All that you need to know about the angelman syndrome
Angelman Syndrome is a unique genetic disability that affects the neurological system of the affected individuals. This health condition causes developmental delay in individuals. The individuals suffering from this condition are known to be slow in mental abilities. Read on to know more about it..
1 What causes Angelman Syndrome?
There could be many different causes that lead to Angelman Syndrome. It is a chromosome disorder and it may be the result of any of the following situations:
As is known to most, a child inherits one set of chromosome from each parent. In some cases, chromosome 15 that a child inherits from its mother lacks a section of the genetic material. This genetic material is often lost when the egg is developing in the womb. This is regarded as the most common cause of this syndrome.
In some cases, the chromosome 15 inherited from the mother acts just like the chromosome 15 inherited from the father. This may also be a cause of this syndrome.
In rare cases, the child tends to inherit two copies of chromosome 15 from the father and none from the mother. Even in such cases, the child may suffer from Angelman Syndrome.
Faulty mutation in a gene named UBE3A may also be responsible for Angelman Syndrome.
In 20 to 30% of the cases, no fixed cause has been found.
2 What are the common symptoms of Angelman Syndrome?
You can easily note the common symptoms of Angelman Syndrome. Here we have made a list of some of the prominent symptoms in this health condition:
- Jerky movements are often observed in people with this syndrome.
- Delayed motor development is often observed in children suffering from this condition.
- There is a delay in speech development as well in these children.
- Growing children often show a hyperactive behaviour.
- These children laugh easily and have a happy demeanour.
- They also suffer from stiff legged walking style.
3 How does Angelman Syndrome Affect the Sufferer?
People who are affected by this syndrome undergo physical changes too apart from their mental slowness. Here are some of the notable changes in their physical and behavioural characteristics:
- People with Angelman Syndrome have deep set eyes.
- These individuals also tend to have an ever smiling mouth.
- The back of their head is usually flattened.
- They have widely spaced teeth and a truly prominent jaw.
- Their skin, hair and eyes show signs of slight pigmentation.
- Apart from the physical changes, they also experience certain behavioural changes.
- Children with Angelman Syndrome experience disturbed sleep.
- They also experience feeding difficulties.
- They may also take more time to get trained for the toilet habits.
4 Diagnosis of Angelman Syndrome
You need to first diagnose whether the person is actually suffering from this syndrome on the basis of clinical symptoms. A DNA test may also help equally to indicate whether the syndrome exists. If you suspect that your child maybe suffering from this syndrome, seek professional help. The symptoms alone may lead to wrong diagnosis.
Many of the symptoms for autism and Angelman Syndrome are the same but children with this syndrome are sociable unlike children with autism. There are other medical conditions that share similar symptoms. These include non-specific celebral palsy and Rett Syndrome.
5 Treatment for Angelman Syndrome
There is no known cure for Angelman Syndrome. There are however a range of treatment methods and therapies that may help the child to lead a much better life. Here we have listed a few of these:
- Occupational Therapy may help these people.
- As they have difficulty communicating, a therapy for communication may help.
- Special education and social skills training help them develop as individuals.
- As many suffering from this condition also get seizures, antiepileptic drugs may prove useful.
- Physical therapy and behavioural modification may also be required.