Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

皮特 - 霍普金斯综合征的诊断和治疗 ： 第一个国际共识声明。

• 影响指数: 4.296
• 发表时间: 04 2019
• 来源期刊: Clin Genet
• DOI: 10.1111/cge.13506
• PMID: 30677142
• 文章类型: Consensus Development Conference
• 中科院分区: Q1
• 方向: 生物
• 作者列表: Zollino M,Zweier C,Van Balkom ID,Sweetser DA,Alaimo J,Bijlsma EK,Cody J,Elsea SH,Giurgea I,Macchiaiolo M,Smigiel R,Thibert RL,Benoist I,Clayton-Smith J,De Winter CF,Deckers S,Gandhi A,Huisman S,Kempink D,Kruisinga F,Lamacchia V,Marangi G,Menke L,Mulder P,Nordgren A,Renieri A,Routledge S,Saunders CJ,Stembalska A,Van Balkom H,Whalen S,Hennekam RC

关键词: Pitt-Hopkins syndrome; TCF4; autonomic dysfunction; diagnostic criteria; guidelines; molecular diagnostic pathway; syndromic behavior

Mesh: Age Factors; Combined Modality Therapy; Diagnosis, Differential; Disease Management; Disease Susceptibility; Facies; Genetic Testing; Humans; Hyperventilation / diagnosis etiology therapy; Intellectual Disability / diagnosis etiology therapy; Mutation; Phenotype; Transcription Factor 4 / genetics

Abstract

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. It is caused by variants in the transcription factor TCF4. Heterogeneity in the clinical and molecular diagnostic criteria and care practices has prompted a group of international experts to establish guidelines for diagnostics and care. For issues, for which there was limited information available in international literature, we collaborated with national support groups and the participants of a syndrome specific international conference to obtain further information. Here, we discuss the resultant consensus, including the clinical definition of PTHS and a molecular diagnostic pathway. Recommendations for managing particular health problems such as dysregulated respiration are provided. We emphasize the need for integration of care for physical and behavioral issues. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimization of diagnostics and care.

摘要

皮特-霍普金斯综合征（PTHS）是一种以智力障碍为特征的神经发育障碍，特定的面部特征，和明显的自主神经系统功能障碍，特别是调节呼吸和肠道活动的障碍。它是由转录因子TCF4中的变体引起的。临床和分子诊断标准和护理实践的异质性促使一群国际专家建立诊断和护理指南。对于问题，国际文献中可用的信息有限，我们与国家支持小组和特定于综合症的国际会议的参与者合作，以获得更多信息。这里,我们讨论由此产生的共识，包括PTHS的临床定义和分子诊断途径。提供了用于管理诸如呼吸失调之类的特定健康问题的建议。我们强调需要整合身体和行为问题的护理。此处提出的建议需要进行评估以进行改进，以继续优化诊断和护理。