好组（评分1 - 4）和睡眠不佳组（评分≥5）。睡眠障碍很常见，78%的参与者符合国际睡眠障碍分类标准。最常见的是失眠、睡眠呼吸障碍、睡眠相位延迟障碍和不宁腿综合征。74%的参与者符合至少一种当前精神障碍的标准。睡眠不佳者的功能总体评估（GAF）较低，精神病阳性、阴性和一般症状的严重程度较高，在执行、空间记忆、复杂认知和社会认知测试中的表现效率较低。中介模型表明，精神病评分与GAF之间的关联由PSQI介导，PSQI与GAF之间的关联由精神病评分介导。睡眠障碍在22q11.2DS个体中很普遍，并影响精神科表现和神经认知表现。结果表明可能存在一种“恶性循环”，即睡眠紊乱与精神病增加有关，进而导致睡眠恶化，所有这些都会影响GAF。识别睡眠障碍有助于采取适当的干预措施，减轻精神症状负担，改善认知和功能。
