Low Dose Perampanel to Improve Cognition & Sleep in SYNGAP1

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Minnie Zhou is a SYNGAP1 Mom to Hayden and was featured in a recent Chicago Tribune article. Here, Minnie summarizes her experience with treating her daughter with Perampanel. Read the full case report here.

“She was about 2 years and 2 months when she started taking low-dose perampanel. Prior to that, she woke up from sleep at night at least 2-3 times a week. We were not getting any restful sleep as a family. Life was tough for us. Her night time waking dropped from 2-3 nights a week to 1 night a week in the first week and by the third week, she no longer woke up in the middle of the night. Even now after about 2 years on the drug, she barely wakes up in the middle of the night unless she is coming down with sickness. She also did not have much receptive language before perampanel. We could not be certain if she had much understanding of the world around her.

The progress she has made after perampanel was immediate and hard to miss. About a week after she started taking perampanel, she walked independently for the first time. About few months in taking perampanel, we noticed that she is following more commands, she is progressing a lot more with her therapies. I remember her BCBA showed me her progress in charts and told me “I haven’t seen this much progress shown in a child in such a short amount of time, kids usually show progress, and they plateau a little bit but I have not seen that in her, whatever you are giving her, it’s working!”

We are seeing her transitioning out of babyhood into toddlerhood from a helpless baby to an opinionated toddler who wants her independence.

When she was a little over 2 and half years old, one of her therapists sent me a video of her pointing at letters A and O in a sheet of paper and reading it out loud. I was in awe, because I had no idea that she knew her letters! By the time she was 3 years old, she knew her letters, color, shapes, animals… improvement in her cognition was obvious. Fast forward to 2 years later, all her teachers, therapists, even developmental pediatrician would describe her as “intelligent” in their reports. She also actively participates in school and therapies and is always excited to learn.

Her gross motor development took off and she was able to ride a tricycle, go play in playgrounds by the time she was 3 years old. It was a drastic improvement! At age 5, currently, she is able to participate in gymnastic class, swimming, jump on trampoline, ride the scooter, shooting basketball to name a few. Her physical development has not plateaued.

Improvement on fine motor is also apparent. She was having so much trouble with pincer grasp even at age two prior to perampanel. She was able to master her pincer grasp within a few months. She is able to zip and unzip zippers, she can open medicine bottles, she can do puzzles and stack blocks with ease, she can isolate her fingers and make different gestures and signs. She actively participates in fine motor activities at school.

In terms of speech, her progress has not plateaued. Even though verbal language is still minimal, she is able use functional communications such as signs, gestures, and her AAC communication device. Her speech therapist noted that she learns very quickly on the AAC device. She has a lot more word approximations. She is able to call me “mama” and call her dad “baba” (Chinese for dad) for the first time intentionally when she was 4 years old. She’s able to talk about emotions and answer “wh” questions on her AAC device.

Over the course of 2 years that she has been on perampanel, her seizures have evolved and gotten harder to control as she grew older. She’s now on CBD and Depakote besides perampanel, but her development has not slowed down even though seizure have worsen.  She is mentally alert and ready to learn and engage at baseline. I do not want to give the impression that my child became normal after perampanel, she still greatly affected by SynGAP, but comparing her pre and post perampanel in every aspect, her improvement is drastic. I firmly believe that perampanel changed her developmental trajectory.”