An Australian tuberous sclerosis cohort: Are surveillance guidelines being met?
An Australian tuberous sclerosis cohort: Are surveillance guidelines being met?
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DOI：
10.1111/j.1440-1754.2011.02038.x
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发表时间：
2011-10-01
影响因子：
1.7
通讯作者：
Mowat, David
中科院分区：
文献类型：
--
作者：
Chopra, Maya;Lawson, John A.;Mowat, David
目的：本研究的目的是描述45例澳大利亚结节性硬化症（TSC）患者的表型和基因型特征，评估智力残疾的危险因素，比较TSC 1和TSC 2突变的患者，并评估遵守监督recommendations.Methods：表型特征记录在45例患者谁符合明确的TSC诊断的既定标准。所有患者均接受TSC 1和TSC 2测序和多重配体探针扩增。比较了TSC 1突变与TSC 2突变患者的特征。最近的监视记录在第一次接触时。监测坚持在成人和儿科cohols.Results：这个队列包括31名儿童和14名成人明确TSC。TSC表现率和TSC 1和TSC 2突变检出率与既往研究一致。与TSC 1对应者相比，TSC 2突变患者的严重程度有增加的趋势，特别是自闭症谱系障碍，但这并没有达到统计学显著性。癫痫发作是智力残疾的危险因素（P < 0.001）。总体而言，12/45例患者（27%）在首次接触时未接受建议的监测。3/31（11%）的儿童患者和9/14（64%）的成人患者遵守了监测指南（P < 0.05）。成人患者的监测率明显低于儿科患者。这突出表明，TSC患者需要接受集中过渡到成人服务。
Aim: This study aims to describe the phenotypic and genotypic characteristics of 45 Australian patients with tuberous sclerosis complex (TSC), to assess risk factors for intellectual disability, to compare patients with TSC1 and TSC2 mutations and to assess adherence to surveillance recommendations.Methods: Phenotypic features were recorded in 45 patients who fulfilled established criteria for a diagnosis of definite TSC. All patients underwent TSC1 and TSC2 sequencing and multiplex ligand probe amplification. Features were compared in patients with TSC1 mutations versus TSC2 mutations. Recent surveillance was recorded at the point of first contact. Surveillance adherence was compared in the adult and paediatric cohorts.Results: This cohort consisted of 31 children and 14 adults with definite TSC. The rates of TSC manifestations and TSC1 and TSC2 mutation detection rates were consistent with previous studies. There was a trend towards greater severity for patients with TSC2 mutations compared with their TSC1 counterparts, particularly for autistic spectrum disorder, but this did not reach statistical significance. The presence of seizures was shown to be a risk factor for intellectual disability (P < 0.001). Overall, 12/45 patients (27%) were not undergoing recommended surveillance at the point of first contact. Surveillance guidelines were being followed in 3/31 (11%) children compared with 9/14 (64%) adult patients (P < 0.05).Conclusions: The genotypic and phenotypic characteristics of this TSC cohort were consistent with previous studies. Surveillance rates in adult patients were significantly lower than in paediatric patients. This highlights the need for patients with TSC to undergo a focussed transition into adult services.