Angelman syndrome
Content:
- Angelman syndrome symptoms
- Causes of Angelman syndrome
- Diagnostics of the Angelman syndrome
- Treatment of Angelman syndrome
Angelman syndrome is a genetic disorder with mental retardation. The illness is combined with seizures, unmotivated laughter and chaotic hand movements. Such manifestations in sick people contributed to what Angelman syndrome is often called Parsley syndrome or laughing doll syndrome or happy doll syndrome.
The eponym for this syndrome was received from the pediatrician B. G. Angelman, who first described it in 1965. According to statistics, Angelman syndrome occurs in 1 out of 10-20 thousand children.
Angelman syndrome symptoms
The symptoms of Angelman syndrome are manifold.
In some patients, they appear more often, in others less often, but in general, the clinical picture is as follows:
- External signs: the patient's head circumference is less than average values, the teeth are sparsely located, the occiput is flattened. The patient's mouth is wide, the tongue is visible from it, which is often poked out, the chin protrudes forward. Squint is sometimes diagnosed.
- Immediately after birth, nutritional problems begin. Children eat poorly, gain weight with difficulty.
- DPD is always present, at an early age children begin to sit up and walk late.
- The child understands well what they are trying to convey to him, but he can hardly express his thought. Speech development suffers.
- Hyperactivity is a characteristic feature of these children. At the same time, limb movements are chaotic, a small tremor is noticeable.
- Attention suffers, first of all, such a process as concentration. This leads to learning problems.
- Epileptic seizures are not uncommon.
- A child's smile is unreasonable, laughter is unmotivated.
- A puppet gait is characteristic of patients with Angelman syndrome, that is, the legs are minimally bent at the knee joints during movement.
- There are always sleep problems.
- The spine is curved.
- Patients do not tolerate high temperatures well, feel good in water.
If we consider the frequency of occurrence of symptoms, then patients always have problems with mental and physical development, speech, behavior, motor skills, concentration of attention suffer. In 80% of cases, children have epileptic seizures.
Less common are convulsions, deformation of the skull. Nutritional problems, strabismus, and trembling tongue are very rare.
It happens that as the patient grows up, the symptoms change somewhat. Moreover, all people with Angelman syndrome look younger than their age. Some of them start families, but the risk of having a child with a similar pathology is high.
With age, patients develop scoliosis, there is a tendency to obesity.
Causes of Angelman syndrome
The causes of Angelman's syndrome lie in genetic abnormalities, since some of the genes are missing in the 15th chromosome in sick people. These chromosomal abnormalities are explained by the phenomenon of deletions, or mutations.
Angelman syndrome develops when violations occur in the maternal chromosome, if the paternal chromosome changes, then the patient is diagnosed with Prader-Willi syndrome.
The leading cause of pathology is called abnormalities in the division of 15 chromosomes, which entail abnormalities in the creation of copies of maternal genes. Less commonly, the development of the disease leads to a mutation of paternal genes, paternal trisomy and disomy.
So, healthy people receive 1 copy of chromosome 15 from both parents, when a child receives a mutated copy from one of the parents (most often from the mother), then he develops this syndrome.
Diagnostics of the Angelman syndrome
The diagnosis of Angelman syndrome is based on a genetic study of chromosome 15. This analysis is indicated for children with hypotonia, mental and physical development disorders.
The basis for genetic analysis is the symptoms characteristic of Angelman syndrome. It is worth noting that there is a separate group of people in whom all tests remain normal, and signs of the disease are present.
Treatment of Angelman syndrome
Treatment of Angelman syndrome is reduced to the implementation of certain activities that improve the patient's quality of life. Drug therapy is powerless, since violations occur at the chromosomal level. Therefore, in childhood, therapeutic massage is indicated for the correction of hypotonia, as well as the performance of strengthening physiotherapy.
As the child grows up, he needs the help of a speech therapist. Regular practice allows you to achieve clearer pronunciation and articulation.
If you have problems with sleep, sleeping pills are recommended. So, patients are recommended to take melatonin at a dosage of 0.3 g before a night's rest (30 minutes before). Epileptic seizures, tremors of the extremities and convulsions are successfully stopped by anticonvulsants.
Mild laxatives are prescribed for stool problems.
Doctors in the United States treat Angelman syndrome with the hormone Secretin, which is used to treat children with autism. The drug is administered intravenously and helps to reduce symptoms of the disease, normalizing behavior and improving communication skills.
At the same time, people with Angelman syndrome are not flawed: they are very sociable and friendly, get along well with children, and are always in a good mood. Lack of communication skills can be replaced by non-verbal means of communication.
As for the prognosis, there is a high risk that the second child in the family will also suffer from Angelman syndrome, therefore, in order to minimize this risk, a consultation with a geneticist is necessary. The fact is that if the mutation is not inherited, then the probability of a second sick child is reduced to only 1%.
The prognosis for life is generally favorable, although it depends on the degree of chromosome damage. So, some patients fully master the skills of self-service, are able to communicate with people around them. Other patients, on the contrary, are not able to control even their own chair, unable to move and talk on their own.
In adulthood, scoliosis is a problem, as well as obesity with all the consequences of this condition.
Article author: Mochalov Pavel Alexandrovich | d. m. n. therapist
Education: Moscow Medical Institute. IM Sechenov, specialty - "General Medicine" in 1991, in 1993 "Occupational Diseases", in 1996 "Therapy".
