Harry Angelman and the History of Angelman syndrome
- Sam Shepherd
- Jun 17, 2024
- 4 min read
By Nelson Tang
What is Angelman syndrome? Who was Harry Angelman and his contributions or relation to this? In this article, several questions will be answered regarding this subject matter. It will explain what Angelman syndrome is and what the signs and symptoms of it are. How does it impact the lives of individuals afflicted with it? It will provide a historical overview and timeline of the disease from its discovery until the modern day. Furthermore, it will discuss what has changed about what we know and the advancements made over the years as well as the different kinds of treatments for it. Lastly, it will talk about Harry Angelman and his importance to the field.
Angelman syndrome is something that is quite rare as its occurrence in individuals is low. It is estimated that somewhere between 1 in 12,000 and 1 in 24,000 people in the world have this condition.[3]. It is a rare genetic and neurological disorder that is caused by the absence or abnormal expression of the UBE3A gene. The rate of abnormality or mutation in this gene is about 10 to 20 percent with 3 to 5 percent resulting from a defect in the genetic imprinting where deletion occurred. The remaining percentage is caused by unknown factors and defects in the genetic imprinting. There are some cases where there are no identifiable abnormalities of chromosome 15.[1.] This gene is responsible for the protein known as ubiquitin protein ligase E3A, which has a crucial role in the development and function of one’s nervous system.[2]. Thus, it is something that primarily affects the nervous system. Angelman syndrome causes severe developmental delays and learning disabilities affecting those afflicted with it in different ways as it is not the same for all individuals. Moreover, it is not something that usually appears at birth as it takes time to develop. Typically, the disorder emerges between the ages of 1 to 4 years old, which is when the diagnosis is made.[1].
What are the signs and symptoms of Angelman syndrome and how does it affect those who have it? Some of the traits and characteristics of this disorder include the absence or near absence of speech, the inability to coordinate voluntary movements (ataxia), tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling.[1]. Other effects include microcephaly, which causes a smaller sized head and recurrent seizures or epilepsy.[2]. In terms of other physical characteristics besides a smaller head, there can also be a pointed chin, wide jaw, widely spaced teeth, protruding tongue and deep set eyes, which become more pronounced with age. Furthermore, an individual with Angelman syndrome may have a lack of coloration in their skin or have blonde hair and blue eyes when no one else in their family has. In terms of intellectual and cognitive functions, those with this disorder have a shorter attention span and difficulties with memory and learning.[3].
There are a number of health conditions and issues that are associated with Angelman syndrome. Most tend to suffer from feeding problems during their infancies. It is estimated that 8 out of 10 individuals with Angelman syndrome experience seizures. The type and severity of the seizure differs from person to person and depends on the chromosome or abnormality. Those who have chromosome 15q11-13 deletion genetic cause will have more intense seizures. Other ailments include a curved spine or scoliosis, which occurs in 1 out of 10 children with the disorder with it being more common during adulthood. Mobility decreases with age caused by hypertonicity, which increases tension in the muscles causing rigid movement. Lastly, there are sleep issues and the possibility of reflux and other gastrointestinal issues, but it seems that further research is required regarding this.[3].
When it comes to treatment, there are several options depending on the symptoms that an individual with Angelman syndrome has. Seizures are typically treated with medication and sometimes dietary therapy. Sleep issues can be treated with medication or sleep training. Most importantly, an individual should start certain therapies as early as possible for as long as it is needed for them. These therapies include physical, occupational, and speech therapy, which all help in cognitive function. Applied behavioral analysis and behavior therapy are also beneficial as well. Lastly, there are clinical trials, which involve all kinds of volunteers from different backgrounds and walks of life. The purpose is to better understand the disorder in safely detecting and treating it or potentially prevent occurrences [2].
Angelman syndrome is named after Harry Angelman who discovered the disorder in 1965 when he wrote about three children. Angelman would write a paper titled Puppet Children, where the inspiration came from a painting he saw in a museum called “A Boy with Puppet.” He took note of the stiff and jerky movements and happy demeanor of the children leading the disorder to be called “Happy Puppet Children” for a time until it was changed in 1982 by two researchers due to the offensiveness of the term.[3]. Harry Angelman was an English physician at the Warrington General Hospital and was the first to make these observations. These observations were later confirmed in 1982 by Dr. Charles Williams and Dr. Jaime Frias who believed their patients had the disorder and renamed the condition to Angelman syndrome.
In 1987, the genetic maker and cause was discovered by Ellen Magenis who was a physician at the Oregon Health Science Center. Magenis discovered this by looking at the chromosome where she saw that a tiny portion of chromosome 15 was missing. The Angelman Syndrome Foundation (ASF) was founded in 1992 to continue further research towards it as well as treatments and the hope to one day cure.[4]. Since its discovery in 1965, many breakthroughs have been made where researchers and doctors alike have built upon each other's works over the years. The work and research continues as more funding will be required if the goal to one day cure it is to be actualized. There must be greater advocacy and support for all kinds of intellectual disabilities and break the stigma showing that individuals with these afflictions are capable of functioning and partaking in society.
References:
[1]. “Angelman Syndrome - Symptoms, Causes, Treatment: Nord.” National Organization for Rare Disorders, 20 Mar. 2024, rarediseases.org/rare-diseases/angelman-syndrome/#disease-overview-main.
[2.] “Angelman Syndrome.” National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services,
[3]. History and Prevalence of Angelman Syndrome, https://findresources.co.uk/the-syndromes/angelman/history-prevalence..
[4]. “History.” Angelman Syndrome Foundation, www.angelman.org/about/history/.
