Marschik Peter B, Lemcke Sanne, Einspieler Christa, Zhang Dajie, Bölte Sven, Townend Gillian S, Lauritsen Marlene B
a Institute of Physiology, Research Unit iDN - Interdisciplinary Developmental Neuroscience , Medical University of Graz , Graz , Austria.
b Center of Neurodevelopmental Disorders (KIND), Department of Women's and Children's Health , Karolinska Institutet , Stockholm , Sweden.
Dev Neurorehabil. 2018 Jan;21(1):68-72. doi: 10.1080/17518423.2017.1323970. Epub 2017 May 23.
Typically, early (pre-diagnostic) development in individuals later diagnosed with Rett syndrome (RTT) has been investigated retrospectively using parent reports, medical records and analysis of home videos. In recent years, prospective research designs have been increasingly applied to the investigation of early development in individuals with late phenotypical onset disorders, for example, autism spectrum disorder.
In this study, data collected by the Danish National Birth Cohort lent itself to prospective exploration of the early development of RTT, in particular early motor-, speech-language, and socio-communicative behaviors, mood, and sleep.
Despite limitations, this quasi prospective methodology proved promising. In order to add substantially to the body of knowledge, however, specific questions relating to peculiarites in early development could usefully be added to future cohort studies. As this involves considerable work, it may be more realistic to consider a set of indicators which point to a number of developmental disorders rather than to one.
通常情况下，对于后来被诊断为雷特综合征（RTT）的个体，其早期（诊断前）发育情况是通过回顾性研究进行调查的，研究方法包括家长报告、病历以及家庭录像分析。近年来，前瞻性研究设计越来越多地应用于对表型发作较晚的疾病个体（如自闭症谱系障碍）的早期发育调查。
在本研究中，丹麦国家出生队列收集的数据有助于对RTT的早期发育进行前瞻性探索，特别是早期运动、语言、社会交往行为、情绪和睡眠方面。
尽管存在局限性，但这种准前瞻性方法被证明是有前景的。然而，为了大幅增加知识储备，与早期发育特点相关的特定问题可有效地添加到未来的队列研究中。由于这涉及大量工作，考虑一组指向多种发育障碍而非单一障碍的指标可能更现实。
