Reverse Rett Bitesize: Rett Syndrome – From Genes to Symptoms
Автор: Reverse Rett
Загружено: 2025-03-07
Просмотров: 118
In this Reverse Rett Bitesize session, we have the pleasure of welcoming Dr Singh and Professor Santosh of the CIPP Rett Centre and South London and Maudsley NHS Foundation Trust.
Most families of people with Rett syndrome know the symptoms back to front. In this session, Dr Singh and Professor Santosh will provide insight into some of the less talked about aspects of Rett including:
Why do irregularities in the MECP2 gene manifest into the symptoms people with Rett face?
Why is the diagnosis still clinical when we know the MECP2 gene causes most cases of Rett?
What is autonomic dysregulation?
Why do most children with Rett syndrome appear to be healthy from birth and only develop symptoms as toddlers?
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