Table 1_Investigating the relationship between sleep disturbances and psychopathology In children and adolescents with microdeletion of 22q11 chromosome: an exploratory study.docx

Introduction22q11.2 deletion syndrome (22q11.2DS), also known as velo-cardiofacial syndrome or DiGeorge syndrome (DGS) is highly variable in phenotype, encompassing a wide range of physical and neuropsychiatric manifestations (ID, ADHD, ASD, anxiety, major depressive disorder,obsessive-compulsive disorder, schizophrenia). In this retrospective study, we aimed to assess the clinical significance of sleep disturbances and their relationship with functional impairment in a cohort of 52 children and adolescents with 22q11.2DS, as well as psychological distress in their parents. Standardized measures, including the Sleep Disturbance Scale for Children (SDSC) and the Parenting Stress Index-Short Form (PSI-SF), were administered to parents.
MethodsThe sample consisted of 26 males and 26 females, aged 5 to 18 years. Participants were referred to the Day Hospital follow up of Child and Adolescent Neuropsychiatry Unit in the Bambino Gesù Children’s Hospital in Rome, Italy, between January 2023 and December 2023. The total cohort was divided into two main groups based on the presence of sleep problems: (1) Group 1, with sleep problems, and (2) Group 2, without sleep problems. Both groups demonstrated low mean IQ scores and low general adaptive functioning, as measured by the Wechsler Intelligence Scale for Children (WISC-IV) and the ABAS II General Adaptive Composite (GAC), respectively. Furthermore, Group 1 exhibited significantly lower functioning when assessed using the CGAS. Additionally, Group 1 reported higher levels of self-reported anxiety symptoms (MASC-2) compared to Group 2. While none of the results reached the clinical range, scores in Group 1 were generally higher, particularly on the “Performance Fears” subscale. A similar trend was observed in the “Negative Self-Esteem” subtest of the CDI 2 (self-report form). Although the average questionnaire scores did not fall within the clinical range, KSADS psychiatric diagnoses revealed the presence of various psychiatric disorders. Unexpectedly, these disorders were more prevalent in the group without sleep problems, except for anxiety disorders, which showed similar prevalence across both groups. Regarding parental stress, as measured by the PSI-SF, we did not observe a significant relationship between sleep disorders and parental stress, on the contrary to our expectations.
Results and discussionOur study is one of the few to specifically investigate sleep problems in the pediatric population with 22q11.2DS and the first to use the Sleep Disturbance Scale for Children (SDSC) to assess various aspects of sleep disorders in this group. Further studies are required to draw more consistent conclusions.

22q11.2缺失综合征（22q11.2DS，又称腭心面综合征或迪乔治综合征（DiGeorge syndrome, DGS））表型具有高度异质性，涵盖广泛的躯体及神经精神表现，包括智力障碍（ID）、注意缺陷多动障碍（ADHD）、孤独症谱系障碍（ASD）、焦虑障碍、重性抑郁障碍、强迫症及精神分裂症。本回顾性研究旨在评估52例22q11.2DS儿童及青少年队列中睡眠障碍的临床意义，及其与功能损害的关联，同时探究其父母的心理困扰情况。研究采用儿童睡眠障碍量表（Sleep Disturbance Scale for Children, SDSC）、育儿压力指数简表（Parenting Stress Index-Short Form, PSI-SF）等标准化评估工具对患儿家长进行施测。
方法：本研究样本共包含26名男性及26名女性，年龄介于5至18岁之间。研究对象于2023年1月至2023年12月期间，转诊至意大利罗马班比诺·盖苏儿童医院（Bambino Gesù Children’s Hospital）儿童与青少年神经精神科日间随访门诊。根据睡眠问题的存在情况，将全部队列分为两大组别：（1）组1：存在睡眠问题；（2）组2：无睡眠问题。两组的平均智商得分及总体适应功能均较低，分别通过韦氏儿童智力量表第四版（Wechsler Intelligence Scale for Children, WISC-IV）及第二版适应行为评定量表（ABAS II）的一般适应复合得分（General Adaptive Composite, GAC）进行评估。进一步分析显示，组1的总体功能经儿童大体评定量表（CGAS）评估时得分显著更低。此外，组1的自我报告焦虑症状得分（采用MASC-2量表）显著高于组2。尽管所有得分均未达到临床阈值，但组1的得分普遍更高，尤其是在“作业恐惧”（Performance Fears）子量表中。在儿童抑郁量表第二版（Children's Depression Inventory, CDI 2，自我报告版）的“消极自尊”（Negative Self-Esteem）子测验中也观察到了类似趋势。尽管问卷平均得分未处于临床范围，但通过K-SADS（Kiddie Schedule for Affective Disorders and Schizophrenia）精神病学诊断访谈评估发现，样本中存在多种精神障碍。意外的是，除焦虑障碍在两组间患病率相似外，其余精神障碍在无睡眠问题的组别中更为普遍。关于育儿压力（通过PSI-SF量表评估），与我们的预期相反，我们未观察到睡眠障碍与父母育儿压力之间存在显著关联。
结果与讨论：本研究是少数专门针对22q11.2DS儿科人群睡眠问题开展的研究之一，也是首个采用儿童睡眠障碍量表（SDSC）评估该群体睡眠障碍多维度特征的研究。未来仍需开展更多研究以得出更具一致性的结论。