Angelman syndrome is a congenital disease and, fortunately, is not particularly common. Although on average it is diagnosed in one of 10 000-30 000 children. The cause of the disease is a gene mutation in the 15th chromosome in the mother. If such a mutation occurs in the paternal gene material, then the child develops another disease, Prader-Willi syndrome. The mutation is unstable, and the chances of having a second child with the same disease in the same mother are 1 to 100. Initially, the doctor himself called it the "happy puppet syndrome", sick children surprised with a happy expression on their face and a special gait with severe general symptoms.
Harry Angelman, giving the name of the disease, did not particularly think about the ethical side of the term. Happy puppet syndrome appeared in medical dictionaries in 1965, when a pediatrician from the UK saw and described three identical cases from his practice. The children were distinguished by an unreasonable laugh, a “loose” gait and uneven movements and a special expression of happiness on the face.
How does the "happy" syndrome manifest itself in a child?
The cunning of the disease is that it affects the child’s body even during fetal development: the chromosomal deletion “turns on” in the early stages of fetus formation. However, during pregnancy, or in the first 6 months, signs of pathology are not visible. MRI, CT in children also do not reveal abnormalities in the brain structure. And if the level of medical diagnostics leaves much to be desired, then a child with a mild or moderate form of the syndrome has all the chances to remain without an official diagnosis. And it will be observed by specialists about the frequent manifestations of the syndrome - epilepsy, disorders of speech, mental development and behavior. At the same time, if the correction is carried out promptly and correctly, the number of patients with mental retardation with Angelman syndrome is very low: no more than 5 out of 100 children.
Symptoms of the disease most often begin to occur at the age of 6 months to a year.
What early signs can be seen in a child?
The first is the symptomatology of developmental delays, while all the skills that the child has achieved by 6 month (grabbing toys, sitting, crawling, maintaining eye contact, walking, etc.) are preserved. The baby just begins to lag a bit in mental development, and the motor function suffers: the limbs begin to move erratically, the hands may tremble, the balance of the body is disturbed, the child often falls, etc.
The second is a violation or lack of speech function. Children may not speak at all, keep their speech at the level of a whirl, or progress to syllabic speech with a minimum vocabulary of a dozen words.
The third, and this is the most striking feature, is a behavior disorder. A child often, too often having fun and laughing for no reason, can manifest a special “love” for a toy, water, objects, at the sight of which the baby is filled with a happy laugh even in a tired and very capricious state. Further, there may also be an insufficient concentration of attention, rapid switching from one state to another, stereotyped movements.
In addition to the main symptoms, there are often rare, but also present in the clinical picture of the disease. Angelman’s syndrome differs from other pathologies that manifest themselves in impaired speech development in that children willingly communicate, understand the addressed speech and actively communicate using non-verbal means: gestures, facial expressions, sign speech.
There is a more rare symptom, which is important because it allows one to suspect a disease already in an infant: impaired control of the movements of the tongue. A baby with such a symptom sucks a breast or a bottle with great difficulties, nutrition comes in insufficient quantity.
In children, due to Angelman syndrome, characteristic changes in appearance can also form: strabismus, scoliosis, enlargement of teeth with a sparse dentition, full lips and a wide mouth, a flattened nape, a protruding tongue, a protruding chin.
Unfortunately, today there is no specific therapy that could cure children suffering from Parsley syndrome. You can only help alleviate the symptoms of the disease and improve the quality of life of the child. As a rule, medications are prescribed for epilepsy, sedatives, if necessary, use methods of physiotherapy. For mental development attract speech pathologists, speech therapists, specialists in behavioral therapy and non-verbal communication methods. The prognosis for this disease is different and very dependent on the site of damage to the chromosome, but throughout the life of the child a parent or guardian is needed nearby.