Ever heard of Angelman syndrome? What about Harry Angelman? The most probable answer to these questions is no. However, in as much as this is a rare neuro-genetic disorder, one might have come across it. Hence, we cannot discredit that.
Nonetheless, the Angelman Syndrome is not known to many because it has a really low prevalence compared to other disorders. As of May 17, 2022, it was recorded that this disorder happens in 1 in 15,000 live births or in 500,000 people in the world.
The Angelman Syndrome is an eponym of the physician Harry Angelman, the physician who unearthed the disorder in 1965. It was originally called “The Happy Puppet Syndrome” because of the jerky movements of a child. Quite compelling right?
The Angelman Syndrome (AS) is a genetic disorder caused by disfunction in a gene located on chromosome 15.
One of the most important signs to note is developmental delays. This is very familiar in children with Angel Syndrome. It results in a lack of crawling and babbling. It is usually detectable during the first 6 to 12 months.
Minimal speech is also recorded as well as frequent smiling and or laughing.
The inability to walk or move freely is also a sign.
Most children with Angelman Syndrome experience difficulty in feeding.
These are the striking features that a child or person with Angelman Syndrome has.
- In the first 2-3 years, a child may experience seizures.
- Stiff or jerky movements are also part and parcel of this disorder.
- Others may have lighter hair, skin and eyes colour.
- Microcephaly- A small head size or flatness on the back of the head.
The complications that arise with the Angelman Syndrome are as listed:
- Scoliosis- this is a curved spine.
- Obesity- Older children with this disorder tend to have an increased appetite leading to excess body fat.
- Sleep disorders- About 20-80% have an abnormal sleep-wake cycle.
- Hyperactivity – characterized by rapid movements from one point to another and a short attention span.
Unfortunately, there is still no cure for the Angelman Syndrome. However, research is ongoing to discover specific genes for its treatment. Currently, this condition can be managed and allow for a child to lead a near-normal or a normal life.
BY CHRISTINE OMONDI