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.
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