PDF(Pubmed)
Abstract：
BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.
METHODS: We invited previously recruited families from the International Rett Syndrome Study to complete a web-based questionnaire concerning their family member with Rett syndrome aged between 2 and 57 years. We used logistic regression to investigate presence, frequency and impact of breath-holding, hyperventilation, or abdominal bloating by age group and mutation type. Age of onset for both breathing abnormalities was investigated using time-to-onset analysis, and the Kaplan-Meier method was used to estimate the failure function for the study sample. Descriptive statistics were used to characterize the management of irregular breathing.
RESULTS: Questionnaires were returned by 413/482 (85.7%) families. Breath-holding was reported for 68.8%, hyperventilation for 46.4% and abdominal bloating for 42.4%. Hyperventilation was more prevalent and frequent in those younger than 7 years of age and abdominal bloating in those aged over 20 years. Onset of breathing irregularities usually occurred during early childhood. Caregivers perceived that daily life was considerably impacted for almost half (44.1%) of those with abdominal bloating and in just over than a third of those with breath-holding (35.8%) or hyperventilation (35.1%). Although perceived impact was broadly comparable between age and mutation groups for breath-holding, hyperventilation and abdominal bloating, girls and women with a p.Arg294* mutation were considered to be more affected by all three conditions. Only 31 individuals had received medically prescribed treatments including 12 different medications, added oxygen, rebreathing apparatus or non-invasive ventilation.
CONCLUSIONS: Autonomic disturbances are prevalent and burdensome in Rett syndrome. This information may guide the design of inclusion criteria and outcome measures for clinical intervention trials targeting autonomic abnormalities. Further investigation of available treatments is necessary to delineate evidence-based management pathways.
METHODS: We invited previously recruited families from the International Rett Syndrome Study to complete a web-based questionnaire concerning their family member with Rett syndrome aged between 2 and 57 years. We used logistic regression to investigate presence, frequency and impact of breath-holding, hyperventilation, or abdominal bloating by age group and mutation type. Age of onset for both breathing abnormalities was investigated using time-to-onset analysis, and the Kaplan-Meier method was used to estimate the failure function for the study sample. Descriptive statistics were used to characterize the management of irregular breathing.
RESULTS: Questionnaires were returned by 413/482 (85.7%) families. Breath-holding was reported for 68.8%, hyperventilation for 46.4% and abdominal bloating for 42.4%. Hyperventilation was more prevalent and frequent in those younger than 7 years of age and abdominal bloating in those aged over 20 years. Onset of breathing irregularities usually occurred during early childhood. Caregivers perceived that daily life was considerably impacted for almost half (44.1%) of those with abdominal bloating and in just over than a third of those with breath-holding (35.8%) or hyperventilation (35.1%). Although perceived impact was broadly comparable between age and mutation groups for breath-holding, hyperventilation and abdominal bloating, girls and women with a p.Arg294* mutation were considered to be more affected by all three conditions. Only 31 individuals had received medically prescribed treatments including 12 different medications, added oxygen, rebreathing apparatus or non-invasive ventilation.
CONCLUSIONS: Autonomic disturbances are prevalent and burdensome in Rett syndrome. This information may guide the design of inclusion criteria and outcome measures for clinical intervention trials targeting autonomic abnormalities. Further investigation of available treatments is necessary to delineate evidence-based management pathways.
摘要：
背景：Rett综合征是一种与MECP2基因突变相关的严重神经发育障碍。不规则的呼吸模式和腹胀是突出的特征，但知之甚少。我们的目的是描述异常的呼吸模式和腹胀，调查这些按年龄和突变类型的分布，并从照顾者的角度检查其影响和管理。
方法：我们邀请以前从国际Rett综合征研究中招募的家庭完成一份基于网络的问卷，该问卷涉及其年龄在2至57岁之间的Rett综合征家庭成员。我们使用逻辑回归来调查存在，屏气的频率和影响，换气过度,或腹胀按年龄组和突变类型。使用发病时间分析调查了两种呼吸异常的发病年龄，并使用Kaplan-Meier方法估计研究样本的失效函数。描述性统计用于表征不规则呼吸的管理。
结果：调查问卷由413/482（85.7％）家庭返回。据报道，屏气占68.8%，换气过度占46.4％，腹胀占42.4％。在7岁以下的人群中，过度换气更为普遍和频繁，而在20岁以上的人群中，腹胀更为常见。呼吸不规则通常发生在儿童早期。护理人员认为，腹部腹胀的患者中几乎有一半（44.1％）的日常生活受到了相当大的影响，而屏气（35.8％）或换气过度（35.1％）的患者中，只有三分之一以上。尽管年龄和突变组对屏气的感知影响大致相当，过度换气和腹胀，有p.Arg294*突变的女孩和女性被认为受这三种情况的影响更大.只有31人接受了医学处方治疗，包括12种不同的药物，添加氧气,再呼吸装置或非侵入性通气。
结论：自主神经紊乱在Rett综合征中普遍存在且负担很大。这些信息可以指导针对自主神经异常的临床干预试验的纳入标准和结果测量的设计。有必要对可用的治疗方法进行进一步的调查，以描述基于证据的管理途径。
方法：我们邀请以前从国际Rett综合征研究中招募的家庭完成一份基于网络的问卷，该问卷涉及其年龄在2至57岁之间的Rett综合征家庭成员。我们使用逻辑回归来调查存在，屏气的频率和影响，换气过度,或腹胀按年龄组和突变类型。使用发病时间分析调查了两种呼吸异常的发病年龄，并使用Kaplan-Meier方法估计研究样本的失效函数。描述性统计用于表征不规则呼吸的管理。
结果：调查问卷由413/482（85.7％）家庭返回。据报道，屏气占68.8%，换气过度占46.4％，腹胀占42.4％。在7岁以下的人群中，过度换气更为普遍和频繁，而在20岁以上的人群中，腹胀更为常见。呼吸不规则通常发生在儿童早期。护理人员认为，腹部腹胀的患者中几乎有一半（44.1％）的日常生活受到了相当大的影响，而屏气（35.8％）或换气过度（35.1％）的患者中，只有三分之一以上。尽管年龄和突变组对屏气的感知影响大致相当，过度换气和腹胀，有p.Arg294*突变的女孩和女性被认为受这三种情况的影响更大.只有31人接受了医学处方治疗，包括12种不同的药物，添加氧气,再呼吸装置或非侵入性通气。
结论：自主神经紊乱在Rett综合征中普遍存在且负担很大。这些信息可以指导针对自主神经异常的临床干预试验的纳入标准和结果测量的设计。有必要对可用的治疗方法进行进一步的调查，以描述基于证据的管理途径。
