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Marschik, PB; Lemcke, S; Einspieler, C; Zhang, D; Bölte, S; Townend, GS; Lauritsen, MB.
Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach.
Dev Neurorehabil. 2018; 21(1):68-72 Doi: 10.1080/17518423.2017.1323970 [OPEN ACCESS]
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Führende Autor*innen der Med Uni Graz
Marschik Peter
Co-Autor*innen der Med Uni Graz
Einspieler Christa
Marschik Dajie

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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.
Find related publications in this database (using NLM MeSH Indexing)
Adolescent -
Affect -
Child -
Child Development -
Cohort Studies -
Communication -
Denmark -
Early Diagnosis -
Female -
Humans -
Phenotype -
Rett Syndrome - diagnosis
Rett Syndrome - epidemiology
Sleep -

Find related publications in this database (Keywords)
Birth cohort
early development
longitudinal study
parent interviews
Rett syndrome
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