LGIT & GI Issues in Angelman Syndrome
- Dietary therapies like the ketogenic diet and low glycemic index treatment have been effective in reducing seizures in epilepsy patients.
- These diets are formulated based on individual’s calorie needs, age, and current intake. Side effects include constipation, elevated lipid levels, and growth inhibition, but they can also improve cognitive and social functioning, sleep, and physical mobility.
- Gastrointestinal (GI) dysfunction is common in Angelman syndrome, often worsening seizures, sleep problems, behaviour, and overall health. Treatment is usually symptomatic, including diet changes, medication, and addressing underlying causes.
- GI dysfunction can lead to complications like aspiration pneumonia. Eosinophilic esophagitis, a food sensitivity condition, can be managed by removing certain foods from the diet.
- Medications for constipation and reflux are usually over-the-counter, but severe cases may require prescription medication. Long-term use of proton pump inhibitors for reflux can negatively affect bone health.
- GI symptoms are common in Angelman syndrome, with constipation being the most prevalent. Treatment is usually symptomatic, involving fluids, diet changes, and medication if needed.
- Pica, the eating of non-food items, is a challenging GI issue that often requires both GI and psychiatric consultation. The ketogenic diet may not be effective for all individuals with Angelman syndrome.
- The impact of diet on seizures can vary from immediate to delayed, depending on the individual and the specific foods consumed. Non-epileptic myoclonus, a movement disorder often seen in Angelman syndrome, may not respond to dietary interventions.
- Individuals with Angelman syndrome due to uniparental disomy (UPD) may have a higher appetite and may require careful diet management. The use of essential oils should be approached with caution, as some can lower the seizure threshold and increase seizure activity.
In this talk, we will discuss the use of dietary therapies for the treatment of epilepsy, specifically focusing on the ketogenic diet and the low glycemic index treatment. We will also explore the common gastrointestinal (GI) issues seen in individuals with Angelman syndrome and discuss potential treatment options.
Dietary Therapies for Epilepsy
Throughout history, dietary therapies have been used for the purification of the body and the treatment of epilepsy. Fasting was the first dietary therapy used, based on the belief that the body needed to be purified. In the 1920s, the classic ketogenic diet was developed to mimic the effects of fasting and has been shown to be effective in reducing seizures. The low glycemic index treatment is a modified version of the ketogenic diet that focuses on limiting foods that raise blood glucose levels. Both diets have been proven to be effective in reducing seizures in patients with epilepsy.
Formulation of the Diets
The ketogenic diet and the low glycemic index treatment are formulated based on the individual’s calorie needs, age, and current intake. The ketogenic diet requires weighing and measuring all foods, while the low glycemic index treatment does not.
Side Effects and Benefits of the Diets
Side effects of the diets include constipation, elevated lipid levels, and growth inhibition. However, the diets can also lead to improvements in cognitive and social functioning, sleep, and physical mobility.
GI Dysfunction in Angelman Syndrome
GI dysfunction is common in individuals with Angelman syndrome and can be caused by neurological factors, low muscle tone, sensory issues, and medication side effects. GI issues can worsen seizures, sleep problems, behavior, and overall health.
Treatment for GI Dysfunction
Treatment for GI dysfunction in Angelman syndrome is often symptomatic and includes diet changes, medication, and addressing underlying causes such as low muscle tone. Diet changes can include increasing fluid intake, adding high fiber foods, and avoiding allergens or sensitivities. Medications such as laxatives or acid reducers may be used to manage symptoms.
Complications of GI Dysfunction
GI dysfunction in Angelman syndrome can lead to aspiration pneumonia and worsen seizures. Therefore, addressing GI dysfunction is crucial for improving overall health and well-being in individuals with Angelman syndrome.
Eosinophilic esophagitis is a condition where there is a sensitivity to certain foods, causing allergy cells in the esophagus and various problems. Certain kids with sensitivities to certain foods can benefit from removing those foods from their diet, with the help of a GI specialist.
Medications for Constipation and Reflux
Medications for constipation are usually over-the-counter, such as polyethylene glycol (MiraLAX), magnesium supplements, and Senna. Severe cases of constipation may require the help of a GI doctor, who can prescribe a combination of medications. Proton pump inhibitors (PPIs) like Prilosec, Prevacid, and Nexium are commonly used to treat reflux, but long-term use may have negative effects on bone health. H2 blockers like Zantac and Pepcid are considered safer alternatives to PPIs and are available over-the-counter. Treating reflux can often improve constipation symptoms.
Prevalence of GI Symptoms in Angelman Syndrome
GI symptoms are common in Angelman syndrome, with constipation being the most common (72%) and reflux being the second most common (44%). Lower GI symptoms (colon) are usually functional, while upper GI symptoms (stomach, esophagus) are more common in kids with deletions and UPD compared to those with mutations and imprinting center defects.
Treatment for GI Symptoms
Treatment for GI symptoms is usually symptomatic, with fluids, diet changes, and medications if needed. The Angelman Syndrome Foundation (ASF) has provided funds for research on Angelman syndrome, and the presenters are running on the ASF team.
Pica and Other GI Issues
Pica, the eating of non-food items, is a challenging GI issue that often requires both GI and psychiatric consultation. The ketogenic diet may not be effective for all individuals with Angelman syndrome, and other treatment options should be explored. The use of essential oils should be approached with caution, as some oils can lower the seizure threshold and increase seizure activity.
Impact of Diet on Seizures and Development
The improvement of seizures can lead to improvements in EEG patterns and overall development. The impact of diet on seizures can vary from immediate to delayed, depending on the individual and the specific foods consumed. Pica can be influenced by anxiety and other factors, and treating the underlying causes can help manage the condition. Non-epileptic myoclonus, a movement disorder often seen in Angelman syndrome, may not respond to dietary interventions and may require specific medications.
Management of Diet in UPD Individuals
UPD individuals with Angelman syndrome may have a higher appetite and may require careful management of their diet to maintain a healthy weight.
Caution with Essential Oils
The use of essential oils, such as lavender, may need to be reevaluated if seizures worsen after starting their use.
Improvements in Mobility and Stamina
The improvement of seizures can lead to improvements in mobility and stamina in some individuals with Angelman syndrome.
- Title: LGIT & GI Issues in Angelman Syndrome
- Author(s): Heidi Pfeifer, Ron Thibert
- Author(s)’ affiliation: Massachusetts General Hospital
- Publication date: 2017-08-07
- Collection: 2017 ASF Family Conference