Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures

被引：7

作者：

Ak, Muharrem ^{[1
]}

Suter, Bernhard ^{[1
,2
]}

Akturk, Zekeriya ^{[3
]}

Harris, Holly ^{[4
]}

Bowyer, Kristina ^{[5
]}

Mignon, Laurence ^{[5
]}

Pasupuleti, Sasidhar ^{[6
]}

Glaze, Daniel G. ^{[1
,2
]}

Pehlivan, Davut ^{[1
,2
]}

机构：

[1] Baylor Coll Med, Sect Pediat Neurol & Dev Neurosci, Dept Pediat, Houston, TX 77030 USA

[2] Texas Childrens Hosp, Blue Bird Circle Rett Ctr, 6701 Fannin St Suite 1250, Houston, TX 77030 USA

[3] Tech Univ Munich, Sch Med, Inst Gen Practice & Hlth Serv Res, Munich, Germany

[4] Meyer Ctr Dev Pediat, Houston, TX USA

[5] IONIS Pharmaceut, Carlsbad, CA USA

[6] Texas Childrens Hosp, Bioinformat Core, Jan & Duncan Neurol Res Inst, Houston, TX 77030 USA

来源：

MOLECULAR GENETICS & GENOMIC MEDICINE | 2022年 / 10卷 / 08期

关键词：

communication; constipation; epilepsy; fine motor; gross motor; infection; meaningfulness survey; MECP2 duplication syndrome; SEVERE MENTAL-RETARDATION; RETT-SYNDROME; PREVALENCE; PHENOTYPE; EPILEPSY;

D O I：

10.1002/mgg3.1989

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: 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. Methods: 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. Results: 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, similar to 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. Conclusion: 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.

引用

页数：12