Recognising signs and symptoms and diagnosing Ring Chromosome 20 Syndrome or r(20)

Описание: This short interview conducted at our recent r(20) Families Conference with Prof Sameer Zuberi, provides a useful insight into recognising the signs and symptoms when looking for a differential diagnosis of r(20) syndrome as cause of epilepsy and what features of r(20) syndrome are unusual, or unique from, what is more commonly seen in other epilepsies.

Often children have been completely well prior to when their epilepsy starts (often in early primary school years), when night seizures begin which may initially go unrecognised.
Clues in the diagnosis are focal seizures characterised by extreme fear and a distinctive EEG pattern of sharp an slow waves from the front of the brain. Tonic clonic seizures may also present.
Importantly Prof Zuberi goes on to explain how to confirm a diagnosis through looking at the chromosomes by ordering karaotype analysis - instead of the more commonly requested and more advanced CGH array based genetic testing which will not detect the ring chromosome in the majority of cases - and why you must test 50-100 cells to detect for mosaicism - the usual 30 cells that labs test for may not be sufficient to confirm a diagnosis.
Children may lose previously acquired skills following seizure onset and should undergo neuropsychological assessments in the beginning of their epilepsy and receive appropriate support in education to help them achieve. Early on a child neuropsychologist, with expertise in epilepsy who understands the impact of epilepsy on learning and behaviour, should be involved in the child's care.

This video represents new and important up-to-date information regards recognising and diagnosing Ring Chromosome 20 Syndrome.

An important educational short video for any epilepsy professional.
We strongly encourage sharing of this video.