Smith-Magenis Syndrome (CCM) can occur in 1 out of 25,000 children. But thanks to the development of cytogenetic diagnosis, it is determined more often. It occurs sporadically and in any ethnic communities.
What is SMS?
Smith-Magenis syndrome is a pathology that causes a child to delay development and certain behavioral and physical abnormal signs.
Children affected by this syndrome can also suffer from autism, OCD (obsessive-compulsive disorder), GGDV (hyperactivity disorder and attention deficit disorder), and mood disorder.
In addition to Smith-Magenis syndrome, these children often have the following medical problems:
- total or partial hearing loss;
- kidney and heart defects;
- retinal detachment.
Symptoms of the disease
Symptoms accompanying Smith-Magenis syndrome are manifested in the form:
- special features;
- impaired mental activity to varying degrees of manifestation, ZPR (mental retardation);
- regular changes in behavior.
Often the appearance of children with SSM is similar to the appearance of children with Down syndrome. In addition, physical symptoms in these patients are manifested as follows:
- They have a broad face shape with deep set eyes. The lower jaw protrudes strongly. Often these children are diagnosed with strabismus and myopia.
- They usually have reduced muscle tone, short stature, scoliosis and flat feet, a hoarse voice, weak reflexes, and low pain sensitivity.
- Patients suffer from a delay in the development of speech, impaired articulation.
- They are characterized by sleep disorders, that is, often such children can sleep in the daytime, and stay awake at night. In infancy, they may not even wake up to feed, they have to wake them up.
- Patients suffer from bouts of aggression. They come suddenly, and at these moments a person can cause serious harm to himself or other people. They scratch, bite, hit the wall, pull the hair.
Of the other symptoms in the behavior, tendencies toward hugging oneself were noticed, and these hugs are quite strong.
Such children cannot concentrate for a long time on one lesson or subject. They are often either very impulsive and hyperactive, or too lethargic and sleepy.
As a rule, the parents of such children note that they are very cute and kind until there is a flash of rage. At such moments, they themselves may suffer at the hands of their child.
Causes of Smith-Magenis Syndrome
The reason SSM occurs is because changes have occurred in the 17th chromosome gene, there are abnormalities, or a small area is missing.
This trait is not always inherited from parents and affects equally both boys and girls. Changes preceding the onset of the syndrome occur at the stage of conception.
Treatment and help with SSM
Unfortunately, the realities of today are such that this disease is not amenable to treatment. There are no medical means with which it would be possible to rid the newborn of the syndrome.
But parents are able to alleviate this situation and help the baby overcome the most difficult moments. If medical intervention is carried out in the early stages, then professionals can help. This is a teacher, psychologist, physiotherapist, speech therapist, etc.
It is important that parents ask as many questions as possible to specialists. After all, the more information about the problem is known, the more opportunities there are to solve it.
In addition, parents can contact other people raising such children, as well as use the services of a psychologist for personal purposes. Since, in order to care for such children, the parents themselves must be healthy physically and mentally.