Angelman syndrome is a rare genetic disease, the essence of which are changes in the functioning of the nervous system. Patients with Angelaman syndrome have a characteristic smile and make bizarre movements, which is why they were formerly called "puppet children", and the disease itself was called "happy puppet syndrome". What are the causes and symptoms of Angelman syndrome? What is the treatment?

Angelman syndromeis a raregenetic disease , the essence of which are disorders in the functioning of the nervous system. Its characteristic symptom is a smile like a puppet and walking like a puppet, so the disease also has a different name - happy puppet syndrome. Its prevalence is estimated at 1 in 15,000 births.

Angelman syndrome - causes

The cause of Angelman syndrome is the shortening (deletion) of a fragment of chromosome 15, which is of maternal origin (when it is of paternal origin, Prader-Willi syndrome appears).

A genetic mutation is usually spontaneous, but in some cases may be hereditary.

Angelman syndrome - symptoms

The baby does not show symptoms of the disease after birth (only feeding problems may appear). However, developmental delay is noticeable after 6 months of age. A child with Angelaman syndrome begins to crawl around 22 months of age, sits down only between the ages of 1 and 3, and the ability to walk develops very late, around 5, but some children cannot walk at all.

Patients show a characteristic gait and smile, which make them resemble a puppet

In addition, the child suffers from movement and balance disorders, which is manifested by an unsteady, unsteady gait, with widely spaced legs (gait ataxia). This gait is very distinctive and resembles the way a puppet moves.

There are also noticeable changes in the appearance of the face - a large mouth, a large lower jaw, widely spaced eyeballs and a protruding tongue. In addition, there is a characteristic smile like a puppet.

Speech development is delayed - the child can only pronounce a few words. You can only communicate with him non-verbally.

Children with Angelman syndrome also develop behavioral disorders. The mostJoyfulness and bouts of laughter, which often occur in inappropriate situations, are characteristic. Children with this syndrome are often hyperactive and mobile - hand flapping is especially characteristic. Then they look like little angels flapping their wings to take to the air. For this reason, children with this syndrome are now called "angels" instead of "puppets".

Most patients suffer from microcephaly and convulsions (usually occur until the age of 3). They may also have difficulty swallowing and constipation, trouble sleeping, scoliosis, and obesity.

Angelman syndrome - diagnosis

The diagnosis is made on the basis of the above-mentioned symptoms and genetic testing. At the time of diagnosis, other neurological conditions should be ruled out, such as autism or cerebral palsy, with which the disease is often confused. This was the case, for example, in the case of Colin Farrell's first son, James, in whom Angelman syndrome was initially mistaken for cerebral palsy.

Angelman syndrome - treatment

A child with Agnelam syndrome requires, first of all, rehabilitation. Exercises in water are especially recommended (because they are fascinated by it). Thanks to them, the child's balance and coordination improve. They also prevent the further development of scoliosis and cramps. Due to the seizures that begin at an early age, anticonvulsant medications are required. In addition, the help of a psychologist and speech therapist is necessary.

Angelman syndrome - prognosis

Life expectancy of patients is normal, but they are dependent until the end of it.

Category:

Genetic diseases