UNASSIGNED: Clinical data from physician\'s clinic notes; genetic testing reports; developmental scores from occupational therapy, physical therapy, speech and language therapy evaluations; and applied behavioral analysis reports were reviewed. Developmental assessments and EEG analysis were done pre- and post-PER.
UNASSIGNED: Clinically, the patient showed improvements in the developmental profile and sleep quality post-PER. EEG spectral power analysis in our patient revealed a loss of gamma power modulation with behavioral-state transitions similar to what was observed in Syngap1+/- mice. Furthermore, the administration of low-dose PER rescued the dysfunctional cortical gamma homeostasis, similar to the preclinical study. However, as in the epileptic mice, PER did not curb epileptiform discharges or clinical seizures.
UNASSIGNED: Similar to the Syngap1+/- mice, cortical gamma homeostasis was dysregulated in the patient. This dysfunction was rescued by PER. These encouraging results necessitate further validation of gamma dysregulation as a potential translational EEG biomarker in SYNAP1-DEE. Low-dose PER can be explored as a therapeutic option through clinical trials.
■来自医生临床记录的临床数据;基因检测报告;职业治疗的发展评分,物理治疗,言语和语言治疗评估;以及应用行为分析报告进行了审查。在PER前后进行发育评估和脑电图分析。
■临床,患者在PER后表现出发育状况和睡眠质量的改善.我们患者的EEG频谱功率分析显示,行为状态转变的伽马功率调制损失与Syngap1/-小鼠中观察到的相似。此外,低剂量PER的施用拯救了功能失调的皮层γ稳态,类似于临床前研究。然而,就像癫痫小鼠一样,PER不能抑制癫痫样放电或临床癫痫发作。
■类似于Syngap1+/-小鼠,患者皮质γ稳态失调.这种功能障碍是由PER挽救的。这些令人鼓舞的结果需要进一步验证作为SYNAP1-DEE中潜在的翻译EEG生物标志物的γ失调。可以通过临床试验探索低剂量PER作为治疗选择。