The European portal of rare diseases and orphan drugs defines the Angelma syndromen as a "neurogenetic disorder characterized by severe intellectual deficit and distinctive facial dysmorphic features." As anticipated, the global prevalence is between 1 / 10.000 and 1 / 20.000.
That is, there are few people in the world with this rare disorder. In Spain, about 2000 people suffer from it, but there are many who have not been diagnosed, so there are about 400 cases.
Characteristics of Angelman syndrome
Although it is one of those rare diseases and with a very low rate in the population, no one is exempt from suffering from this disorder. It is a disease of genetic origin that causes a delay in development also associated with speech and balance problems. At Angelman syndrome Intellectual disability also appears and, occasionally, the appearance of seizures.
It is an incurable disease although with a good prognosis in terms of life expectancy since it is almost normal. People with Angelman syndrome They do not stop leading happy lives, although with all these limitations, they tend to smile and laugh frequently, although they also have to live with the many limitations and problems associated with the disease.
Between the Angelman syndrome symptoms the following appear:
- Developmental delays (includes no crawling or babbling between 6 and 12 months)
- Intellectual disability
- No speech or minimal speech
- Difficulty walking, moving, or balancing well
- Frequent smile and laugh
- Cheerful and enthusiastic personality
- Trouble sleeping and staying asleep
Most people with the syndrome do not have a genetic history, which would indicate that it is a rare and random disease.
Detect Angelman syndrome
Detect Angelman syndrome is not easy. In the beginning, parents begin to register some delays in their babies' behaviors, especially when compared to experiences with older siblings or with other children. Developmental delays appear between 6 and 12 months of age and this is when parents usually consult, perhaps because the baby is not crawling or babbling. On the other hand, there are children who begin to have seizures around the age of 2 or 3. The maturational delays are the most detectable symptom, something that increases as the child grows and does not develop certain skills of each age.
The people that suffer from the disease In addition to manifesting maturational delays, they present other characteristics of Angelman disorder such as:
- Stiff or jerky movements
- Small head, with the flat part at the back of the head
- Lingual interposition
- Light-colored hair, skin, and eyes
- Unusual behavior, such as flapping hands and raised arms when walking
- Sleeping problems
Causes and complications
As is known, the Angelman syndrome It is caused by a genetic alteration, located on chromosome 15, that is, in the gene that produces the ubiquitin ligase E3A protein (UBE3A). Although under normal conditions, the fetus receives genes from one copy of the mother's genes and another from the father's genes, in the case of this disorder it seems that only the mother's copy of this gene is active. and also that copy of the mother is absent or damaged. In only a few cases, these are two copies of the paternal gene, as usually the two copies are of the maternal gene.
Due to the randomness of the disorder, it is not possible to prevent it, unless an older child suffers from the disease and, from that, a geneticist is consulted before having a pregnancy again.
Unfortunately, people with Angelman syndrome can have several complications such as
- Feeding difficulties
- Hyperactivity and short attention spans. Hyperactivity decreases with age.
- Sleep disorders. Children generally need fewer hours of sleep than most people, although this becomes more regular with age. Something that can also be helped with medication and different therapies.
- Scoliosis
- Obesity