Natalia Jurevna! I wrote to you on January, 3rd, and the answer have not received. I ask you otve...

[Natasha]

Natalia Jurevna! I wrote to you on January, 3rd, and the answer have not received. I ask you to answer my questions.
My daughter 5 years recently were executed. Vrach-genetik Williams's syndrome diagnoses her. Its or her body height of 98 sm, weight of 13 kg (though in mine to a sort and in a sort of the husband all of an average and above average body height), eats very badly, is very mobile. Lags behind in speech development the sversnikov ("thinks" normally, but badly says some consonants, goes in logopedic sadik) a little. Genetik speaks, that at the given stage body height and weight of the child, and mental and speech development should excite me not. What in general "to wait" from such diagnosis, what forecasts for the future, whether she can go to usual school what she will be body height? What probability of repetition of the given diagnosis if I shall want to give birth still to the child?

[Talanova E.J.]

Dear Natasha and polina (also asked this question earlier)!
Williams's syndrome - rare or infrequent enough (1 case on 20 25 thousand alive newborns) the disease caused by chromosomal disturbance. The diagnosis of the given disease is combined or complex;difficult enough, as displays of a syndrome very strongly vary and "are blocked" with displays of other diseases. The earlier it is diagnosed, the more attention give attention to the child as with Williams's syndrome - serious test, and any forecasts it is possible to give education of the child STRICTLY INDIVIDUALLY. Unfortunately, there are also mistakes or errors of statement of the given diagnosis (it or this it is necessary to be afraid as in this case there is a danger "to be guided" by the given diagnosis and "to pass" or miss" other disease with similar display). To you would be not bad independent to survey the child at several experts (having created in each case scrupulous case histories " from zero ", without the report that already gde-that Williams's syndrome is put to the child). And before to spend inspection at genetikov, it is necessary to show the child good narrow spetsialistam-to pediatrists (first of all, after careful obshcheterapevticheskogo survey, - to the orthopedist, the cardiologist, the endocrinologist, the neuropathologist, the psychiatrist and the psychologist). That genetik which has diagnosed your child data, certainly, the rights that you now first of all should excite mental and speech development. As to those data whom you have resulted or brought: them insufficiently. The FULL history of development of the child from the moment of a birth (or prenatal diagnostics if she was), and NOT ONLY BODY HEIGHT And WEIGHT which ALSO are necessary In DYNAMICS or CHANGES is necessary.
As one of examples: very much often at the given syndrome there is a hypercalcemia (a high level of a calcium in bones), on what usually also pay attention. One of often shown at Williams's syndrome of attributes is pathological phobia of loud sounds - hypersensitivity to loud sounds (but it, as well as the previous example, NOT ALWAYS And is not necessarily shown, however, if these displays are present it raises or increases probability of that the diagnosis is put, alas, correctly). The skilled or experienced children's psychoneurologist should vnimatelnejshim in the image with your help estimate or appreciate the status and dynamics or changes of development of the child (such trifles as "look" in the childhood are sometimes important even). From those data, that you have resulted or brought, that at the girl the delay of speech development is observed a little (be besides close or attentive as it is not enough data, and display of a syndrome very variously, and the doctor who has diagnosed, could "lean or base" on other displays) contradicts the given diagnosis, but she "thinks" well (more often at Williams's syndrome the return picture, but, besides, is observed slightly REPEAT, it is necessary careful inspection at the children's psychoneurologist and the psychologist).

There is also a modern technique of the analysis of a blood on presence of the chromosomal defect causing a syndrome of Williams (t. n. FISH technique), but I do not know, whether this method is applied to diagnostics of the given disease at us in the country - a method enough dear or expensive (can be, Natalia Jurevna Nekrasov - knows an official moderator of the given conference as she works in Mediko-the Genetic Centre of science of Russian Academy of Medical Science).
If the diagnosis of a syndrome of Williams will prove to be true, the child should be trained UNDER the SPECIAL PROGRAM (better - on house training under observation of experts, now it is possible or probable, the truth - it is dear or expensive...). Average body height of adult women with Williams's syndrome - 150 155 sm (at rather normal proportions).

The chromosomal disturbance causing a syndrome of Williams, arises spontaneously (casually), therefore risk to give birth to the child with the given syndrome at following sorts or labors low (same, as well as at all other population - I wrote frequency above).

Yours faithfully, Talanova Elena Jurevna, genetik.