Williams syndrome

Definition

"Williams Syndrome" means a rare genetic disorder, a behavioral disorder that causes cognitive delay, developmental deficiency, associated with cardiac and vascular malformations. The syndrome owes its name to Dr. Williams, who first described its symptoms around 1960.

Incidence

Williams syndrome is included among rare genetic diseases, considering that it affects one person every 20, 000: unfortunately, the incidence of the disease seems to be underestimated, since it is a "recent" syndrome, or rather, it has been recognized as such only recently.

Causes

The causes that cause Williams syndrome have been studied for many authors; it seems that the disorder has a genetic origin and is transmitted in an autosomal dominant way. Sons and affected parents have a marked physical similarity, despite the fact that each affected person can only show some of the clinical features.

The genetic anomaly is given by notable chromosomal alterations, whose triggering factor still remains unpredictable; however, scholars believe that the deletion (therefore, the loss) of a part of the long arm of chromosome 7 is the main cause responsible for developmental delay and cognitive disorders typical of Williams syndrome. In this area of ​​the chromosome, the gene responsible for the synthesis of elastin, a structural protein responsible for the elasticity of tissues and organs, is also present: it is clear that, when the production mechanisms of this protein are altered, the system goes haywire and the strength and elasticity of the blood vessel walls is lacking.

Symptoms of Williams Syndrome

Children with Williams syndrome, as well as adults, have abnormalities of facial features, structural abnormalities, bone fragility, renal complications, cardiovascular malformations, disorders affecting the auditory system, growth deficiency or early pubertal development, motor coordination and short-term memory impairment. Those affected by the syndrome are often hyperactive, anxious, restless and complain of difficulty falling asleep.

Some clinical aspects deserve further investigation, being essential elements of recognition for Williams syndrome:

• "Face of the elves": patients with Williams syndrome have alterations on the features of the face; in fact, the eyes of sick patients appear very far apart, just like the teeth, the lips are notably fleshy, the chubby cheeks, the undeveloped chin and the nose turned upwards. Typical of patients with Williams syndrome is strabismus, along with microencephaly (poorly developed head) and the voice so hoarse it seems almost suffocated.

A patient with Williams syndrome may present the clinical aspects just listed more or less consistently, based on the severity of the syndrome.

• Cardiovascular malformations: cardiac disorders are very frequent among patients with Williams syndrome (it is estimated that 80% of affected individuals suffer from cardiovascular problems).

Most patients are hypertensive.

• Disturbances affecting the auditory system: subjects affected by Williams syndrome have particularly sensitive hearing; consequently loud noises, screams and confusion could scare them off considerably.
• Cognitive deficits: Williams syndrome causes a considerable mental and language delay to the patient. Therefore, up to the age of three, affected children tend not to talk, although verbal skills are generally acquired almost completely with age. The learning deficit can be corrected when promptly taken care of.
• Early pubertal development: secondary sexual characteristics develop before the healthy population. In fact, the development coincides approximately with the 9 years, both for males and for females; furthermore, the final average height is around 156 cm in males and 147 cm for women, a height definitely below the standard normality values.

The social attitude of those affected by Williams syndrome is peculiar: they tend to be particularly kind and extrovert with strangers. Despite what has been said, affected patients have significant difficulties in relating to peers.

The Italian Association of Williams Syndrome has the objective of encouraging research, in order to inform the population to clarify the associated symptoms, educational and rehabilitative aspects: the future hope is to solve (at least) the most serious disorders afflicting patients with Williams syndrome.

Summary

To fix the concepts ...