Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
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DOI：
10.1186/s13023-016-0422-2
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发表时间：
2016-04-12
影响因子：
3.7
通讯作者：
Hennekam RC
中科院分区：
文献类型：
--
作者：
de Winter CF;Baas M;Bijlsma EK;van Heukelingen J;Routledge S;Hennekam RC
Pitt-Hopkins综合征（PTHS; MIM# 610954）是一种主要由转录因子4（TCF 4）突变引起的遗传性疾病。我们已经开发了一种新的方法来收集信息（超）罕见的疾病，通过一个基于网络的数据库，我们称之为'waihona'（waihona [意思是夏威夷宝藏]百科全书）。我们在医生、社会科学家和家长支持团体的合作下建立了一个夏威夷百科系统。该系统包括一个初步的广泛的调查表，背景的横截面数据，随后的后续行动，使用小的调查表，特别侧重于行为方面。该系统旨在通过互联网使用，确保安全的环境，尊重参与者的隐私，并自动执行，以降低成本并限制数据处理中的人为错误。参与者的招募是通过患者支持小组进行的。此外，作为一个子研究，我们使用的数据从waihonapedia系统比较两个拟议的PTHS诊断分类系统。我们在这里提出的结果，初步的，横断面问卷调查，其中询问早期发展，身体健康，认知和行为，并向特定的PTHS模块添加癫痫和呼吸模式。我们描述了101个人与分子确诊的PTHS诊断。比较两个分类系统，旨在帮助临床诊断进行了47个目前PTHS的个人，与令人失望的结果。需要国际公认的临床诊断标准。目前关于PTHS自然史的横断面数据已经产生了有用的信息，当增加随访数据时，这些信息将进一步增加。毫无疑问，这将改善护理和研究。
Pitt-Hopkins syndrome (PTHS; MIM# 610954) is a genetically determined entity mainly caused by mutations in TransCription Factor 4 (TCF4). We have developed a new way to collect information on (ultra-)rare disorders through a web-based database which we call ‘waihonapedia’ (waihona [meaning treasure in Hawaiian] encyclopaedia). We have built a waihonapedia system in a collaboration between physicians, social scientists, and parent support groups. The system consists of an initial extensive questionnaire for background cross-sectional data, and subsequent follow-up using small questionnaires, with a particular focus on behavioural aspects. The system was built to be used through the internet, ensuring a secure environment, respecting privacy for participants, and acting automated to allow for low costs and limiting human mistakes in data handling. Recruitment of participants is through the patient support groups. In addition, as a sub-study, we used the data from the waihonapedia system to compare the two proposed diagnostic classification systems for PTHS. We present here the results of the initial, cross-sectional questionnaire in which early development, physical health, cognition and behaviour are interrogated, and to which modules specific for PTHS were added on epilepsy and breathing patterns. We describe 101 individuals with a molecularly confirmed diagnosis of PTHS. Comparison of the two classification systems aimed at helping the clinical diagnosis was performed in 47 of the present PTHS individuals, with disappointing results for both. Internationally accepted clinical diagnostic criteria are needed. The present cross-sectional data on the natural history of PTHS have yielded useful information which will further increase when follow-up data will be added. No doubt this will improve both care and research.