Unmet clinical needs and burden in Angelman syndrome: a review of the literature.
Unmet clinical needs and burden in Angelman syndrome: a review of the literature.
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DOI：
10.1186/s13023-017-0716-z
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发表时间：
2017-10-16
影响因子：
3.7
通讯作者：
Cabo R
中科院分区：
文献类型：
--
作者：
Wheeler AC;Sacco P;Cabo R
Angelman综合征（AS）是一种罕见的疾病，具有相对明确的表型。尽管如此，关于未满足的临床需求和这种情况的负担知之甚少，特别是关于一些最普遍的临床特征-运动障碍，沟通障碍，行为和睡眠。利用电子医学数据库（例如PubMed）进行了有针对性的文献综述，以确定最近关注AS表型特定领域（运动、交流、行为、睡眠）以及流行病学、诊断过程、治疗和负担的研究。对142篇文献进行了综述。研究结果表明，在整个生命周期中，所有领域的功能都会受到严重损害。虽然有些问题可能会随着个人年龄的增长而解决（例如，多动症），但其他问题会变得更糟（例如，运动障碍，攻击性，焦虑）。目前还没有针对潜在病因的治疗方法，目前开出的以症状为基础的治疗方法即使有，也没有太多的经验支持。由于缺乏标准化的治疗方案或批准的治疗方法，再加上病情的严重性，导致AS患者及其家人在运动功能、沟通、行为和睡眠方面的临床需求得不到满足。
Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features—movement disorders, communication impairments, behavior, and sleep. A targeted literature review using electronic medical databases (e.g., PubMed) was conducted to identify recent studies focused on specific areas of the AS phenotype (motor, communication, behavior, sleep) as well as epidemiology, diagnostic processes, treatment, and burden. 142 articles were reviewed and summarized. Findings suggest significant impairment across the life span in all areas of function. While some issues may resolve as individuals get older (e.g., hyperactivity), others become worse (e.g., movement disorders, aggression, anxiety). There are no treatments focused on the underlying etiology, and the symptom-based therapies currently prescribed do not have much, if any, empirical support. The lack of standardized treatment protocols or approved therapies, combined with the severity of the condition, results in high unmet clinical needs in the areas of motor functioning, communication, behavior, and sleep for individuals with AS and their families.
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DOI：
10.1080/140154301300109044
发表时间：
2001-01-01
期刊：
Logopedics, phoniatrics, vocology
影响因子：
--
作者：
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Stromme, P
DOI：
10.1111/j.1365-2788.2010.01331.x
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2010-11-01
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2
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Calculator, Stephen N.
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Calculator, Stephen N.
DOI：
10.1111/j.1365-2788.2010.01337.x
发表时间：
2011-02-01
影响因子：
3.6
作者：
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