Cohen Rony, Genizi Jacob, Korenrich Liora
Department of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
NF1 and Other Neurocutaneous Disorders Clinic, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
Front Neurol. 2021 Oct 22;12:673583. doi: 10.3389/fneur.2021.673583. eCollection 2021.
Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous genetic disorder. The clinical manifestations are extensive and include neurological, dermatological, cardiac, ophthalmic, nephrological, and neuropsychiatric manifestations. The prediction and pathophysiology of neuropsychiatric disorders such as emotional symptoms, conduct problems, hyperactivity, and poor social behavior are poorly understood. The aim of the study was to diagnose neuropsychiatric symptoms in individuals with TSC, and to examine their possible correlations with quantity, magnitude, and spatial location of tubers and radial migration (RM) lines. The cohort comprised 16 individuals with TSC, aged 5-29 years, with normal or low normal intelligence. The participants or their parents were requested to fill Strengths and Difficulties Questionnaire (SDQ) and the TAND (TSC-associated neuropsychiatric disorders) Checklist for assessment of their neuropsychiatric symptoms. Correlations were examined between these symptoms and the magnitude, quantities, and locations of tubers and white matter RM lines, as identified in T2/FLAIR brain MRI scans. The SDQ score for peer relationship problems showed correlation with the tuber load ( = 0.52, < 0.05). Tuber load and learning difficulties correlated significantly in the temporal and parietal area. Mood swings correlated with tubers in the parietal area ( = 0.529, < 0.05). RM lines in the temporal area correlated with abnormal total SDQ ( = 0.51, < 0.05). Anxiety and extreme shyness were correlated with RM lines in the parietal area, = 0.513, < 0.05 and = 0.593, < 0.05, respectively. Hyperactive/inattention correlated negatively with RM lines in the parietal area ( = -707, < 0.01). These observations may lead to future studies for precise localization of neuropsychiatric symptoms, thereby facilitating directed therapy.
结节性硬化症（TSC）是一种多系统神经皮肤遗传性疾病。其临床表现广泛，包括神经、皮肤、心脏、眼科、肾脏和神经精神方面的表现。对于诸如情绪症状、行为问题、多动和社交行为不佳等神经精神障碍的预测和病理生理学了解甚少。本研究的目的是诊断TSC患者的神经精神症状，并检查它们与结节的数量、大小和空间位置以及放射状迁移（RM）线之间的可能相关性。该队列包括16名年龄在5至29岁之间、智力正常或略低于正常水平的TSC患者。要求参与者或其父母填写优势与困难问卷（SDQ）以及TAND（TSC相关神经精神障碍）检查表，以评估他们的神经精神症状。在T2/FLAIR脑MRI扫描中确定的这些症状与结节以及白质RM线的大小、数量和位置之间进行相关性检查。同伴关系问题的SDQ评分与结节负荷相关（= 0.52，< 0.05）。结节负荷与颞叶和顶叶区域的学习困难显著相关。情绪波动与顶叶区域的结节相关（= 0.529，< 0.05）。颞叶区域的RM线与异常总SDQ相关（= 0.51，< 0.05）。焦虑和极度害羞分别与顶叶区域的RM线相关，= 0.513，< 0.05和= 0.593，< 0.05。多动/注意力不集中与顶叶区域的RM线呈负相关（= -707，< 0.01）。这些观察结果可能会促使未来开展研究，以精确确定神经精神症状的定位，从而促进针对性治疗。
