A rare genetic disorder occurring in one out of 10 thousand. With Angelman syndrome are born, what are the first signs?
Angelman syndrome is a rare genetic disease that causes developmental delay and neurological problems. Angelman syndrome is a classic example of genetic imprinting caused by deletion (loss of part of the chromosomes) or the inactivation of genes of the maternal 15th chromosome.
To detect the syndrome of Angelman, perhaps even before birth in two ways:
Can not be called absolutely safe.For the diagnosis requires to study the amniotic fluid, which would require penetration into the uterus.
Safe, which examines the blood.
Genetics will analyse the DNA structure of the child, which will become clear whether it has some variations or not. In addition AS this test can diagnose other syndromes, such as:
So, when a non-invasive method for the analysis do not need to take the amniotic fluid, and enough of the mother to donate blood. Scientists will analyze the DNA of the baby, which would make it clear whether it has some variations. Interestingly, in addition to this disorder a test to diagnose other syndromes, such as:
When similar damage occurs paternal chromosome, the Prader-Willi syndrome. Angelman syndrome is named after the British pediatrician Harry Angelman, who first described the syndrome in 1965. Angelman to describe diseases, used the term syndrome is a lucky doll, but this term is considered derogatory, so now is not used. People with Angelman syndrome are called angels, first because of the name, and secondly, because they always look happy.
For the first time the syndrome has been described by the physician Harry Angelman in 1965 when he described that in his practice there are three children with similar symptoms: flat head, convulsive movements, protruding tongue and bouts of laughter.
The results of the study disease first began to be published in the medical literature in the early 1980s. And in 1987 for the first time, it was noted that half of children with Angelman’s syndrome the missing piece of the 15th chromosome.
At birth, children with Angelman syndrome look completely normal, but in the first months of development, there are sometimes problems with feeding. Also a noticeable delay in development for 6-12 months.
Between 2-3 years, the child often starts as an acute attack of the disease (seizures, twitching)
Disorders of function of speech the child does not talk or talks very little coherent words. People with the syndrome Angelmar pronounced hyperactivity, small head size, there is sleep disturbance, disorders of balance and equilibrium, which in combination causes severe functional impairment.
Angelmar syndrome occurs due to the lack of functional copies of the gene UBE3A, which is transmitted from the mother.
There is a list of possible symptoms of Angelman syndrome mentioned in various sources describing the disease.
- Inhibition of
- Incredibly happy demeanor
- Microcephaly (small head)
- Large, blubber jaw
- Convulsive movements
- Jerky gait
- Hand tremor
- Delayed speech development, poor speech
- Laugh for no reason, sudden bursts of laughter
- Mental retardation severe
- Delayed development of motor skills
- Small head with flat occiput
- Disorders of the visual apparatus
- Increased pigmentation of the iris
- Pale blue eyes
- Retrognathia of the upper jaw
- Deep-set eyes
- Big mouth
- Protruding tongue
- Light color hair
- Widely spaced teeth
- Ataxia (loss of coordination)
- Gait resembling a puppet gait
- The characteristic position of the hands: the arms are raised and bent at the wrists and elbows
- Epileptic seizures
- Atonic seizures (inability to move)
- Low muscle tone
- Brain atrophy
- Dominant left hand
Difficulty feeding. In the first months of life the child have difficulty with feeding because the child the broken functions of sucking and swallowing. The child may lose much weight.
Hyperactivity. Most children with Angelman syndrome have a high motor activity. The children quickly switch from one activity to another, often while holding toys or fingers in your mouth. They have a very low stability of attention.
Sleep disorders. People with Angelman syndrome have significantly less time to sleep and to feel fresh. To control insomnia with the help of medications.
Curvature of the spine (scoliosis). Some people with the syndrome Angelmar develops over time lateral curvature of the spine.
Obesity. Adolescents with Angelman syndrome do not have a sense of satiety, so a lot of eating that leads to obesity.
Specific therapy for Angelman syndrome does not exist. It is necessary to treat the seizures of epilepsy. To achieve the maximum possible development potential of a person need to pass physical, occupational, communication, and behavioral therapy. Otherwise full of happiness and love a child may grow angry and unfriendly person.
Even moderate physical activity reduces the risk of developing hereditary gipertonii a quarter – scientists.
The occurrence of Angelman syndrome rare genetic abnormalities. The risk factors for Angelman syndrome was not recorded, that is, the disease occurs for unknown reasons. The disease occurs in 1 in 10 thousand.
In people with Angelman syndrome have serious developmental delays, impaired speech and movement. With adequate treatment and the right development, in the adult it is impossible to define presence of the syndrome of Angelman, but to live on their own these people can not always. Some adults with the syndrome Angelman developmental delays are not observed, they can independently manage a household and even work.