Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach

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 investiga...

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Bibliographic Details
Published in:Developmental neurorehabilitation 2018-01, Vol.21 (1), p.68-72
Main Authors: Marschik, Peter B, Lemcke, Sanne, Einspieler, Christa, Zhang, Dajie, Bölte, Sven, Townend, Gillian S, Lauritsen, Marlene B
Format: Article
Language:English
Subjects:
Adolescent
Affect
Brief Report
Child
Child Development
Cohort Studies
Communication
Denmark
Early Diagnosis
Female
Humans
Medicin och hälsovetenskap
Phenotype
Rett Syndrome - diagnosis
Rett Syndrome - epidemiology
Sleep
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Summary: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.
ISSN:1751-8423
1751-8431
1751-8431
DOI:10.1080/17518423.2017.1323970