Mr. Stanimir TSONEV – President
(+359 2) 480 82 44
(+359) 884 663 646
PWS is characterized by hyperphagia and food preoccupations, as well as small stature and learning difficulties.
Traditionally, PWS was diagnosed by clinical presentation. Currently, the syndrome is diagnosed through genetic testing; testing is recommended for newborns with pronounced hypotonia (floppiness). Early diagnosis of PWS allows for early intervention as well as the early prescription of growth hormone. Daily recombinant growth hormone (GH) injections are indicated for children with PWS. GH supports linear growth and increased muscle mass, and may lessen food preoccupation and weight gain. The mainstay of diagnosis is genetic testing, specifically DNA-based methylation testing to detect the absence of the paternally contributed Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on chromosome 15q11-q13. Such testing detects over 97% of patients. Methylation-specific testing is important to confirm the diagnosis of PWS in all individuals, but especially those who are too young to manifest sufficient features to make the diagnosis on clinical grounds or in those individuals who have atypical findings.
Prader-Willi syndrome has no cure. However, several treatments are in place to lessen the condition’s symptoms. During infancy, subjects should undergo therapies to improve muscle tone. Speech and occupational therapy are also indicated. During the school years, children benefit from a highly structured learning environment as well as extra help. Throughout their lives, the subject’s food should literally be kept under lock and key, since the largest problem associated with the syndrome is severe obesity.
Because of severe obesity, obstructive sleep apnea is a common sequela, and a CPAP (continuous positive airway pressure) machine is often needed.
– Въздействие на синдрома
– Медицинско ръководство за родители и обгрижващ персонал
– Въпроси и отговори
– Към силите на реда по отношение на пациентите със синдром на Прадер-Вили
– Възрастни със СПВ и вземането на решения за установяване на среда на живот с минимална намеса в личния живот и правото на хранене
– Кой е правилният подход при борбата с килограмите и поведението?
– Да се опитаме да вникнем какво се крие зад гневния изблик
– Представете си…
– По въпроса за диетите
– Храната е убиец
– Преяждане до смърт
– Кога кражбата не е престъпление?
– Маладаптационно поведение при децата със СПВ
– Чуйте моя глас
– Special Anesthesia Concerns for Patients with Prader-Willi Syndrome: The Winthrop University Hospital Center Experience
– Beyond the Diet
– Central Adrenal Insufficiency in Individuals with Prader-Willi Syndrome
– Growth Hormone Treatment and Prader-Willi Syndrome
– Growth Hormone for Adults with Prader-Willi Syndrome
– Medical Overview
– Osteoporosis Evaluation and Therapy in Prader-Willi Syndrome
All the materials are courtesy of the International association of patients with Prader-Willi syndrome and have been translated in Bulgarian by collaborators of the Varna Children Endocrinology Clinic!
Last modification: 12:45 12.06.2018