Chambers Nola, Heunis Tosca-Marie, Gardner-Lubbe Sugnet, Capal Jamie K, Bissell Stacey, Byars Anna W, Cukier Sebastián, Davis Peter E, Flinn Jennifer, Gipson Tanjala T, Kingswood J Chris, Kumm Aubrey J, Schoeters Eva, Smith Catherine, Srivastava Shoba, Takei Megumi, Vanclooster Stephanie, van Eeghen Agnies M, Waltereit Robert, Krueger Darcy A, Sahin Mustafa, De Waele Liesbeth, Jansen Anna C, de Vries Petrus J
Centre for Autism Research in Africa (CARA), Division of Child and Adolescent Psychiatry, University of Cape Town, 46 Sawkins Road, Rondebosch, Cape Town, 7700, South Africa.
Mental Health and Wellbeing Research Group, Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium.
Orphanet J Rare Dis. 2025 Jun 13;20(1):304. doi: 10.1186/s13023-025-03642-2.
Tuberous Sclerosis Complex (TSC) is a rare multi-system genetic disorder characterised by benign growths in multiple body systems. TSC-Associated Neuropsychiatric Disorders (TAND) are very common in individuals with TSC, but families often struggle to access appropriate clinical care. To address this gap, the new TAND-SQ Checklist allows individuals with TSC or their caregivers to self-report and quantify characteristics of TAND. The 33 items make up seven natural TAND clusters and an eighth cluster reflecting psychosocial difficulties in individuals with TSC and their caregivers. Respondents rate items as having ever been present to generate cluster scores (CS), and rate item severity (over the last month) on a 10-point scale to generate cluster severity scores (CSS) and a total TAND severity score (TTSS). The purpose of this study was to determine the reliability and validity of the CS, CSS and TTSS of the TAND-SQ.
A descriptive group design was used. Two convenience samples with existing clinical data were recruited from the TSC Alliance Natural History Database (NHD) in the USA (n = 69), and from the Developmental Synaptopathies Consortium Rare Diseases Clinical Research Network (RDCRN) study based at Boston and Cincinnati Children's Hospitals (n = 23), totalling 92 participants.
Analyses showed good internal consistency for CS (Cronbach's alphas: 0.67-0.89) and CSS (0.76-0.95) with the exception of the eat/sleep cluster. Within the TAND-SQ, most CS and all CSS were significantly correlated to corresponding self-reported clinical diagnoses, and the TTSS was significantly correlated to a global self-rating of TAND burden (ρ = 0.75; p < .001). Significant correlations were observed between the CS and CSS and a range of relevant standardised behavioural measures in the RDCRN cohort. The TTSS was significantly correlated with global measures of adaptive behaviour (ρ = - 0.75; p < .001) and emotional/behavioural difficulties (ρ = 0.71; p = .001). All CS were significantly correlated with corresponding diagnoses of autism, ADHD, anxiety disorder, depressive disorder, scholastic difficulties, and neuropsychological difficulties where reported in the RDCRN and NHD cohorts.
Findings provide support for the reliability and validity of the CS, CSS and TTSS of the TAND-SQ and support their use in clinical decision-making for TAND management and in further research.
结节性硬化症（TSC）是一种罕见的多系统遗传性疾病，其特征是多个身体系统出现良性肿瘤。TSC相关神经精神障碍（TAND）在TSC患者中非常常见，但患者家庭往往难以获得适当的临床护理。为了填补这一空白，新的TAND-SQ检查表允许TSC患者或其护理人员自我报告并量化TAND的特征。33个项目构成了7个自然的TAND类别以及第8个类别，反映了TSC患者及其护理人员的心理社会困难。受访者对项目是否曾经出现进行评分以生成类别分数（CS），并在10分制上对项目严重程度（过去一个月内）进行评分以生成类别严重程度分数（CSS）和TAND总严重程度分数（TTSS）。本研究的目的是确定TAND-SQ的CS、CSS和TTSS的可靠性和有效性。
采用描述性组设计。从美国的TSC联盟自然史数据库（NHD）（n = 69）以及基于波士顿和辛辛那提儿童医院的发育性突触病联盟罕见病临床研究网络（RDCRN）研究中招募了两个具有现有临床数据的便利样本，共有92名参与者。
分析显示，除饮食/睡眠类别外，CS（克朗巴哈系数：0.67 - 0.89）和CSS（0.76 - 0.95）具有良好的内部一致性。在TAND-SQ中，大多数CS和所有CSS与相应的自我报告临床诊断显著相关，并且TTSS与TAND负担的总体自我评分显著相关（ρ = 0.75；p <.001）。在RDCRN队列中，观察到CS和CSS与一系列相关的标准化行为测量之间存在显著相关性。TTSS与适应性行为的总体测量（ρ = - 0.75；p <.001）以及情绪/行为困难（ρ = 0.71；p =.001）显著相关。在RDCRN和NHD队列中报告的所有CS与自闭症、注意力缺陷多动障碍、焦虑症、抑郁症、学业困难和神经心理困难的相应诊断均显著相关。
研究结果为TAND-SQ的CS、CSS和TTSS的可靠性和有效性提供了支持，并支持它们在TAND管理的临床决策和进一步研究中的应用。
