Rare Disease Day - Angelman Syndrome
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Rare Disease Day - Angelman Syndrome
Das Angelman-Syndrom tritt mit einer Häufigkeit von 1:15.000 auf, wobei es auch oft nicht diagnostiziert wird. Rike ist 16 Jahre alt und leidet an diesem seltenen Gendefekt. Ihre Mutter Conny spricht im Video über ihr Leben mit diesem besonderen Mädchen. Mehr Informationen zum Angelman-Syndrom findet ihr hier: https://angelman.de/ Hier kommt ...
37.9K viewsFeb 28, 2022
Shorts
Children with Angelman syndrome commonly present with delayed motor milestones, gait variability, and challenges with coordination due to differences involving the UBE3A gene and downstream neuro-cerebellar pathways. These factors can influence how their bodies organise movement and respond to new motor tasks. By working collaboratively and intentionally scaffolding Van’s sensory motor system, we help his brain form new pathways while keeping the experience playful and safe. Cat offered bubbles
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