Danielle Williams is a SynGAP parent leader in Australia and a member of the SynGAP Global Network.
An important paper which studied 57 SynGAPians was published last month in Neurology. This article summarizes five things you need to know about this paper whether you are a parent, sibling, caregiver or medical professional who cares for a SynGAPian.
We received a SynGAP diagnosis for both of our daughters in February 2016. As we struggled with the diagnosis, we were hungry for information about SynGAP. We wanted information about the symptoms we were seeing and what to prepare for. With fellow SynGAP mum, Laura Ma and the support from two of the American Syngap organization founders — Rebecca Kohlhepp and Monica Weldon — we created a survey.
Laura and I spent hours compiling the report which was the first source of useful Syngap patient data we had seen. It began to answer the questions that kept us up at night (if our kids weren’t already!). Questions like: how many have seizures? What types of seizures do they have? What are their triggers? Do they have behavioral issues? Do they have autism? Do they talk? Are they mobile?
In our next appointment with our neurologist Professor Ingrid Scheffer, I proudly presented this report. Ingrid is a globally recognized epilepsy physician-researcher and singing her praises here would make this article too long. Put simply, she is one of the heroes of our medical journey.
On that day, Ingrid looked at the report & rolled her eyes (her version differs). But she said, “I’ll get a team to validate this.” And that is what makes Ingrid so incredible, two years later her ‘validation’ is the largest study of SynGAPians to date in the best Journal for Neurology.
For diagnosed, this paper will help parents & physicians partner to understand how SynGAPians evolve and present. Unique seizures and predictable developments no longer need to be a surprise or the subject of raised eyebrows during valuable clinical conversations.
For undiagnosed patients — and we suspect there are many — the paper will be a critical tool to assist neurologists to make earlier diagnoses, in turn minimizing painful and unnecessary treatment trials for them.
This paper makes many important points but here are three that SynGAP parents and their physicians should be aware of.
First, it identifies a new seizure type: eyelid flutters followed by a drop (eyelid myoclonia followed by myoclonic-atonic seizures). It also validates two other recent SynGAP publications:
Second, it reaffirms the connection between SynGAP and sensory processing issues which was also discussed in November in SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits. Michaelson et. al. Nature Neuroscience, 2018.
Third, it notes the correlation between Syngap and eating as a seizure trigger which is the focus of a concurrent paper Chewing induced reflex seizures („eating epilepsy“) and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: review of literature and report of 8 cases by Stülpnagel et. al. Seizure, 2018
I’m grateful to be involved with Prof. Scheffer and her team on this project. The two young doctors who drove the project Dr Ben Shaw and Dr Danique Vlaskamp, are incredible people. Danique received her PhDs along the way!
We encourage every parent to connect with researchers at every opportunity. If you are visiting their city, ask if you can come to their labs, with your child/patient. Let them know how much their work matters and encourage them to keep going. As this study shows, their work requires our input and our kids require their dedication and talent.
All parties benefit when great doctors believe in the power of driven parents & those parents harness their collective skills.
Please read this paper. It is full of important information about SynGAP. Please print it out and take it to all your doctors and therapists. But just to give you a taste, to follow are some interesting statistics about the 57 patients reviewed.