Angelman syndrome is a neuro development disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, frequent laughter and usually the symptomatic mania. It is an inherited disorder in which there is deletion or inactivation of genes in maternal chromosome number 15, and the paternal copy may be normal.
The termed angelman is named after British pediatrician; harry Angelman who first described the syndrome in 1965.
Sign and symptoms-
We can arrange the symptoms in three categories according to severity of the disease:-
1. Present consistently-
- Delay in development of mind and functionally the patient is very severe.
- Impairment of speech, very less use of words, loss of communication skills.
- Disorder of balance and movement term called ataxia.
- Behavioral disturbance generally hypermotoric behavior.
- Microcephaly (delayed development of head circumference).
- The onset of seizures generally after the age of 3.
- An abnormal pattern of EEG.
- Feeding difficulty, such as problem associated with swallowing and sucking can occur at an early phase of the disease.
- Hyperactivity decrease as the children gets older.
- Curving of the spine called scoliosis.
- Wide mouth and wide-spaced teeth.
- Sleep disturbance.
- Low pigmentation of skin and eyes.
- Feeding problems during infancy.
- Increased sensitivity to heat.
- Smooth palms and feet.
- The flat back of the head.
The Angelman disease is caused by abnormal inherited chromosome number 15 from the mother by deletion or loss of function of that chromosome, there may be other causes like single gene mutation. In Angelman syndrome, there is severe impairment in hippocampal memory function.
If we look at electroencephalogram (EEG) of the patient it is very abnormal, it helps in differential diagnosis of the disease. In EEG there is very abnormally large amplitude in prefrontal lobe.
- Delay in general development generally delay in speech delivery.
- Unusual jerky movements like tremors, hand flapping, etc.
- Characteristic facial appearance.
- Epilepsy and abnormal EEG.
- A symptom of extreme mania.
Therein currently no cure for this disease, however, we can control some severe symptoms of this disease like epilepsy with the help of some medication like anticonvulsants, we have to be careful while using anticonvulsants medication in Angelman disorder because of the present of many types of Epilepsy as anticonvulsants are for only one type.
- Some Doctors prescribe melatonin to promote sleep.
- Usage of laxatives for normal bowel movements.
- Giving early physiotherapy for the joint mobility and stiffness of joint.
- Improvement of communication skills by giving speech therapy.
The severity of symptoms in Angelman syndrome is different among people. Use of sign language may be beyond the reach for some persons. Participation in physical development, mental development, communication therapy may improve the condition of the disease.