EPILEPSY

More than 80% of children with Angelman syndrome have epilepsy with onset typically in the first three years of life.

They frequently have mixed seizure disorders ranging from as mild as occasional absence seizures to hundreds of drop attacks per day. Seizures can be life threatening and correct medication is vital in order to control them.

Seizures can also interfere with learning & development and can be linked to certain unusual behaviours. For more support and in-depth information on Epilepsy, see Epilepsy New Zealand

Angelman syndrome & seizures

Seizures are frequently seen in childhood. They may continue, or stop and reappear later in adulthood. Seizures usually begin between 1 and 3 years of age. A child may have many different types of seizures, for example:

Atonic, generalized tonic-clonic, absence, complex partial, myoclonic, tonic, secondarily generalized and partial motor seizures are commonly seen.
Atypical absence and myoclonic seizures are very common.
Status epilepticus, a seizure emergency, may be seen. Nonconvulsive status epilepticus (which consists of repeated or prolonged periods of absence, atypical absence or partial seizures) happens more often than status epilepticus with tonic-clonic seizures.
Frequent or prolonged episodes of nonconvulsive status epilepticus can contribute to a poor cognitive outcome for children with AS.
Seizures are usually difficult to control with seizure medications for many children with AS.
There is also the risk of SUDEP. Article and video here: Sudden Unexpected Death in Epilepsy (SUDEP) – empowering patients (Dec 2024)

What are Tremors?

Myoclonus describes a symptom and not a diagnosis of a disease. It refers to sudden, involuntary jerking of a muscle or group of muscles. Epileptic myoclonus occurs as part of an underlying epileptic disorder. Subtypes of epilepsy-induced myoclonus include cortical reflex myoclonus, progressive myoclonus epilepsy, and reticular reflex myoclonus. Each subtype refers to a form of epilepsy that affects different brain regions. These tremors are not the same as seizures and can be extremely difficult to treat. Dysautonomia can also present as tremors. It is an umbrella medical term utilized for a group of complex conditions that are caused by a dysfunction of the autonomic nervous.

EEG patterns

Most (not all) children with Angelman Syndrome have abnormal EEGs (electroencephalograms) and many are prone to significant seizure activity that is often tricky to control in childhood. They usually demonstrate an abnormal EEG with a characteristic pattern of large amplitude slow-spike waves. These EEGs reflects activity that may contribute to the frequent seizures and also to other developmental or neurologic problems. Image here shows Characteristic Angelman EEG, with Triphasic delta wave activity arrowed.

Seizure Management Plan (SMP)

If your child has seizures, it is helpful for the child and everyone else involved, to have a consistent plan of action. An SMP is a written document that provides general medical information about the person with epilepsy (including personal identifying information), emergency contacts, details about his or her specific seizures, medicines, and information on what to do if a seizure happens. Your child's GP or neurologist can help you fill this out.

There are several samples of these plans on the internet.

If your child has epilepsy, this SMP should be on file with teachers and the school nurse’s office (or wherever your child spends time, such as an aftercare program, camp, or with a babysitter). Having a plan readily available will help minimize the impact of seizures for the person with epilepsy, and help others to manage seizures appropriately.

The family plays a central role in your child's seizure management.
Your success in managing your child's seizures will depend on being well prepared – from understanding epilepsy and maintaining seizure control, to responding to seizures and managing safety.
An SMP can help you organize your child's seizure information and have it available when and where you need it. It can help you know what to do to prevent an emergency, or tell others what to do in emergency situations.
By being prepared, seizures (or the fear of seizures) won’t prevent you from letting your child participate and enjoy their life to the fullest.

Seizure Diary

Keep a detailed log or a seizure dairy to record unusual behaviors or possible seizure activity. This can be a helpful tool to identify triggers and seizure types, should further investigations be needed.

Video Clips

Video clips of your child that record unusual behaviors or possible seizure activity is useful information for a specialist when trying to identify what type of seizures your child is having.

Seizure Types

Different seizure types require different treatments and medication. See below for more info. You can also share questions and concerns with other parents on FB here:

Angelman Syndrome Seizure Information

Poster

Have this poster on display and/or on file for your Seizure Response Plan for carers, support workers, teachers, aides, etc

FB Support Groups for Seizures

Angelman Syndrome Seizure Information group – Private group for sharing information on seizures, AEDs, CBD oil, diet management, etc.
NZ Seizure Group - General NZ group (private) for all seizure types
Shaking Angels - Private group for dealing with tremors in Angelman syndrome

Informative Articles

Dr. Ron Thibert on the LGIT diet (2018): 'Dietary Treatment Proven Successful in Reducing Seizures in Angelman Syndrome by up to 90 Percent '
Seizure treatment in Angelman syndrome (Full PDF here ) - This study aimed to assess the use of newer antiepileptic drug therapies in individuals with Angelman syndrome followed at the Angelman Syndrome Clinic at the Massachusetts General Hospital. Elias A. Shaaya, Olivia R. Grocott, Olivia Laing, Ronald L. Thibert
Epilepsy Foundation notes on Angelman syndrome - read here
Dystonia in Angelman syndrome: a common, unrecognized clinical finding (2021); Edoardo Ferlazzo 1 2 3, Michele Ascoli 1 2, Francesca Abate 1, Sara Gasparini 1 2, Giovanni Mastroianni 2, Vittoria Cianci 2, Giulia Ferrigno 1, Chiara Sueri 2, Tiziana D'Agostino 2, Umberto Aguglia 4 5 6

YouTube

treatment for people with epilepsy.

Vitamin Supplements

Vitamin D: Some anti-epileptic drugs (AEDs) can reduce bone density, making bones weaker and more likely to break. To help prevent this, doctors may suggest a bone density scan, and prescribe a vitamin D supplement. Vitamin D helps the body to absorb calcium and build healthy bones. Sunlight is the main source of vitamin D, and most people can store enough to last through the days when there is little sunlight. Vitamin D is also in eggs, oily fish, fish liver oils and foods with added vitamin D, such as some cereals, fat spreads and dairy products.

Vitamin B6 : Side effects of taking Keppra include changes in mood or behavior, clumsiness or unsteadiness, or unusual tiredness or weakness. More serious symptoms can include depression and hallucinations. A study reported in "Clinical Epilepsy" in October 2005 found that the addition of vitamin B6 may prevent or reduce some of the psychiatric symptoms associated with Keppra.

Learn More

CBD oil - cannabidiol

Evidence from laboratory studies, anecdotal reports, and small clinical studies from a number of years ago suggest that cannabidiol, a non-psychoactive compound of cannabis, could potentially be helpful in controlling seizures. More testing needs to be done to ascertain safety levels. CBD does interact with some other seizure medicines, so this must also be taken into consideration. CBD should not be taken casually as an extra supplement.

YouTube video:

Should we use Cannabis to treat Epilepsy? - AngelmanUK

Medical marijuana and epilepsy (Epilepsy Foundation).

Understanding CBD

Epilepsy Research in AS

Due to the high rate of seizures among people who have AS, there is ongoing research on Epilepsy and Angelman Syndrome. Key research articles are listed here: