Migliore Simone, D'Aurizio Giulia, Ceccarelli Consuelo, Casella Melissa, Curcio Giuseppe, Squitieri Ferdinando
Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo Della Sofferenza Hospital, 71013, San Giovanni Rotondo, Italy.
Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100, L'Aquila, Italy.
Neurol Sci. 2023 Dec;44(12):4343-4348. doi: 10.1007/s10072-023-06950-2. Epub 2023 Jul 11.
Multiple sclerosis neuropsychological questionnaire (MSNQ) is a brief questionnaire useful for screening patient's and informant's self-perception of cognitive dysfunctions in daily life activities. Our study aims to evaluate the MSNQ validity in Huntington's disease (HD) mutation carriers and to correlate MSNQ scores with neurological, cognitive, and behavioral variables.
The study was conducted on a sample of 107 subjects from presymptomatic to the middle stage of HD recruited at LIRH Foundation and C.S.S. Mendel Institute in Rome. Unified Huntington's Disease Rating Scale (UHDRS), an internationally standardized and validated scale, was used to evaluate motor, functional cognitive, and behavioral domains.
Our results showed that in HD subjects, MSNQ has a unidimensional factor structure. Correlational analyses indicated a good correlation between the MSNQ-patient version (MSNQ-p) and clinical variables, specifically with cognitive dysfunction and behavioral alterations. Moreover, higher scores in MSNQ-p were associated with higher motor disease and functional impairment showing that patients in advanced stage of HD perceive a greater cognitive impairment. These results confirm the questionnaire's reliability.
The present study demonstrates the validity and adaptability of MSNQ in the HD population proposing it as a cognitive tool during routine clinical follow-ups, although further research is needed to determine an optimal cut-off score for this measure.
多发性硬化神经心理学问卷(MSNQ)是一份简短问卷,有助于筛查患者及其告知者对日常生活活动中认知功能障碍的自我认知。我们的研究旨在评估MSNQ在亨廷顿舞蹈症(HD)突变携带者中的有效性,并将MSNQ得分与神经、认知和行为变量进行关联。
该研究以在罗马的LIRH基金会和C.S.S. 孟德尔研究所招募的107名从症状前到HD中期的受试者为样本。采用国际标准化且经过验证的统一亨廷顿舞蹈症评定量表(UHDRS)来评估运动、功能认知和行为领域。
我们的结果表明,在HD受试者中,MSNQ具有单维因素结构。相关性分析表明,MSNQ患者版(MSNQ-p)与临床变量之间存在良好相关性,特别是与认知功能障碍和行为改变相关。此外,MSNQ-p得分较高与更高的运动疾病和功能损害相关,表明HD晚期患者感知到更大的认知损害。这些结果证实了该问卷的可靠性。
本研究证明了MSNQ在HD人群中的有效性和适应性,建议将其作为常规临床随访期间的认知工具,尽管还需要进一步研究来确定该测量的最佳临界值。