Chopra Maya, Lawson John A, Wilson Meredith, Kennedy Sean E, Taylor Peter, Buckley Michael F, Wargon Orli, Parasivam Gayathri, Camphausen Christoph, Yates Deborah, Mowat David
The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, Australia.
J Paediatr Child Health. 2011 Oct;47(10):711-6. doi: 10.1111/j.1440-1754.2011.02038.x. Epub 2011 Mar 30.
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.
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.
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).
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.
本研究旨在描述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TSC1和TSC2基因突变的患者，并评估对监测建议的依从性。
记录45例符合确诊TSC既定标准患者的表型特征。所有患者均进行TSC1和TSC2测序以及多重配体探针扩增。比较TSC1基因突变患者与TSC2基因突变患者的特征。在首次接触时记录近期监测情况。比较成人和儿童队列中监测的依从性。
该队列包括31名儿童和14名确诊TSC的成人。TSC表现率以及TSC1和TSC2基因突变检测率与先前研究一致。与TSC1基因突变患者相比，TSC2基因突变患者有症状更严重的趋势，尤其是在自闭症谱系障碍方面，但未达到统计学意义。癫痫发作被证明是智力残疾的一个危险因素（P<0.001）。总体而言，12/45例患者（27%）在首次接触时未接受推荐的监测。3/31例（11%）儿童遵循了监测指南，而成人患者为9/14例（64%）（P<0.05）。
该TSC队列的基因型和表型特征与先前研究一致。成人患者的监测率显著低于儿童患者。这凸显了TSC患者需要重点过渡到成人医疗服务的必要性。
