What is Angelman Syndrome ?
Angelman Syndrome is a genetic disorder which affects the nervous system from a very young age. Most instances of Angelman Syndrome are discovered in children between the ages of 6 months to 12 months. The syndrome is named after the man who first discovered it in 1965, a British paediatrician by the name of Harry Angleman. Since it is a genetic disorder, it is impossible to cure it completely. Fortunately, people diagnosed with Angelman Syndrome live a normal life span and do not have uncommon health issues. They do however face some difficulty in speaking, balancing their movements while walking and may also suffer from epileptic seizures.
Causes of Angelman Syndrome :
The cause of Angelman Syndrome is purely coincidental since it involves activity in the DNA of a child while it is still in the womb. When a child is conceived, he receives DNA or genes from both the mother and father. In maximum cases, the genes inherited from both his parents get activated in the baby and he is born normal. But Angelman Syndrome occurs when some of the genes from the father do not get active and the same are also not provided from the mother’s side. This leads to an absence of some specific genes in a baby diagnosed with Angelman Syndrome. Researchers have till now been unable to determine why these genes do not get active in some babies.
Symptoms of Angelman Syndrome :
Symptoms of Angelman Syndrome become noticeable in a child soon after he turns 6 months old. Some of the symptoms are:
- Delay in development of the baby. For example, some babies with Angelman Syndrome do not start crawling even till they are one year old.
- Unnaturally frequent outbursts of laughter and continuous smiling.
- Arms and legs of the baby tend to tremble a lot.
- Babies with Angelman Syndrome usually have extremely light coloured hair and pale skin.
- Children between 2 to 3 years of age may also experience epileptic seizures.
The most common signs that young children with Angelman Syndrome will display are unusually excited demeanour and hyperactivity. While normal children may have phases of happiness and sadness both, a baby with Angelman Syndrome would in all probability remain happy and smiling in nine situations out of ten. These babies also do not need as much sleep as a normal baby does and have trouble in sleeping. Babies with Angelman Syndrome also share a common fascination with water. Parents must look out for these signs in young children.
Usually, a test for Angelman Syndrome only requires some blood from the child which can then be analysed through the following tests:
- DNA Methylation Test – This test studies the chromosomes in the DNA of the child to see whether all the genes contributed by the mother and father are active or not. In case of a positive result, it is usually found that some of the mother’s genes are missing while the father’s genes are not active which results in total absence of some genes, leading to this genetic disorder.
- FISH Test – This is another DNA test which simply tells us whether ‘Chromosome 15’is missing in the child’s genes. If it is missing altogether, 100% chances are that the child will be diagnosed with Angelman Syndrome.
- UBE3A Sequencing – This test is similar to DNA Methylation Test. The only difference is that while DNA Methylation is used to find if mother’s genes are missing, this one is used to find if the father’s genes are missing while the ones given by the mother are inactive. This is a very rare occurrence and so, this test is generally the last one to be performed if all other tests show negative.
When you take your child to a paediatrician for a general check-up, if he notices signs of Angelman Syndrome in your child, he may refer you to go to a specialist. The only test that is required to actually confirm Angelman Syndrome is a blood test. Make sure that your child does not get panicked at the sight of needles etc. and think of some ways to soothe him and calm him beforehand. Although the blood test is more than enough for the diagnosis, the doctor may also want to observe the behaviour of the child for some time for which you may have to visit him at regular intervals as instructed by him.
The severity of this syndrome varies from child to child. Children who have chromosome 15 missing altogether in their DNA are more severely affected but others where these particular genes are present but simply inactive can still lead a normal life. Children with Angelman Syndrome face difficulty in speaking and walking. Speech therapies from a young age are an excellent solution for this. Children can also be encouraged to participate in physical activity which will be good for fine-tuning their motor skills, for example, playing the game of catch will improve reflexes. If, however, the child starts having seizures at a young age, medication should be started immediately.
Angelman Syndrome is a rare and rather unfortunate disease which occurs due to missing or inactive genes in the baby even though both parents have perfect genes. Nothing much can be done to actually prevent it since you do not have control over the activity of genes while the child is in the womb. However, if you already have a child with Angelman Syndrome or if you yourself have been diagnosed with it, then it is best to take the advice of a doctor before planning another pregnancy.
Types of Angelman Syndrome :
There are no defined types of Angelman Syndrome. However, one can classify it in 3 categories:
- Where the chromosome 15 is missing altogether in the genes.
- Where the mother’s part of Chromosome 15 is missing and the father’s part is present but inactive.
- Where the father’s part of Chromosome 15 is missing and the mother’s part is present but inactive.
Children diagnosed with Angelman Syndrome have delayed intellectual growth which puts them behind their contemporaries. Initially they also experience jerky movements of body parts, difficulty in speech and sleep disorders. However, with age, these complications tend to lessen. As adults, people may have difficulty in intricate tasks like tying shoelaces and eating with a knife and fork but it is not a very major problem. Women with Angelman Syndrome also generally tend to get obese in later years of their life.
Home Remedies :
Children diagnosed with Angelman Syndrome require and deserve more care and attention than normal babies. The syndrome cannot be cured but its effects can be lessened by helping the child improve his speech and movements through therapies or through regular lessons which may not be required by a normal child.
Defects in the genes of a child cannot be repaired and therefore there is no absolute treatment for this. But the problems that his syndrome causes can be treated to some extent. For example, there are prescribed drugs for the epileptic seizures that some people suffer. Physical, Communication and Behaviour therapy can also be administered to the child at a young age by a team of professionals.
Probability for Diagnosis :
Angelman Syndrome is an extremely rare occurrence, affecting 1 in 12,000-20,000 babies. It is not inheritable. Also, having one child with the syndrome doesn’t mean that all your children will be diagnosed with the same. It is simply nature’s incurable loophole.