Angelman Syndrome is a rare genetic disorder present from birth. Dr Harry Angelman was the first person to describe it.
There are lots of possible symptoms of Angelman syndrome and they can differ between patients. Symptoms usually start to show in babies who are 6-12 months old.
Some of the most common include:
Angelman is a genetic disorder on chromosome 15. Humans normally have 23 pairs of chromosomes. One set is inherited from the mother and the other set is inherited from the father. Each chromosome has genes that carry instructions for every part of the human body.
In Angelman syndrome, a particular gene on chromosome 15 is faulty. In most cases, this occurs randomly. This means that both parents have normal genes on chromosome 15 and only the child has an abnormality. In a small number of cases, the abnormality is inherited from a parent.
Angelman syndrome affects boys and girls equally. It is estimated that it occurs in between 1 in 15 000 and 1 in 24 000 individuals worldwide. An internet based Global Angelman Syndrome Registry can be found at https://angelmanregistry.info. This allows parents and caregivers to enter data points onto the registry for access by researchers.
Because of the rarity of Angelman syndrome, as well as the many different symptoms, it can be difficult to diagnose.
A doctor may start to suspect a problem if a child does not meet normal developmental milestones. Developmental milestones are normal parts of a child’s development and growth. Examples are starting to speak or crawling. Some common missed developmental milestones in children with Angelman syndrome include:
If this occurs, a doctor will then request tests to look for the cause. They will usually start with blood tests. There may be several rounds of blood tests to look for common causes of the baby’s symptoms.
If the other tests are normal, the doctor will start to look for genetic causes. Specialised blood tests which look at the baby’s genes make the diagnosis. A child is usually 1-4 years old when Angelman syndrome is diagnosed.
Before any type of genetic testing, it is important that the patient and family speak with a genetic counsellor. This is a healthcare professional trained to speak about the risks and benefits of the tests.
Unfortunately, there is no cure for Angelman syndrome. However, with social support and therapy, many patients can expect a close to normal lifespan. Patients with Angelman syndrome usually require aid throughout their lives. Some examples of the types of aid needed are:
Families are an important part of treatment for Angelman syndrome patients. Psychological therapy for the whole family may be helpful.
As patients with Angelman syndrome age, they can become prone to obesity and stiffening of joints. Balance problems can lead to falls in older age.