Growing Up with Epilepsy: Henry's Story

Angelman Syndrome and Severe Epilepsy: Treating the Whole Child

When Henry was four and a half years old, he was seen by a different neurologist, who suggested that his condition might be genetic, possibly a neurobehavioral disorder called Angelman syndrome (AS). She ordered a genetic test that showed a major deletion in chromosome 15, allowing her to diagnose Henry with AS.

Like most Angelman children, Henry has very recognizable behavioral features. He has severe developmental impairment and is, for the most part, nonverbal. He has difficult-to-regulate sleep/wake patterns, often sleeping for only short periods of time. He walks with an ataxic, or unsteady gait, often with his arms uplifted. And like most children with AS, Henry has a happy demeanor. He smiles and laughs a lot and loves to give hugs. Because of the way Angelman children walk and their generally joyful disposition, AS is often referred to as the "happy puppet" syndrome.

Angelman and Seizures

About 70 percent of children with Angelman syndrome share Henry's chromosome 15 deletion. Most of these children have very abnormal electroencephalograms (EEGs), and almost all are prone to significant seizure activity that is often difficult to control in childhood. Up to 90 percent of children with Angelman have epilepsy, with onset typically in the first three years of life. The children frequently have mixed seizure disorders, ranging from occasional absence seizures to hundreds of drop attacks per day.

Henry had his first seizure shortly after his diagnosis of AS. His parents feel that this first seizure was triggered by the stress of starting school. Other triggers include fever and fatigue. Henry has been brought to the emergency room three times in status epilepticus, a prolonged seizure lasting more than 15 minutes, so his parents have become vigilant about managing his seizures. Currently his seizures are well controlled using an anticonvulsant medication and a number of family strategies. Naili and Tony have learned to avoid things that may increase Henry's stress level, they try to make sure he gets adequate sleep, and they are very careful to prevent fever. They have also prepared a document they share with Henry's school that outlines his medical needs so that his teachers are aware of his condition and are also able to recognize Henry's triggers and help prevent seizures.

Here is a link to Henry's Seizure Condition and Prevention Strategies (PDF), a printable document containing information that is given to all of Henry's teachers and caregivers.

The Whole Child

Naili and Tony are appreciative of the comprehensive treatment Henry receives as part of the pediatric epilepsy program at Massachusetts General Hospital for Children. This program looks not only at seizure control but also at learning and behavior issues and other developmental markers. They feel this whole-child approach has made a big difference for Henry and for their family.

Tony comments, "The success of the special child very much depends upon the people around him, how we teach him, how we educate him, how we modify his behavior, how we care about him. This makes a dramatic difference. How much we give him, how much love we give him is really important."

Learning Issues

In spite of the severe learning difficulties associated with Angelman syndrome, there are many opportunities for Henry and children like him to progress in a school environment. A neuropsychological evaluation or assessment by an educational professional can help tailor the learning environment to each child's needs. Henry is in a collaborative school for children with special needs. His neuropsychological evaluation helped teachers design his school program, which includes group work with his classmates and one-on-one therapies using Applied Behavioral Analysis, or ABA. ABA is a therapeutic educational intervention that has been used successfully with children on the autism spectrum and with children who have other types of severe learning disorders. The method employs structure and repetition to modify behaviors and introduce new skills.

Henry's main goal in his ABA work is to improve his ability to communicate. His teachers use pictures to help Henry make choices and answer questions. He has also started to acquire some language and now speaks about five words. He has recently learned to say "all done" to signal when he's finished with an activity. His parents are very happy that he has also been able to use this phrase at home to communicate when he's finished eating.

Behavior Problems

Children with Angelman syndrome often have excitable personalities and may seem to be in constant motion. Impulsivity and hyperactivity are very common and can make paying attention difficult. Additionally, it is thought that while most children with AS are nonverbal, they understand a lot of what is said to them. This can make communication frustrating not only for family members but for the child as well. All of these behavioral issues made it difficult for Henry to engage at school and put a strain on his interactions with his parents.

Naili and Tony sought help from a psychiatrist they were referred to by Henry's neurologist. The psychiatrist first examined the home and school environments. Henry's parents were already using a lot of structure and routines at home, and the school was using the ABA technique in Henry's classroom. Because these appropriate interventions were already in place, the psychiatrist decided to place Henry on a small dose of medication to help control his behavior, first checking to ensure there were no known interactions with his anticonvulsant medication.

Henry's parents are pleased with the result. Henry is now able to pay attention at school for longer periods of time, they are better able to go on family outings, and home life is a little less chaotic and more productive. Henry seems more responsive to his parents, even mimicking some actions and expressions, which they feel is important to his future development.

Naili adds, "The wish we have for Henry is we hope he's going to have a quality of life, and has a life as close to a typical person as possible—that's the wish. So to achieve this goal, Henry has to learn a lot of things at this younger age. So we hope, as a parent, that we can just create as many possibilities as possible for Henry and let him go and achieve the best he can be."