Williams-Beuren syndrome is a rare genetic disease and its main characteristics are a very friendly, hypersocial and communicative behavior of the child, although it presents heart problems, coordination, balance, mental and psychomotor retardation.
This syndrome affects elastin production, affecting the elasticity of blood vessels, lungs, intestines and skin.
- Children with this syndrome start talking around 18 months.
- But they show ease of learning rhymes and songs and generally have a high musical sensitivity and good auditory memory.
- They usually show fear when they hear applause.
- A blender.
- A plane.
- Etc.
- Because they are hypersensitive to sounds.
- A condition called hyperacusia.
Several gene claims can occur in this syndrome, so the characteristics of one individual may be very different from those of another, however, possible characteristics may include:
It is common for people with this syndrome to have health problems such as high blood pressure, otitis, urinary tract infections, kidney failure, endocarditis, dental problems, as well as scoliosis and joint contracture, especially during puberty.
Motor development is slower, takes time to walk and they have great difficulty performing tasks that require motor coordination, such as cutting paper, drawing, biking or tying their shoes.
When you’re an adult, psychiatric conditions such as depression, obsessive-compulsive symptoms, phobias, panic attacks, and post-traumatic stress may occur.
The doctor discovers that the child has Williams-Beuren syndrome by observing its characteristics, confirmed by a genetic test, which is a type of blood test, called fluorescent in situ hybridization (FISH).
Tests such as kidney ultrasound, blood pressure assessment, and echocardiography can also be helpful. Also, high levels of calcium in the blood, high blood pressure, loose joints and the starry shape of the iris, if the eye is blue.
Some peculiarities that may help in diagnosing this syndrome are that the child or adult does not like to change surface wherever he is, he does not like sand, stairs or irregular surfaces.
Williams-Beuren syndrome has no cure so it is necessary to be accompanied by a cardiologist, a physical therapist, a speech therapist and a teaching is necessary in a specialized school, due to the mental retardation of the child. Your pediatrician may also frequently order blood tests. to assess calcium and vitamin D levels, which are generally high.