PDF(Pubmed)
Abstract：
UNASSIGNED: Sotos syndrome (SoS) is a rare overgrowth genetic disease caused by intragenic mutations or microdeletions of the NSD1 gene located on chromosome 5q35. SoS population might present cognitive impairment and a spectrum of behavioral characteristics, with a worse profile in patients with microdeletion. Although patients with SoS are known to have impaired sleep habits, very little data are available. The present study aimed to assess the prevalence of sleep disorders (SDs) in a pediatric cohort of patients with SoS and their correlation with neuropsychiatric profiles.
UNASSIGNED: We included patients with a SoS diagnosis and age < 18 years; all patients underwent a comprehensive neuropsychological assessment, including evaluation of cognition, adaptive functions through the Adaptive Behavior Assessment System-Second Edition (ABAS-II), and behavioral problems using the Achenbach Child Behavior Checklist (CBCL) and Conners\' Parent Rating Scale-Revised (CPRS-R:L) questionnaire. To investigate the presence of SD parents, the Sleep Disturbance Scale for Children (SDSC) was completed.
UNASSIGNED: Thirty-eight patients (M 61%, F 39%, mean age 11.1 ± 4.65 years) were included in the study. Although only two had a prior SD diagnosis, 71.1% (N = 27) exhibited pathological scores on SDSC. No statistically significant associations were found between positive SDSC results and genetic microdeletion, intellectual disability (ID), or other medical conditions/treatments. However, a positive correlation emerged between SDSC scores and Conners\' Global Index (p = 0.048) and Restless/Impulsive (p = 0.01) scores, CBCL externalizing (p = 0.02), internalizing (p = 0.01), and total scores (p = 0.05). Conversely, a negative linear relationship was observed between the SDSC score and the ABAS GAC and ABAS CAD scores (p = 0.025).
UNASSIGNED: We detected an SD in 71.1% of our sample, with a positive relation between SD and internalizing and externalizing symptom levels, especially hyperactivity and impulsivity. Our study demonstrated a high prevalence of SD in pediatric patients with SoS, highlighting that all patients should be screened for this problem, which has a great impact on the quality of life of patients and their families.
UNASSIGNED: We included patients with a SoS diagnosis and age < 18 years; all patients underwent a comprehensive neuropsychological assessment, including evaluation of cognition, adaptive functions through the Adaptive Behavior Assessment System-Second Edition (ABAS-II), and behavioral problems using the Achenbach Child Behavior Checklist (CBCL) and Conners\' Parent Rating Scale-Revised (CPRS-R:L) questionnaire. To investigate the presence of SD parents, the Sleep Disturbance Scale for Children (SDSC) was completed.
UNASSIGNED: Thirty-eight patients (M 61%, F 39%, mean age 11.1 ± 4.65 years) were included in the study. Although only two had a prior SD diagnosis, 71.1% (N = 27) exhibited pathological scores on SDSC. No statistically significant associations were found between positive SDSC results and genetic microdeletion, intellectual disability (ID), or other medical conditions/treatments. However, a positive correlation emerged between SDSC scores and Conners\' Global Index (p = 0.048) and Restless/Impulsive (p = 0.01) scores, CBCL externalizing (p = 0.02), internalizing (p = 0.01), and total scores (p = 0.05). Conversely, a negative linear relationship was observed between the SDSC score and the ABAS GAC and ABAS CAD scores (p = 0.025).
UNASSIGNED: We detected an SD in 71.1% of our sample, with a positive relation between SD and internalizing and externalizing symptom levels, especially hyperactivity and impulsivity. Our study demonstrated a high prevalence of SD in pediatric patients with SoS, highlighting that all patients should be screened for this problem, which has a great impact on the quality of life of patients and their families.
摘要：
■Sotos综合征（SoS）是一种罕见的过度生长遗传疾病，由位于染色体5q35上的NSD1基因的基因内突变或微缺失引起。SoS人群可能存在认知障碍和一系列行为特征，微缺失患者的情况较差。尽管已知SoS患者的睡眠习惯受损，可用的数据很少。本研究旨在评估SoS患者儿科队列中睡眠障碍（SD）的患病率及其与神经精神病学特征的相关性。
■我们纳入了SoS诊断且年龄<18岁的患者；所有患者都接受了全面的神经心理学评估，包括认知评估，通过自适应行为评估系统-第二版(ABAS-II)实现自适应功能，和行为问题使用Achenbach儿童行为清单（CBCL）和Conners父母评定量表修订（CPRS-R：L）问卷。为了调查SD父母的存在，儿童睡眠障碍量表（SDSC）完成。
■38名患者（M61%，F39%，平均年龄11.1±4.65岁）纳入研究。虽然只有两个人先前有SD诊断，71.1%(N=27)的SDSC表现出病理评分。SDSC阳性结果与遗传微缺失之间无统计学意义的关联，智力残疾（ID），或其他医疗条件/治疗。然而,SDSC得分与康纳斯全球指数（p=0.048）和不安/冲动（p=0.01）得分之间出现正相关，CBCL外部化(p=0.02)，内化(p=0.01)，和总分（p=0.05）。相反，SDSC评分与ABASGAC和ABASCAD评分呈负线性关系(p=0.025).
■我们在71.1%的样本中检测到SD，SD与内化和外化症状水平之间存在正相关关系，尤其是多动和冲动。我们的研究表明，儿童SoS患者的SD患病率很高，强调所有患者都应该接受这个问题的筛查，对患者及其家属的生活质量有很大影响。
■我们纳入了SoS诊断且年龄<18岁的患者；所有患者都接受了全面的神经心理学评估，包括认知评估，通过自适应行为评估系统-第二版(ABAS-II)实现自适应功能，和行为问题使用Achenbach儿童行为清单（CBCL）和Conners父母评定量表修订（CPRS-R：L）问卷。为了调查SD父母的存在，儿童睡眠障碍量表（SDSC）完成。
■38名患者（M61%，F39%，平均年龄11.1±4.65岁）纳入研究。虽然只有两个人先前有SD诊断，71.1%(N=27)的SDSC表现出病理评分。SDSC阳性结果与遗传微缺失之间无统计学意义的关联，智力残疾（ID），或其他医疗条件/治疗。然而,SDSC得分与康纳斯全球指数（p=0.048）和不安/冲动（p=0.01）得分之间出现正相关，CBCL外部化(p=0.02)，内化(p=0.01)，和总分（p=0.05）。相反，SDSC评分与ABASGAC和ABASCAD评分呈负线性关系(p=0.025).
■我们在71.1%的样本中检测到SD，SD与内化和外化症状水平之间存在正相关关系，尤其是多动和冲动。我们的研究表明，儿童SoS患者的SD患病率很高，强调所有患者都应该接受这个问题的筛查，对患者及其家属的生活质量有很大影响。
