Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy.
Department of Developmental Psychology and Socialization, University of Padua, Padua, Italy.
Dev Med Child Neurol. 2019 Feb;61(2):168-173. doi: 10.1111/dmcn.14055. Epub 2018 Oct 9.
We aimed to study tuberous sclerosis-associated neuropsychiatric disorders (TAND) in children and adolescents with tuberous sclerosis complex (TSC).
Retrospective and prospective cohort study conducted at a Paediatric Neurology Unit of an Italian Tertiary Care Hospital. Clinical and neuroimaging data were reviewed. Scores for neurological and epilepsy outcomes (Extended Glasgow Outcome Scale, Paediatric Version and Early Childhood Epilepsy Severity Scale modified), semi-structured interviews (authorized Italian version of the TAND checklist and Vineland Adaptive Behavior Scales) and questionnaires (Child Behavior Checklist [CBCL]) were applied at last follow-up.
Thirty-two patients with TSC (age range 1-19y) were enrolled. Eighty-eight per cent had at least one TAND and 47% had intellectual disability. The TAND checklist showed internalizing problems in 25.8% of cases (vs 41.9% by CBCL), and externalizing problems in 41.9% (vs 9.7% by CBCL). TAND prevailed in patients with de novo mutation of TSC2, high tuber load, and severe neurological and epilepsy outcomes.
In our cohort, 78% of patients had more than four TAND behavioural problems; nevertheless, they did not show a constant and specific neuropsychiatric profile. Clinical, neurophysiological, and neuroradiological features were associated with several TAND. The TAND checklist appeared more effective than the CBCL, particularly in detecting externalizing problems.
The Tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist is an effective tool for TAND screening. The TAND checklist helps define psychopathological and neuropsychiatric aspects in paediatric patients with Tuberous sclerosis complex (TSC). TAND were found in 88% of patients with TSC, whilst 78% had more than four TAND. TAND distribution depends on different clinical and neuroradiological features.
我们旨在研究结节性硬化症相关神经精神障碍（TAND）在结节性硬化症患儿中的表现。
这是在意大利一家三级保健医院的儿科神经病学单位进行的回顾性和前瞻性队列研究。回顾了临床和神经影像学数据。在最后一次随访时应用了神经和癫痫结局评分（扩展格拉斯哥结局量表，儿科版和早期儿童癫痫严重程度量表修订版）、半结构化访谈（TAND 检查表和韦氏儿童智力量表的授权意大利语版本）和问卷（儿童行为检查表[CBCL]）。
共纳入 32 例 TSC 患儿（年龄 1-19 岁）。88%的患儿至少有一种 TAND，47%的患儿存在智力障碍。TAND 检查表显示有 25.8%的病例存在内化问题（CBCL 为 41.9%），41.9%的病例存在外化问题（CBCL 为 9.7%）。在 TSC2 基因突变、高结节负荷、严重神经和癫痫结局的患者中，TAND 更为常见。
在我们的队列中，78%的患者有超过四种 TAND 行为问题；然而，他们并没有表现出一种恒定而特异的神经精神特征。临床、神经生理学和神经影像学特征与多种 TAND 相关。TAND 检查表比 CBCL 更有效，特别是在检测外化问题方面。
Tuberous sclerosis-associated neuropsychiatric disorders（TAND）检查表是一种有效的 TAND 筛查工具。TAND 检查表有助于确定小儿结节性硬化症患者的精神病理学和神经心理学方面。在 TSC 患儿中，88%存在 TAND，78%存在超过四种 TAND。TAND 的分布取决于不同的临床和神经影像学特征。
