Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures.
Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures.
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DOI：
10.1002/mgg3.1989
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发表时间：
2022-08
影响因子：
2
通讯作者：
中科院分区：
文献类型：
--
作者：
MECP2 重复综合征 (MDS) 是由 Xq28 区域（包括 MECP2）重复引起的，是一种罕见疾病，对临床特征和严重程度的认识尚处于起步阶段。使用反义寡核苷酸的研究揭示了转基因小鼠的广泛表型拯救。随着人体临床试验的临近，有必要制定 MDS 的临床结果衡量标准。我们对 MDS 个体的护理人员进行了调查，以探索 MDS 临床特征的频率和严重程度，并确定需要纳入结果测量量表的最有意义的症状/领域。共有 101 份回复符合调查资格。对护理人员最有意义的六种症状按降序排列包括癫痫、粗大运动、精细运动、沟通、感染和便秘问题。 58.4% 的受试者患有癫痫，75% 的受试者具有耐药性，此外，约 12% 的受试者需要入住重症监护病房 (ICU)。 55% 的受试者存在感染，其中四分之一需要入住 ICU。约 85% 的受试者存在便秘，三分之一需要灌肠/栓剂。我们的研究是对 MDS 个体进行的最大的队列研究之一，描述了 MDS 症状的频率和严重程度。此外，这些研究结果将有助于建立一个基础，以开发家长报告的 MDS 结局。这项调查研究是针对 MECP2 重复综合症的护理人员进行的，旨在了解最有意义的症状，目的是制定家长报告的结果措施。我们的研究也是第一项调查 MECP2 重复综合症症状严重程度的研究。
MECP2 Duplication Syndrome (MDS), resulting from the duplication of Xq28 region, including MECP2, is a rare disorder with a nascent understanding in clinical features and severity. Studies using antisense oligonucleotides revealed a broad phenotypic rescue in transgenic mice. With human clinical trials on the horizon, there is a need to develop clinical outcome measures for MDS. We surveyed caregivers of MDS individuals to explore the frequency and severity of MDS clinical features, and identify the most meaningful symptoms/domains that need to be included in the outcome measure scales. A total of 101 responses were eligible for the survey. The top six most meaningful symptoms to caregivers in descending order included epilepsy, gross motor, fine motor, communication, infection, and constipation problems. Epilepsy was present in 58.4% of the subjects and 75% were drug‐resistant, Furthermore, ~12% required intensive care unit (ICU) admission. Infections were present in 55% of the subjects, and one‐fourth of them required ICU admission. Constipation was present in ~85% of the subjects and one‐third required enemas/suppositories. Our study is one of the largest cohorts conducted on MDS individuals characterizing the frequency and severity of MDS symptoms. Additionally, these study results will contribute to establishing a foundation to develop parent‐reported outcomes in MDS. This survey study is conducted on caregivers of MECP2 Duplication Syndrome to understand the most meaningful symptoms with a goal to develop parent reported outcome measures. Our study is also the first study to investigate the severity of symptoms in MECP2 Duplication Syndrome.
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影响因子：
64.8
作者：
Sztainberg Y;Chen HM;Swann JW;Hao S;Tang B;Wu Z;Tang J;Wan YW;Liu Z;Rigo F;Zoghbi HY
通讯作者：
Zoghbi HY
影响因子：
5.2
作者：
Lugtenberg, Dorien;Kleefstra, Tjitske;de Brouwer, Arjan P. M.
通讯作者：
de Brouwer, Arjan P. M.
DOI：
10.1111/j.1651-2227.1985.tb10993.x
发表时间：
1985-01-01
期刊：
ACTA PAEDIATRICA SCANDINAVICA
影响因子：
--
作者：
HAGBERG, B
通讯作者：
HAGBERG, B
影响因子：
4
作者：
Meins, M;Lehmann, J;Epplen, JT
通讯作者：
Epplen, JT
影响因子：
3.5
作者：
Lim, Z.;Downs, J.;Leonard, H.
通讯作者：
Leonard, H.