Angelman syndrome refers to a disorder of the genes in which the nervous system gets affected, causing severe physical as well as intellectual disability. Angelman syndrome is relatively rare and occurs in at least 1 in 25, 000 cases. Some of the typical characteristics of Angelman syndrome include:
• Severe impairment in language with little to no speech
• Delay in development that usually gets noticed from 6-12 months of age
• Problems in movement as well as balance
• Microcephaly or small size of the head
• A sociable behaviour with frequent smiling
In most cases of Angelman syndrome, it is not inherited from the parents. The genetic anomaly that is responsible for the development of the syndrome develops by chance just around the time of conception. In some families, however, more than one child can be affected.
The typical characteristics of Angelman Syndrome do not show up at birth. A child with the syndrome tends to show signs of delayed developed around 6-12 months. These delays may manifest in the form of difficulty to sit without support or making babbling noises. After some time, the child may not be able to speak at all or seldom say a few words.
A child suffering from Angelman’s syndrome may also experience problems with movement such as difficulty in walking due to difficulty in balance as well as co-ordination. The child’s arms may move jerkily or tremble and his/her legs may stiffer.
Some distinctive behaviours that are associated with Angelman syndrome include:
• Frequent laughter as well as smiling with little to no stimulus
• Being hyperactive or restless
• Having a short attention span
• Having problems with sleeping such as needing less sleep compared with other children
• Being easily excitable
By the time the child grow up and reaches the second year of life, he/she will have a small head that is flat at the back. This will be easily noticeable. The child may also begin to have seizures around this time.
Some other possible characteristics of this syndrome include:
• Crossed eyes
• Sticking tongue out
• Wide mouth with widely spaced teeth
• Pale skin, light-coloured eyes and hair
• Walking with arms spread out in the air
• Side-to-side curvature of the spine
• Fascination with water.
Read more articles on Angelman Syndrome.
There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary.read more
Individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age.read more