THE Williams Syndrome, or Williams-Beuren Syndrome, is a genetic disorder, rarely with a hereditary manifestation, and which occurs in approximately one child in every twenty-five thousand births; presenting impacts in the behavioral, cognitive and motor areas. Described in the 1960s, it occurs in both sexes and ethnic groups, and is not always easily diagnosed.
Such people, in most cases, have alterations in the elastin gene locus, in an arm of chromosome seven. The decrease in this protein, therefore, justifies why they usually present alterations cardiovascular, hoarse voice, small genitalia, characteristic face, frequent need to urinate and premature aging. Approximately thirty other genes, on that same chromosome, result in the other characteristics attributed to the syndrome.
Their faces tend to follow certain traits, such as a small, upturned nose, large lips, small teeth, prominent cheeks, and a small chin; always presenting themselves smiling. Despite being born with a lower birth weight, and having slower growth, puberty usually starts earlier.
People with this syndrome, despite taking a little longer to speak, express themselves in a very articulate and fluent way, being very sociable, enthusiastic and communicative. They have difficulty recognizing other people's ironies or nonverbal intentions. Children tend to have an easier time dealing with adults than with people their own age.
They often use stereotyped phrases, easily record names of people and places, and tend to have anxious and hyperactive behavior. They are afraid of heights and uneven surfaces, have difficulty walking and balancing, and also learning difficulties, especially with regard to numerical calculations and orientation. space. Considering that most educators are not properly prepared to deal with students in special conditions, such difficulties can be much greater than they actually are.
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Because they are hypersensitive to sounds, they can be startled by certain noises and noises; but, on the other hand, they have great facility and resourcefulness with music.
Diagnosis
In many cases, the clinical analysis of the patient already offers conclusive results. However, it may be necessary to perform white blood cell karyotype tests and analysis of elastin and L1Mkinase genes by a technique known as FISH.
How to deal with the person with Williams Syndrome?
Williams Syndrome has no cure. However, early diagnosis and follow-up since childhood allow for certain cognitive, behavioral and motor aspects to be worked on, offering excellent results.
Encouraged and trained from childhood, they are able to gain relative autonomy and even exercise a profession. At school and at home, the child can follow, along with others of his/her age, what he is capable of, being differentiated care is needed only in situations where their learning needs this type of help.
In addition, early monitoring allows for the relief of symptoms and prevention of diseases whose carriers are predisposed. Thus, it may be important to periodically carry out cardiac, hearing, vision and calcium dosage exams; weight and nutritional monitoring (since 30% of adults with this syndrome tend to be obese); assessment of digestive and urinary problems, orthopedic, neurological and dental.
With this care, the life expectancy of patients is normal.
By Mariana Araguaia
Graduated in Biology
