PDF(Pubmed)
Abstract：
BACKGROUND: Monocarboxylate transporter 8 (MCT8) deficiency is a rare neurodevelopmental and metabolic disorder, with daily care posing a heavy burden on caregivers. A comprehensive overview of these complex needs and daily care challenges is lacking.
METHODS: We established an international prospective registry to systemically capture data from parents and physicians caring for patients with MCT8 deficiency. Parent-reported data on complex needs and daily care challenges were extracted.
RESULTS: Between July 17, 2018, and May 16, 2022, 51 patients were registered. Difficulties in daily life care were mostly related to feeding and nutritional status (17/33 patients), limited motor skills (12/33 patients), and sleeping (11/33 patients). Dietary advice was provided for 11/36 patients. Two of 32 patients were under care of a cardiologist. Common difficulties in the diagnostic trajectory included late diagnosis (20/35 patients) and visiting a multitude of specialists (15/35 patients). Median diagnostic delay was significantly shorter in patients born in or after 2017 vs before 2017 (8 vs 19 months, P < .0001).
CONCLUSIONS: Feeding and sleeping problems and limited motor skills mostly contribute to difficulties in daily care. The majority of patients did not receive professional dietary advice, although being underweight is a key disease feature, strongly linked with poor survival. Despite sudden death being a prominent cause of death, potentially related to the cardiovascular abnormalities frequently observed, patients were hardly seen by cardiologists. These findings can directly improve patient-centered multidisciplinary care and define patient-centered outcome measures for intervention studies in patients with MCT8 deficiency.
METHODS: We established an international prospective registry to systemically capture data from parents and physicians caring for patients with MCT8 deficiency. Parent-reported data on complex needs and daily care challenges were extracted.
RESULTS: Between July 17, 2018, and May 16, 2022, 51 patients were registered. Difficulties in daily life care were mostly related to feeding and nutritional status (17/33 patients), limited motor skills (12/33 patients), and sleeping (11/33 patients). Dietary advice was provided for 11/36 patients. Two of 32 patients were under care of a cardiologist. Common difficulties in the diagnostic trajectory included late diagnosis (20/35 patients) and visiting a multitude of specialists (15/35 patients). Median diagnostic delay was significantly shorter in patients born in or after 2017 vs before 2017 (8 vs 19 months, P < .0001).
CONCLUSIONS: Feeding and sleeping problems and limited motor skills mostly contribute to difficulties in daily care. The majority of patients did not receive professional dietary advice, although being underweight is a key disease feature, strongly linked with poor survival. Despite sudden death being a prominent cause of death, potentially related to the cardiovascular abnormalities frequently observed, patients were hardly seen by cardiologists. These findings can directly improve patient-centered multidisciplinary care and define patient-centered outcome measures for intervention studies in patients with MCT8 deficiency.
摘要：
背景：单羧酸转运蛋白8（MCT8）缺乏症是一种罕见的神经发育和代谢紊乱，日常护理给护理人员带来沉重负担。缺乏对其复杂需求和日常护理挑战的全面概述。
方法：我们建立了一个国际前瞻性注册中心，从照顾MCT8缺乏症患者的父母和医生那里系统地收集数据。提取了有关复杂需求和日常护理挑战的家长报告数据。
结果：在2018年7月17日至2022年5月16日之间，登记了51例患者。日常生活护理的困难主要与喂养和营养状况有关（17/33例），有限的运动技能（12/33患者）和睡眠（11/33患者）。为11/36例患者提供饮食建议。32名患者中有2名接受了心脏病专家的治疗。诊断轨迹中的常见困难包括晚期诊断（20/35患者）和拜访众多专家（15/35患者）。2017年或之后出生的患者的中位诊断延迟明显短于2017年之前（8个月比19个月，p<0.0001)。
结论：喂养和睡眠问题以及有限的运动技能主要导致日常护理困难。大多数患者没有接受专业的饮食建议，虽然体重过轻是一个关键的疾病特征，与不良生存密切相关。尽管猝死是导致死亡的主要原因，可能与经常观察到的心血管异常有关，心脏病专家几乎看不到患者。这些发现可以直接改善以患者为中心的多学科护理，并为MCT8缺乏症患者的干预研究定义以患者为中心的结局措施。
方法：我们建立了一个国际前瞻性注册中心，从照顾MCT8缺乏症患者的父母和医生那里系统地收集数据。提取了有关复杂需求和日常护理挑战的家长报告数据。
结果：在2018年7月17日至2022年5月16日之间，登记了51例患者。日常生活护理的困难主要与喂养和营养状况有关（17/33例），有限的运动技能（12/33患者）和睡眠（11/33患者）。为11/36例患者提供饮食建议。32名患者中有2名接受了心脏病专家的治疗。诊断轨迹中的常见困难包括晚期诊断（20/35患者）和拜访众多专家（15/35患者）。2017年或之后出生的患者的中位诊断延迟明显短于2017年之前（8个月比19个月，p<0.0001)。
结论：喂养和睡眠问题以及有限的运动技能主要导致日常护理困难。大多数患者没有接受专业的饮食建议，虽然体重过轻是一个关键的疾病特征，与不良生存密切相关。尽管猝死是导致死亡的主要原因，可能与经常观察到的心血管异常有关，心脏病专家几乎看不到患者。这些发现可以直接改善以患者为中心的多学科护理，并为MCT8缺乏症患者的干预研究定义以患者为中心的结局措施。
