Angelman syndrome is characterized by developmental disability and neurological disorders. It is a familial disorder and cause difficulty in speaking, walking and balancing. People with this syndrome will be seen with smiles and laughter often and will have excited personality. However as they grow older, they will lose their excitement. Seizures are the first indication for detecting Angelman syndrome and there will be delay in normal development. The first symptom appears as early as 2-3 years of the child.
Symptoms :
There will be delay in developmental stage of the child like crawling, toddling and walking. His intellectual ability will be lower than that of normal children. He will not start talking or he will talk only few words. He may not be able to walk properly due to imbalance or ataxia. He will appear excited and smiling all the time. In future also, people with Angelman syndrome will have happy personality.
Some of the physical features of the person affected with this disorder are stiff movements, smaller head size, crossing of eyes, thrusting of tongue, walking very differently or imbalanced and seizures or epilepsy along with neurological problems will start between 2-3 years.
Causes Of Angelman Syndrome :
Angelman syndrome is caused by hereditary and it is believed to be caused by the chromosome 15 or ubiquitin protein ligase gene. These are defective genes causing physically abnormal features to the child. Since genes determine the character of the child, it will be reflected in the form of happy personality. The genes are of autosomal recessive nature. One pair of genes is obtained from the mother and the other pair is from the father. The genes should be active in the pair but in these defective genes only one gene will stay active and the other is inactive. Here the copy of the gene is defective or missing causing the abnormal behavior and physical abnormalities in the child.
Complications :