This blog was created by a mom who has a daughter suffering from the syndrome of Prader - Willi to explain, help and ask for help.
know the syndrome Prader - Willi ?
syndrome Prader - Willi ( PWS) is a rare genetic disease, caused by an abnormality of chromosome 15.
affects both sexes equally, since the stage of conception, and has a prevalence in the general population, from 1 in 20,000 to 1 in 50,000.
Due to poor knowledge of the disease, however, may be more common than you think.
The PWS is characterized by various clinical manifestations, some of which are present at birth, while others appear more late.
In each patient a specific symptom may be more or less acute and its severity does not affect that of the other signs simultaneously present.
The PWS seems mainly due to a dysfunction of the hypothalamus, the structure of the central nervous system that regulates, among others, the sense of hunger and satiety .
As for the prenatal, pregnancy is often characterized by a reduction of fetal movements and breech presentation is common, which is often used for cesarean section.
In the neonatal period are very characteristic muscular hypotonia and feeding difficulties, so that for the first months of life has little weight gain.
are frequently present a reduced development of the external genitalia, undescended testes in the male, small hands and feet, almond eyes, thin upper lip and other facial abnormalities. They also late sitting, walking and speech.
usually improves muscle tone from the first 2-3 years of life but at the same time there was a increased appetite, associated with reductions in sense of satiety, which leads the patient to overeating.
This leads, if not controlled early, the development of severe obesity often, which is frequently associated with diabetes mellitus , sleep apnea syndrome, ipertensionearteriosa , and other complications that affect the quality of life and mortality subjects PWS .
mental retardation is usually mild, but over the years can appear in the character and behavior disorders, with alternating moments of calm interspersed with irritability and temper tantrums, more rarely of the kind of violent, especially in adults. In any case PWS are often friendly and have good attitude interrezionali .
pubertale The development is almost always delayed and incomplete, particularly in males, although they were rarely described cases of precocious puberty and the presence of fertility in females.
are also often short stature as well as scoliosis and kyphosis, osteoporosis early, strabismus, salivation dense and sticky, tooth decay and the habit of scratching the slightest Ascor skin to form skin lesions that can become infected.
Body temperature can be unstable and there is often a reduced sense of vomiting and a lower skin sensitivity to pain, besides the heat and cold.
So in simple words sum up these children, teens and adults will never have a normal life and simple. Also for their families to follow and guide these children is not easy.
The association "Francesco Pio for help with subjects with syndrome Prader - Willi and their families has been created not for profit but for the search for funds that may help doctors discover new treatments tailored to the needs of these patients and families in need of emotional support, practical and why not also economic.
For those who want to help financially can make a deposit on a bulletin c / c postale No.: 87681300 name of the association or by bank transfer with the following coordinates: IT 34 W076 0115 7000 0008 7681 300, or via paypal
THANKS TO ALL
0 comments:
Post a Comment