Sleep disturbance is a common feature of Kabuki syndrome.
Sleep disturbance is a common feature of Kabuki syndrome.
复制标题
DOI：
10.1002/ajmg.a.62921
复制
发表时间：
2022-10
影响因子：
2
通讯作者：
Harris, Jacqueline
中科院分区：
文献类型：
--
作者：
Rapp, Tyler;Kalinousky, Allison J.;Johnson, Jennifer;Bjornsson, Hans;Harris, Jacqueline
歌舞伎综合征(KS)是一种罕见的表观遗传学疾病，由KMT2D(90%)或KDM6A(10%)功能变异杂合性丢失引起，这两个基因都参与了组蛋白甲基化的调节。虽然其他表观遗传机制的孟德尔障碍中的睡眠障碍已经被报道，但还没有关于KS睡眠的研究。这项研究使用有效的睡眠问卷评估了59名KS参与者的睡眠。参与者的年龄从4岁到43岁不等，其中86%的参与者具有KMT2D致病变异。此外，使用他们各自的问卷收集了关于适应功能、行为、焦虑和生活质量的数据。71%的参与者存在某种形式的睡眠问题，其中夜间醒来、白天困倦和入睡延迟最为普遍。睡眠障碍与不良适应行为、焦虑水平和生活质量下降呈正相关。睡眠问题与适应功能无关。这项研究将睡眠障碍确立为KS的共同特征。定量睡眠测量可能是KS临床试验的一种有用的结果测量。此外，护理KS患者的临床医生应该将睡眠障碍视为影响这些患者整体健康和福祉的一个重要特征。
Kabuki syndrome (KS) is a rare epigenetic disorder caused by heterozygous loss of function variants in either KMT2D (90%) or KDM6A (10%), both involved in regulation of histone methylation. While sleep disturbance in other Mendelian disorders of the epigenetic machinery have been reported, no study has been conducted on sleep in KS. This study assessed sleep in 59 participants with KS using a validated sleep questionnaire. Participants ranged in age from 4 to 43 years old with 86% of participants having a pathogenic variant in KMT2D. In addition, data on adaptive function, behavior, anxiety, and quality of life were collected using their own respective questionnaires. Some form of sleep issue was present in 71% of participants, with night-waking, daytime sleepiness, and sleep onset delay being the most prevalent. Sleep dysfunction was positively correlated with maladaptive behaviors, anxiety levels, and decreasing quality of life. Sleep issues were not correlated with adaptive function. This study establishes sleep disturbance as a common feature of KS. Quantitative sleep measures may be a useful outcome measure for clinical trials in KS. Further, clinicians caring for those with KS should consider sleep dysfunction as an important feature that impacts overall health and wellbeing in these patients.
登录
查看更多内容
DOI：
10.1002/ajmg.a.62124
发表时间：
2021-06
期刊：
American journal of medical genetics. Part A
影响因子：
--
作者：
Sheppard SE;Campbell IM;Harr MH;Gold N;Li D;Bjornsson HT;Cohen JS;Fahrner JA;Fatemi A;Harris JR;Nowak C;Stevens CA;Grand K;Au M;Graham JM Jr;Sanchez-Lara PA;Campo MD;Jones MC;Abdul-Rahman O;Alkuraya FS;Bassetti JA;Bergstrom K;Bhoj E;Dugan S;Kaplan JD;Derar N;Gripp KW;Hauser N;Innes AM;Keena B;Kodra N;Miller R;Nelson B;Nowaczyk MJ;Rahbeeni Z;Ben-Shachar S;Shieh JT;Slavotinek A;Sobering AK;Abbott MA;Allain DC;Amlie-Wolf L;Au PYB;Bedoukian E;Beek G;Barry J;Berg J;Bernstein JA;Cytrynbaum C;Chung BH;Donoghue S;Dorrani N;Eaton A;Flores-Daboub JA;Dubbs H;Felix CA;Fong CT;Fung JLF;Gangaram B;Goldstein A;Greenberg R;Ha TK;Hersh J;Izumi K;Kallish S;Kravets E;Kwok PY;Jobling RK;Knight Johnson AE;Kushner J;Lee BH;Levin B;Lindstrom K;Manickam K;Mardach R;McCormick E;McLeod DR;Mentch FD;Minks K;Muraresku C;Nelson SF;Porazzi P;Pichurin PN;Powell-Hamilton NN;Powis Z;Ritter A;Rogers C;Rohena L;Ronspies C;Schroeder A;Stark Z;Starr L;Stoler J;Suwannarat P;Velinov M;Weksberg R;Wilnai Y;Zadeh N;Zand DJ;Falk MJ;Hakonarson H;Zackai EH;Quintero-Rivera F
通讯作者：
Quintero-Rivera F
影响因子：
3.6
作者：
Harris, J.;Mahone, E. M.;Bjornsson, H. T.
通讯作者：
Bjornsson, H. T.
影响因子：
4.6
作者：
Forrest, Christopher B.;Ravens-Sieberer, Ulrike;Bevans, Katherine B.
通讯作者：
Bevans, Katherine B.
DOI：
10.1002/ajmg.1320310312
发表时间：
1988-11-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
NIIKAWA, N;KUROKI, Y;SCHMID, E
通讯作者：
SCHMID, E
影响因子：
3.8
作者：
Bornstein, Marc H.;Hahn, Chun-Shin;Suwalsky, Joan T. D.
通讯作者：
Suwalsky, Joan T. D.