Low Glycemic Index Therapy, Ketogenic Diet, and Supplements as Treatments for Angelman Syndrome

Quick Overview

Dr. Jessica Duis presented on the use of low glycemic index therapy, ketogenic diet, and supplements as treatments for Angelman Syndrome. The low glycemic index treatment has been shown to be successful in treating seizures and changing EEG patterns in individuals with Angelman Syndrome. There is also evidence that supplements, such as MCT oil, levocarnitine, and coenzyme Q10, may have additional benefits beyond seizures, including cognitive improvement. The ketogenic diet, which restricts carbohydrates and increases fat and protein intake, can also be effective in managing seizures and stabilizing mitochondrial function. Dr. Duis emphasized the importance of working with a dietician and physician when considering these treatments and monitoring lab work to ensure safety and effectiveness.

Hello, and good evening. My name is Jim Kubicza. I am a volunteer on the Board of Directors with the ASF.

I reside in Cheshire, Connecticut, with my beautiful wife, Jenn, and sons Lincoln, who is 12, and Cole, who is 10. Cole was diagnosed with Angelman Syndrome in June of 2012. I’m proud to be here tonight to present to you Dr. Jessica Duis, and I have a couple notes. I apologize for this.

I’ll scroll up on my screen. Dr. Duis started the ASF Angelman Syndrome Clinic at Vanderbilt University Medical Center in Nashville, Tennessee. She is now the head of the new ASF Angelman Syndrome Clinic at Children’s Hospital Colorado. She is an Associate Assistant Professor at the University of Colorado School of Medicine, teaching pediatrics, clinical genetics, and metabolism.

So I present to you Dr. Jessica Duis. Well, I’m going to be talking tonight about ketogenic diet and low glycemic index therapy, as well as supplements. And when I was preparing for this presentation, I actually asked some parents what it was they would like to hear about.

Why Consider Diet Therapy for Angelman Syndrome?

There has been a lot of work on this, a lot of which has come out of Massachusetts General Hospital, showing that low glycemic index treatment, in particular, can be very successful in treating seizures and changing EEG patterns for individuals with Angelman Syndrome. There’s also been some work done on some supplements that, with the goal of increasing the level of ketosis, that have shown that there may be other benefits beyond seizures for diet, including some developmental and behavioral impact as well. So this is why, in our clinic, and we encourage many to always talk about diet with families who have kids with Angelman Syndrome, because we do feel like it has a lot of impact, even beyond seizures, for kids who don’t have seizures. We’re still trying to understand the mechanism of how the ketogenic diet works.

How Does the Ketogenic Diet Work?

We think that it impacts the balance between the inhibitory neurotransmitter in the brain called GABA, and the activating neurotransmitter in the brain called glutamine. And we know that there is already an imbalance of these neurotransmitters in Angelman Syndrome. Our goal with ketogenic diet is that it tips that balance more towards GABA as a neurotransmitter in the brain, which is inhibitory. And so it also plays a role in inhibiting neurotransmission by glutamine, by activating transporters in the brain.

There’s also a lot of information about the function of the powerhouse of the cell called the mitochondria in Angelman Syndrome. And we think that the ketogenic diet helps stabilize that part of the cell that may not be functioning properly in Angelman Syndrome.

Types of Ketogenic Diets

There are different types of ketogenic diets that we think about, or types of diets that decrease the amount of carbohydrates and increase the amount of protein and fat in the diet. A typical regular diet has quite a bit of carbohydrates. And as we move towards low glycemic index therapy, we focus more on fats and low glycemic index carbohydrates, which we’re going to talk about, and then increase the ratio of protein. And as you get more strict through the ketogenic diets, you’re increasing the fat, in particular, to higher levels of fat. So when we think about these diets, the ketogenic diet, which is less than 10 grams of carbohydrates a day, is the most restrictive. And when we think about low glycemic index therapy, we’re really focusing on those healthy types of carbohydrates, the low glycemic index carbohydrates. But we’re still limiting carbohydrates significantly to 40 to 60 grams per day. And then the modified Atkins is in between that at 10 to 20 grams of net carbs per day.

Starting the Diet

When you’re thinking about going on diet, we often do a pretty extensive evaluation, get some labs, and make sure that it’s safe to go on to the ketogenic diet. And they’ll often be supplements that we’ll recommend to help get on diet.

Supplements

There are several supplements that can be beneficial for individuals with Angelman Syndrome. Some of these include:

• MCT oil: This can help with transitioning to ketosis and has shown benefits in cognitive performance and increasing the expression of UBE3A.
• Levocarnitine: This can help with dyslipidemia and liver toxicity.
• Coenzyme Q10: This can improve motor coordination and anxiety.
• Probiotics and prebiotics: These can help with gut health and constipation.
• Trumacro: This supplement has shown benefits in changing EEG patterns, improving constipation, and reducing food seeking behavior.
• Taurine: This supplement may improve motor capacity and learning and memory skills.
• L-threonine: This supplement may help with stiffness and anxiety.
• Blackcurrant: This supplement has shown improvements in behavior and cognitive processes.
• B vitamins: These are important for neurological development and can help with irritability and other symptoms.
• Melatonin: This hormone can help with sleep initiation.
• DHA: This omega-3 fatty acid is important for brain development.
• Iron: This can help with restless leg syndrome and restless sleep.

Conclusion

In conclusion, diet therapy, including low glycemic index therapy and ketogenic diet, as well as supplements, can have significant benefits for individuals with Angelman Syndrome. These treatments can help with seizures, cognitive performance, behavior, constipation, and other symptoms. It is important to work with a healthcare professional, such as a dietician or pediatrician, to determine the best approach and monitor for any potential side effects.