Angelman Syndrome

Angelman syndrome is a condition that causes neurological and developmental disabilities such as problems in speech, walking, balancing, and at times seizures. It is a rare genetic disorder, which affects the nervous system and causes physical disabilities and intellectual incapacity. The genetic abnormality many not be passed on from parent to offspring but it occurs by chance at times of conception. Therefore the condition is not by and large inherited nonetheless, there are a few cases where families in which the condition may be inherited.

Symptoms of Angelman syndrome

Angelman syndrome is diagnosed in many children at the age of around 18 months to 6 years and this is because, it is within this period when the behavioural and physical symptoms of the conditions are noticed. A blood test may be performed to find out the abnormality in genes that could have caused the problem. There are many symptoms associated with this condition. A child with Angelman syndrome experiences delay in development within the first 6 to 12 months.

Sponsored link

Most of the children with this condition have an abnormal head, which is smaller than that of a normal child and the head size differences are noticed by the age of 2 years. The children with Angelman syndrome also suffer from seizures at the same age of around 2 years. Speech problem is a common symptom where most children with the condition do not speak. Others say only a few words. There is a tendency of children suffering from the condition to have frequent laughing and smiling even in incidents where there is little stimulus to laugh or smile.

The children are also easily excitable and may flap their hands. Restless and short attention spans are other signs of the condition. Besides these symptoms, a child may also have a flat skull at the back of the head, sticking out the tongue, wide spaced teeth and mouth, problem in feeding at infancy as well as frequent drooping. Moreover, a child may also have excessive chewing, and eyes that look in different directions. Other signs include spine abnormality where it bends on side a condition known as scoliosis. A child also has problems in walking, moving or balancing the body. Most babies with this condition may not show signs at birth and the first signs manifest in form of delayed development in the first 6 to 12 months. A child may have delayed crawling and babbling.

Causes of Angelman syndrome

Angelman syndrome is caused by a missing or defective gene. This genetic disorder occurs when there is problem with ubiquitin-protein ligase E3A gene located in chromosome 15. Genes in a person occur in pairs, where one copy is from the parent and the other copy from the father.  Both of these genes are active but at times, only one copy may be active. When the copy that is mainly active becomes missing or defective, this causes problems in the characteristics and functions that are performed by the gene. In Angelman syndrome, part of the mother copy or pertanal copy chromosome 15 is damaged or not present.  In rare cases, Angelman syndrome may occur when two paternal copies of ubiquitin-protein ligase E3A gene are inherited instead of one gene from father and another from mother (paternal and maternal copy).  The ubiquitin-protein ligase E3A gene is abbreviated as UBE3A gene and is found in chromosome number 15. A person inherited two copies of the UBE3A gene from parents. The expression of UBE3A gene can be affected during conception leading to the condition.

Treatment of Angelman syndrome

Chromosome defects cannot be repairs meaning that there is no cure for this condition. Much of the treatment is aimed at managing the developmental problems and medical issues which arise due to the defective chromosomes. The treatment for Angelman syndrome may entail physical therapy to help a child walk better and also cope with any other movement complications. Seizures caused by this condition may be treated with use of anti-seizure medications. Because children with the condition have difficulties with their speech, communication therapy may be applied to help the child help in speech. If a child cannot speak completely, nonverbal language skills may be required such as use of sign language as well as picture communication. Children with the condition also have behavioural problems. Behaviour therapy can be applied to help the child deal with short attention span, hyperactivity, and building social relationship with others. In essence, a child with Angelman syndrome may have changes in the symptoms with time. The sleeping problems may improve. Hyperactivity may also improve with time. However, the smiling may persist for long. Usually people with this condition can experience near-normal life expectancy but they need proper care and close examination of their symptoms. If you are from a family that has history of suffering from Angelman syndrome, you may need to talk to your doctor to help you in planning for your pregnancies to prevent the condition from occurring.

Angelman Syndrome Pictures

Sponsored link
Filed in: Diseases and Conditions Tags: , , , ,

Get Updates

Share This Post

Related Posts

Leave a Reply

Submit Comment

© 2017 See Ya Doctor. All rights reserved.