Better understanding of the Williams-Beuren syndrome

Today, 1 in 20 000 children born carrying the Williams-Beuren syndrome, a rare genetic disease, first described in 1961. This syndrome is the association of mental retardation, congenital heart disease and a characteristic behavior of the person affected. Update on the syndrome still young.
Williams-Beuren: a disease "orphan"
The loss of a small part of chromosome 7 syndrome, Williams-Beuren is a chronic, progressive disease that can be life-threatening. Easily identifiable in childhood, it equally affects boys and girls.
Several specific signs used to diagnose, which can not be confirmed by chromosomal analysis:
- Heart disease in 75% of cases;
- Growth retardation (weight, height);
- Delayed motor development;
- Mental retardation of varying intensity;
- Facial dysmorphism (known face elf);
- Eye disorder;
- Hypercalcemia responsible for dental problems and food products.
These signs may be accompanied by an attentional deficit, a hyperactivityof sleep disorders andanxiety disorders.

Williams-Beuren: a treatment case by case

Currently, there is no cure for Williams-Beuren syndrome. Each case is different, treatment is adaptive and focused on the child's symptoms, primarily with long-term surveillance of cardiac abnormalities, sometimes including surgery.

Multiple violations are

Of impaired balance and motor coordination and a late acquisition of walking are common.
The cognitive profile shows an intellectual deficit, disorders and severe visuospatial great difficulties of abstraction. Reproduction of a simple design is almost impossible. Despite a slight delay, the language is correct, the child is often very talkative, with a hoarse voice. Auditory memory may be overdeveloped, with a hypersensitivity to noise and aptitude for music.
Emotional and very sensitive, these children are hypersocial, instead seeking the company of adults.

Importance of multidisciplinary management and evolution

The educational care of children with Williams syndrome-Beuren must be early and involve many professionals: pediatrician, speech therapist, physiotherapist and / or occupational therapist, psychomotor, psychologist, orthodontist.
The difficulties facing school guidance when entering primary school and a school suited is often considered (help, integrated device or institution). Most children learn to read but remain significant difficulties in mathematics, including calculus. Many acts of daily life require their learning because of difficulty with coordination and motor organization.
Despite difficulties in managing the daily to adulthood, many people who can engage in an activity professional, mainstream or not.

Advice about the Williams-Beuren syndrome

As part of prenatal diagnosis, in case of suspicion of Williams-Beuren syndrome, a genetic counseling is essential.