Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Pansy, J; Barones, C; Urlesberger, B; Pokorny, FB; Bartl-Pokorny, KD; Verheyen, S; Marschik, PB; Einspieler, C.
Early motor and pre-linguistic verbal development in Prader-Willi syndrome - A case report.
Res Dev Disabil. 2019; 88: 16-21.
Doi: 10.1016/j.ridd.2019.01.012
Web of Science
PubMed
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FullText_MUG
- Führende Autor*innen der Med Uni Graz
- Pansy Jasmin
- Co-Autor*innen der Med Uni Graz
- Bartl-Pokorny Katrin Daniela
- Einspieler Christa
- Marschik Peter
- Pokorny Florian
- Urlesberger Berndt
- Verheyen Sarah
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- Abstract:
- Prader-Willi syndrome (PWS) is a rare genetic disorder. Infants with PWS show a neurodevelopmental dysfunction which entails a delayed motor and language development, but studies on their spontaneous movements (i.e. general movements) or pre-linguistic speech-language development before 6 months of age are missing so far. To describe early motor and pre-linguistic verbal development in an infant with PWS. Prospective case report; in addition to the assessment of general movements and the concurrent movement repertoire, we report on early verbal forms, applying the Stark Assessment of Early Vocal Development-Revised. General movements were abnormal on days 8 and 15. No fidgety movements were observed at 11 weeks; they only emerged at 17 weeks and lasted until at least 27 weeks post-term. The movement character was monotonous, and early motor milestones were only achieved with a delay. At 27 weeks the infant produced age-adequate types of vocalisations. However, none of the canonical-syllable vocalisations that typically emerge at that age were observed. Early vocalisations appeared monotonous and with a peculiarly harmonic structure. Early motor and pre-linguistic verbal behaviours were monotonous in an infant with PWS throughout his first 6 months of life. This suggests that early signs of neurodevelopmental dysfunction (i.e. abnormal general movements) might already be diagnosed in infants with PWS during their first weeks of life, potentially enabling us to diagnose and intervene at an early stage. Copyright © 2019 Elsevier Ltd. All rights reserved.
- Find related publications in this database (Keywords)
- General movements
- General movement assessment
- Motor development
- Verbal development
- Developmental delay