Abstract：
BACKGROUND: X-Linked Myotubular Myopathy (XLMTM) is a severe congenital myopathy, potentially fatal within the first years. Patients present several complications and their cognitive development has never been explored deeply so far. An in-depth knowledge on the disease natural history, including the neurocognitive and adaptive profile, is essential in light of the promising new therapeutic perspectives.
METHODS: We included all XLMTM patients seen in our clinical Unit between January 2021 and December 2023, irrespective to their disease\'s severity. Demographic and clinical data, including motor, respiratory and swallowing functions were collected. Patients were assessed with gold-standard international scales, according to their age and communication skills.
RESULTS: We assessed nine patients in total, four with a severe phenotype, four with an intermediate phenotype and one with mild phenotype. The cognitive profile was within the lower limits or lower than the norm, with a global adaptive deficit for the majority of patients. A perseverative behavioural trait was also observed in some patients.
CONCLUSIONS: This study shows that XLMTM patients in the cohort had a neurodevelopmental profile within the lower limits of the norm, irrespective to the disease\'s severity, while the adaptive difficulties seems to be related to patients\' global clinical impairment. Our observation would deserve a confirmation on a wider range of patients and we consider it essential for better defining the XLMTM phenotype, also considering the incoming promising therapeutic approaches.
METHODS: We included all XLMTM patients seen in our clinical Unit between January 2021 and December 2023, irrespective to their disease\'s severity. Demographic and clinical data, including motor, respiratory and swallowing functions were collected. Patients were assessed with gold-standard international scales, according to their age and communication skills.
RESULTS: We assessed nine patients in total, four with a severe phenotype, four with an intermediate phenotype and one with mild phenotype. The cognitive profile was within the lower limits or lower than the norm, with a global adaptive deficit for the majority of patients. A perseverative behavioural trait was also observed in some patients.
CONCLUSIONS: This study shows that XLMTM patients in the cohort had a neurodevelopmental profile within the lower limits of the norm, irrespective to the disease\'s severity, while the adaptive difficulties seems to be related to patients\' global clinical impairment. Our observation would deserve a confirmation on a wider range of patients and we consider it essential for better defining the XLMTM phenotype, also considering the incoming promising therapeutic approaches.
摘要：
背景：X连锁肌管肌病（XLMTM）是一种严重的先天性肌病，在最初几年内可能致命。患者出现多种并发症，迄今为止从未对其认知发展进行过深入研究。对疾病自然史的深入了解，包括神经认知和适应性特征，鉴于有希望的新治疗观点，这是至关重要的。
方法：我们纳入了2021年1月至2023年12月在我们的临床单位中观察到的所有XLMTM患者，无论其疾病严重程度如何。人口统计学和临床数据，包括电机，收集呼吸和吞咽功能。患者采用金标准国际量表进行评估，根据他们的年龄和沟通技巧。
结果：我们总共评估了9名患者，四个有严重表型，四个具有中等表型，一个具有轻度表型。认知概况在下限或低于正常范围内，与大多数患者的全球适应性缺陷。在一些患者中也观察到了坚持不懈的行为特征。
结论：这项研究表明，该队列中的XLMTM患者的神经发育状况在常模的下限之内，不管疾病的严重程度，而适应性困难似乎与患者的整体临床损害有关。我们的观察结果值得对更广泛的患者进行确认，我们认为这对于更好地定义XLMTM表型至关重要。还考虑到即将到来的有希望的治疗方法。
方法：我们纳入了2021年1月至2023年12月在我们的临床单位中观察到的所有XLMTM患者，无论其疾病严重程度如何。人口统计学和临床数据，包括电机，收集呼吸和吞咽功能。患者采用金标准国际量表进行评估，根据他们的年龄和沟通技巧。
结果：我们总共评估了9名患者，四个有严重表型，四个具有中等表型，一个具有轻度表型。认知概况在下限或低于正常范围内，与大多数患者的全球适应性缺陷。在一些患者中也观察到了坚持不懈的行为特征。
结论：这项研究表明，该队列中的XLMTM患者的神经发育状况在常模的下限之内，不管疾病的严重程度，而适应性困难似乎与患者的整体临床损害有关。我们的观察结果值得对更广泛的患者进行确认，我们认为这对于更好地定义XLMTM表型至关重要。还考虑到即将到来的有希望的治疗方法。
