Research in developmental disabilities · 2019
Early motor and pre-linguistic verbal development in Prader-Willi syndrome - A case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Pansy Jasmin, Barones Cornelia, Urlesberger Berndt, Pokorny Florian B, Bartl-Pokorny Katrin D, Verheyen Sarah, Marschik Peter B, Einspieler Christa
Аннотация
BACKGROUND: 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.
AIM: To describe early motor and pre-linguistic verbal development in an infant with PWS.
METHODS AND PROCEDURES: 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.
OUTCOMES AND RESULTS: 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.
CONCLUSIONS AND IMPLICATIONS: 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.
AIM: To describe early motor and pre-linguistic verbal development in an infant with PWS.
METHODS AND PROCEDURES: 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.
OUTCOMES AND RESULTS: 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.
CONCLUSIONS AND IMPLICATIONS: 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.