Angelman Syndrome

Angelman Syndrome – Genetic Disorder

Angelman syndrome is a genetic disorder which causes developmental as well as neurological problems like severe speech impairment with trouble in walking and balancing. It could affect about one in 10,000 people and those with this disorder seem to be usually happy and affectionate and may laugh often and at any inappropriate time.

Those who are affected with Angelman syndrome may also have epilepsy and are also associated with low levels of pigment in hair, skin and eyes. People with this disorder could be treated based on the behaviours associated with the disorder.

In several cases, it is not an inherited issue and the genetic anomaly which is responsible for the syndrome could occur by chance at the time of conception. Usually the typical characteristics of Angelman syndrome is not obvious at birth and a child with the syndrome tends to show signs of delayed development around six to twelve months like being unable to sit without support or make babbling sound. At a later stage, they may also not speak at all or may be able to say just a few words.

Characteristics of Angelman Syndrome

Besides this, their movement also gets affected where the person affected with Angelman syndrome may also find it difficult to walk due to problems in balance and co-ordination, their arms may tend to tremble or move jerkily while their legs may be stiffer than normal. Other distinctive behaviours could also be associated with Angelman syndrome which may include frequent smiling and laughter with little stimulus, getting excited easily, often flapping the hands, feeling of restlessness, short attention span, accompanied with problems with sleep or needing less sleep than other children.

As they reach the age of around two years, an abnormally small head which tends to be flat at the back develops and they may begin to have seizures or fits during this age period. Besides this, other possible features could also include: crossed eyes – strabismus, sticking out of the tongue, a wide mouth with widely placed teeth, pale skin and light coloured hair and eyes, a side to side curvature of the spine, a fascination for water and walking with arms in the air.

Treatments & Aids 

Due to the problem in co-ordination, some infants may face problems in feeding and may have difficulty in sucking and swallowing. In such a situation, a high calorie formula is recommended in order to help the infant to be nourished or they may need to be treated for reflux.

Treatment and aids could be beneficial for Angelman syndrome such as anti-epileptic medicine to control the seizures, physiotherapy which could help to improve balance, posture and the ability to walk, which is also important to prevent permanent stiffness of the joints as one tends to grow older, a back brace or a spinal surgery could be recommended in order to prevent the spine getting curved further, communication therapy could also be recommended to help them to develop non-verbal language skills like sign language and use of visual aids such as iPad applications and other familiar devices, an ankle or foot orthosis which could help them to walk independently, activities like swimming, horse riding and music therapy are also known to be of great advantage to the person with Angelman syndrome.