Causes and risk factors
Angelman syndrome is a neurogenetic disorder. It caused due to depletion of UBE3A gene. It is not inherited disease.
Clinical presentation
Angelman syndrome is characterised by developmental delays, speech impairment, intellectual disability, problems in movement and balance. Children get recurrent seizures. The changes are observed between 6 to 12 months of age. The children are happy, laughing, smiling and excitable. They make flapping movements of hand frequently. Children are often hyperactive and are sleepless or require less sleep as compared to other children; however these 2 features improve as the age advances. They show lack of attention. Children have small head size [microcephaly] which is flat from behind. Additional features include sticking out of tongue, strabismus, wide mouth, widely spaced teeth. Children have scoliosis, walk with arms in the air, and have fascination with water. Adults show distinctive facial features, fair skin, and light coloured hair.
Investigation
Medical history by the patient and Clinical examination by the doctor helps in diagnosis. Genetic testing and chromosomal analysis is required for evaluation.
Treatment
Only supportive care with symptomatic treatment is given. Treatment depends upon the underlying symptoms. Medications like anti epileptics are given. Physiotherapy is required to improve posture, walking and balance problems. Orthosis or braces to correct postural deformities are helpful. Adaptive devices such as spectacles, communication aids for speaking are useful. Speech therapy and counselling will help in combating learning disabilities. Cognitive behavioural therapy that teaches different techniques to combat the problem. Individual and family therapy, parent child interaction techniques, parent training, social involvement, spending quality time with children will also help in managing the condition.
Other Modes of treatment
The other modes of treatment can also be effective in treating Angelman syndrome. Homoeopathy is a science which deals with individualization considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly the ayurvedic system of medicine which uses herbal medicines and synthetic derivates are also found to be effective in treating Angelman syndrome.
Facts and figures
Angelman syndrome affects 1 in 12,000 to 20,000 people.
