Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D‐related neurodevelopmental disorder

智力残疾 张力减退 适应行为量表 神经发育障碍 粗大运动技能 巨头畸形 自闭症 生活质量(医疗保健) 心理学 医学 儿科 运动技能 精神科 心理治疗师
作者
Khemika K. Sudnawa,Nicoló Pini,Wenxing Li,Cara H. Kanner,Joseph Ryu,Sean Calamia,Jennifer Bain,Sylvie Goldman,Jacqueline Montes,Yufeng Shen,Wendy K. Chung
出处
期刊:Clinical Genetics [Wiley]
卷期号:107 (1): 34-43 被引量:1
标识
DOI:10.1111/cge.14612
摘要

Abstract Protein phosphatase 2 regulatory subunit B56δ related neurodevelopmental disorder ( PPP2R5D‐ related NDD) is largely caused by de novo heterozygous missense PPP2R5D variants. We report medical characteristics, longitudinal adaptive functioning, and in‐person neurological, motor, cognitive, and electroencephalogram (EEG) activity for PPP2R5D‐ related NDD. Forty‐two individuals (median age 6 years, range = 0.8–25.3) with pathogenic/likely pathogenic PPP2R5D variants were assessed, and almost all variants were missense (97.6%) and de novo (85.7%). Common clinical symptoms were developmental delay, hypotonia, macrocephaly, seizures, autism, behavioral challenges, and sleep problems. The mean Gross motor functional measure‐66 was 60.2 ± 17.3% and the mean Revised upper limb module score was 25.9 ± 8.8. The Vineland‐3 adaptive behavior composite score (VABS‐3 ABC) at baseline was low ( M = 61.7 ± 16.8). VABS‐3 growth scale value scores increased from baseline in all subdomains (range = 0.6–5.9) after a mean follow‐up of 1.3 ± 0.3 years. EEG beta and gamma power were negatively correlated with VABS‐3 score; p < 0.05. Individuals had a mean Quality‐of‐life inventory‐disability score of 74.7 ± 11.4. Twenty caregivers (80%) had a risk of burnout based on the Caregiver burden inventory. Overall, the most common clinical manifestations of PPP2R5D‐ related NDD were impaired cognitive, adaptive function, and motor skills; and EEG activity was associated with adaptive functioning. This clinical characterization describes the natural history in preparation for clinical trials.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
1秒前
崔悦欣发布了新的文献求助10
1秒前
希望天下0贩的0应助kk子采纳,获得10
2秒前
丰富的不惜完成签到,获得积分10
4秒前
票子发布了新的文献求助10
4秒前
华仔应助魏莱采纳,获得10
4秒前
F123发布了新的文献求助10
5秒前
shen发布了新的文献求助10
6秒前
6秒前
苗觉觉完成签到,获得积分10
7秒前
帕金森完成签到,获得积分10
8秒前
活力的妙芙完成签到,获得积分10
8秒前
赘婿应助疯子魔煞采纳,获得10
9秒前
橙橙橙完成签到,获得积分10
9秒前
9秒前
你好CDY完成签到,获得积分10
10秒前
10秒前
10秒前
万能图书馆应助希尔伯特采纳,获得10
10秒前
我是老大应助123采纳,获得10
11秒前
芒果小鹌鹑完成签到,获得积分10
12秒前
上官若男应助F123采纳,获得10
13秒前
Singularity应助邢文瑞采纳,获得10
14秒前
c123发布了新的文献求助10
15秒前
嘉嘉琦发布了新的文献求助10
16秒前
wanci应助QWDSA采纳,获得10
18秒前
18秒前
愉快静曼发布了新的文献求助10
21秒前
乐乐乐乐乐乐应助科学家采纳,获得10
22秒前
99完成签到,获得积分10
22秒前
22秒前
友好傲白完成签到,获得积分10
22秒前
FL完成签到 ,获得积分10
23秒前
量子星尘发布了新的文献求助10
24秒前
清新的绿海完成签到,获得积分10
24秒前
山色青完成签到,获得积分10
25秒前
25秒前
ya完成签到,获得积分10
25秒前
等风来完成签到 ,获得积分10
26秒前
疯子魔煞完成签到,获得积分10
26秒前
高分求助中
【提示信息,请勿应助】关于scihub 10000
Les Mantodea de Guyane: Insecta, Polyneoptera [The Mantids of French Guiana] 3000
徐淮辽南地区新元古代叠层石及生物地层 3000
The Mother of All Tableaux: Order, Equivalence, and Geometry in the Large-scale Structure of Optimality Theory 3000
Global Eyelash Assessment scale (GEA) 1000
Picture Books with Same-sex Parented Families: Unintentional Censorship 550
Research on Disturbance Rejection Control Algorithm for Aerial Operation Robots 500
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 4038446
求助须知:如何正确求助?哪些是违规求助? 3576149
关于积分的说明 11374627
捐赠科研通 3305875
什么是DOI,文献DOI怎么找? 1819354
邀请新用户注册赠送积分活动 892680
科研通“疑难数据库(出版商)”最低求助积分说明 815048