Angelman Syndrome

After volunteering at West Berkshire Mencap for some time, I've met a variety of conditions that cause learning disabilities, one of which, is Angelman Syndrome:


There's a boy who regularly attends the After School Club and the Holiday Playschemes, called James, who has Angelman Syndrome, a condition which causes severe learning disabilities. Angelman is most commonly caused by a deletion of Chromosome 15, when the deleted gene comes from the in mother. Angelman Syndrome is paired with Prada-Willi Syndrome, which occurs when this deletion is inherited paternally. The gene defect that causes Angelman Syndrome is on UBE3A and can also cause Angelman Syndrome through translocation, as well as deletion/inactivation of this gene.

Angelman was discovered by Dr Harry Angelman. It was previously called "Puppet Syndrome", which came about after Dr Angelman saw an Italian picture of a smiling boy holding a drawing. He believed this also described the jerky, hand-flapping movements many people with Angleman Syndrome display. People with Angelman Syndrome are sometimes referred to as "angels", partly due to the name of the condition, but also partly to do with how they appear much younger than "mainstream" students or adults without Angelman Syndrome.


There are many symptoms of Angelman Syndrome, many of which I have noticed in James. He has severe learning difficulties and has no speech, other than stringing together the 3 noises of "ba", "ga" and "ma". Mental retardation common in Angelman Syndrome, with many people with this condition being able to learn only a few words at best. However, many find other ways of non-verbal communication, such as Makaton an/or PECs. James only communicates by pointing to things, such as at snack time, where he will point to what he wants (often choosing Skips!). James also has an unsteady gait, another common symptom of Angelman Syndrome. James was very late learning to walk and due to this and his lack of balance, he has a buggy which he is often strapped into to go long distances, such as when we went to Thorpe Park. James also appears to be in a very good mood most of the time, which is another common occurence in people with Angelman Syndrome. James' apparent happy demeanour means that he laughs and smiles a lot and also gives lots of people hugs. James also has an obsession with water. This occured to me when we had a day trip out of TVAP, an adventure playground specifically designed for children and adults with learning disabilities. We spent the whole day (5 hours) playing with the water jets, which he appeared to absolutely love. He was giggling and laughing the whole time! this fascination with water is also common in people with Angelman Syndrome, although there is no obvious cause of this.


James also has epilepsy. He takes regular medication for this. He has absences multiple times everyday and these occur more frequently when under certain conditions, such as if he's too hot or cold or hasn't had enough food or drink. An absence is where the person temporarily loses consciousness. They are unaware of this and these types of seizures only last a few seconds normally. Many absences are mistaken for daydreaming, as they have no response while in this seizure. For James, absences are common and result in his head dropping suddenly and his eyelids fluttering. When these seizures happen, we gently stroke James' arm and quietly call his name until we have a response, such as a smile or when he lifts his head. We do things gently to minimise confusion for him when he comes out of the absence. James also suffers rare tonic clonic seizures, and due mainly to this he wears a padded helmet (other than in bed and when in a padded play area) to protect his head in case he has a tonic clonic seizure and falls. Tonic clonic seizures are the ones most commonly associated with epilepsy, and are also called "drop fits" as the person loses control and has full body convulsions. This can often result in injury from falling, or from the convulsions, such as biting their tongue, and sometimes incontinence. Although I have never witnessed James have a tonic clonic seizure, I have witnessed many of his absences.

Working with James has been something that I have immensely enjoyed! It's been extremely rewarding and due to his generally happy demeanour, James is lots of fun to work with! After working with him many times, he's started giving me hugs when he sees me, whether I'm working with him that session or not! It's made me see how rewarding helping people is - something which I wish to continue by studying Medicine.