Williams syndrome is a genetic disorder that manifests itself with different alterations in the normal development of children. Its origin is in one of the chromosomes of pair 7, which is missing genetic material, and it is not a hereditary disease, although people with Williams syndrome could have a greater risk that their descendants have it as well. It occurs in 1 in every 7,500 births .
Its name comes from the New Zealand cardiologist John Williams, who in 1961 discovered, for the first time, all the characteristics of children with this alteration, referring to them as a syndrome. It is also often called Williams-Buren syndrome because German pediatrician Alois Beuren also described this disease around the same time. However, in the fifties there had already been cases of children with some of the physical alterations typical of this syndrome, but the clear cause had not been established.
SYMPTOMS OR SIGNS OF WILLIAMS SYNDROME
Williams syndrome has four common characteristics by which it is usually identified, which are the following:
– Facial features . These children usually have a narrow forehead, prominent and drooping cheekbones, a star-shaped iris, a short nose, the area between the nose and the upper lip (called the filter) elongated, full lips, and a small chin.
– Delay in cognitive and motor development . They usually have an IQ around 60-70, slightly below normal.
– Cardiovascular problems . 80% of children and adults with Williams syndrome suffer narrowing of the blood vessels, which is usually called astenosis, and in most cases it is of the supravalvular aortic type, that is, it affects the aortic artery, which is the larger the body, and goes from the heart to various points of the body.
– Hypercalcemia . This means that there is a very large amount of calcium in the blood, although in many cases it is a transient condition that only occurs in childhood. However, there are people who keep it as adults.
HEALTH PROBLEMS OF CHILDREN WITH WILLIAMS SYNDROME
Children with this syndrome usually have various health problems associated with it, such as those associated with astenosis or hypercalcemia. Thus, they may have hypertension, kidney problems, such as urgency to urinate or enuresis ; they also tend to have gastric reflux problems in babies , and also constipation. They can also have small inguinal hernias.
In addition to all this, without dealing with health problems, they also present some psychomotor and language delay during their development . That is why an intervention in these areas from when they are very small and tiny will help them to improve.
THE WAY OF CHILDREN WITH WILLIAMS SYNDROME
Children with Williams syndrome socialize very well with adults, but not with children their age. They do not show interest in playing with them, and their different appearance can probably generate rejection in other children. However, they have great desires to please adults, some of these children are very, very sociable , so they have no problem entering into conversations with strangers and even hugging them. Therefore, their caregivers (parents, grandparents, guardians …) must be aware of this aspect. Their great empathy and desire to help others make them very loved in their environment, both in childhood and in adulthood.
Although they have some delay in language development, when they reach the school stage it usually becomes less evident. What happens is that, thanks to the fact that they have more developed auditory memory than other types of ways of retaining information, since they learn a lot by imitation , the use of very elaborate and sophisticated language is seen in some children. However, their speech is quite empty, and they tend to repeat the same idea over and over again.. Another issue related to language is that understanding is not very developed either, so sometimes it is possible that they do not understand us but respond equally, although the disconnection of both discourses is noted. This does not have to be a norm, that is, not all children do, but it could happen.
CHILDREN WITH SW HAVE MANY SKILLS FOR MUSIC
IS IT TRUE THAT THEY HAVE A SPECIAL TALENT FOR MUSIC?
Children with Williams syndrome have asymmetric cognitive abilities, so there are some in which their development is lower, such as language, and others in which it is above average, such as hearing and music. On the one hand, they present hyperacusis in childhood, which is a very great sensitivity to sounds , which is why loud noises cause discomfort and pain. On the other hand, their tendency to have great musical talent has been studied. It seems that their morphology of certain areas of the brain is similar to that of very talented musicians , so it is not uncommon for a child with Williams syndrome to have a special sensitivity and interest in music, and even to interpret it .
This aspect of Williams syndrome is very well reflected in the juvenile novel ‘Mozart syndrome’ , by the Spanish author Gonzalo Moure, which deals with a teenager who establishes a special friendship with a boy her age who has this syndrome and a great musical talent.
IS THERE A TREATMENT FOR WILLIAMS SYNDROME?
There is no treatment for this syndrome, since having a genetic origin it becomes very complicated, although research in this line is focused on knowing the specific causes of the alteration of the genes to find a way to treat it.
The treatments that are put in place with children with Williams syndrome are, therefore, aimed at reducing the health problems derived from their genetic condition. For example, it is attempting to control the hiperclacemia, vascular, gastrointestinal, ear, eye, etc. scans are performed . A psychomotor intervention was also carried out since they are babies, with the interdisciplinary collaboration of experts in early care , psychologists, pedagogues, and other professionals.
Every child with Williams syndrome is different, like any other child with or without any type of diagnosed disorder . For this reason, although they all receive a series of common follow-ups to know the areas where they may have some alteration, each treatment is different. The same happens with their way of being and learning, each boy and girl presents different behavioral and learning tendencies, which also modulate with the passage of time and the education received.
EVERY CHILD WITH SW IS DIFFERENT AND RECEIVES DIFFERENT TREATMENT
HOW TO LEARN MORE ABOUT WILLIAMS SYNDROME AND FIND PARENTING RESOURCES
Our pediatrician and the doctors who specialize in Williams syndrome and the pathologies that may derive from it are the health experts who can help us better understand this developmental disorder. On the other hand, an essential source of support, information and help are the associations dedicated to Williams syndrome . In them we will come into contact with other professionals from different areas, and also with other families in the same situation. In addition to helping our sons and daughters, they also help us as parents or caregivers , who need a great deal of social support and resources.