Abstract | Down sindrom je genetski poremećaj koji nastaje prilikom nepravilnog prijenosa kromosoma. Tri su tipa Down sindroma: klasični tip, mozaički tip i translokacijski tip. Starija životna dob majke predstavlja jedan od najčešćih rizika za razvijanje ploda s Downovim sindromom. Karakteristike navedena sindroma su individualne te se uglavnom radi o malim ušima, širokim šakama i koso položenim očima. Uz to, nerijetko je prisutna i slabovidnost, nagluhost, mišićna slabost i sl. Kako bi se na vrijeme počelo s rehabilitacijom, važno je prvo postaviti ispravnu dijagnozu koja u ovom slučaju može uključivati procese kao što su: amniocenteza, ultrazvučna dijagnostika i fish metoda. S obzirom na kombinacije mogućih stanja u vidu srčanih, endokrinoloških, probavnih, lokomotornih, osjetilih i psiholoških teškoća određuje se funkcionalni status. Liječenje uključuje timski rad koji čine fizioterapeut, kardiolog, endokrinolog, logoped, ortoped, oftamolog, psiholog i svi ostali potrebni zdravstveni stručnjaci ovisno o zdravstvenom stanju pacijenta. U liječenju Downova sindroma fizioterapija uz ostale medicinske intervencije zauzima važnu ulogu. Fizioterapija kod ovog oboljenja može uključivati postupke kao što su: senzorna integracija, neurorazvojna tehnika, terapija pokretom, hipoterapija, halliwick terapija, vojta terapija i sl. Fizioterapijskim procesima se nastoji optimizirati motoričke vještine i minimizirati razvoj neprirodnih kompenzacijskih pokreta. Važno je pristupiti svakom djetetu individualno s obzirom na različitosti poteškoća koje se mogu javiti uz navedenu dijagnozu. Glavni cilj liječenja djece s Downovim sindromom je olakšavanje njihovog odrastanja i da im se omogući ostvarivanje potencijala u potpunosti. Za kvalitetne rezultate liječenja potrebna je i angažiranost roditelja i što bolja motivaciju djeteta. |
Abstract (english) | Down syndrome is a genetic disorder that occurs when chromosomes are transferred incorrectly. There are three types of Down syndrome: classical type, mosaic type and translocation type. Older age of the mother represents one of the most common risks for the development of a fetus with Down syndrome. The characteristics of the mentioned syndrome are individual and are mostly small ears, wide hands and specifically set eyes. In addition, it is not uncommon to have low vision, hearing loss, muscle weakness, etc. In order to start rehabilitation on time, it is important to first make a correct diagnosis, which in this case may include processes such as: amniocentesis, ultrasound diagnostics and the fish method. Considering the combinations of possible conditions in the form of cardiac, endocrinological, digestive, locomotor, sensory and psychological difficulties, the functional status is determined. Treatment includes teamwork consisting of a physiotherapist, cardiologist, endocrinologist, speech therapist, orthopedist, ophthalmologist, psychologist and all other necessary health professionals depending on the patient's health condition. Physiotherapy, along with other medical interventions, plays an important role in the treatment of Down's syndrome. Physiotherapy for this disease can include procedures such as: sensory integration, neurodevelopmental technique, movement therapy, hippotherapy, Halliwick therapy, Vojta therapy, etc. Physiotherapy processes aim to optimize motor skills and minimize the development of unnatural compensatory movements. It is important to approach each child individually, considering the variety of difficulties that can occur with the above diagnosis. The main goal of treating children with Down syndrome is to facilitate their growth and to enable them to fully realize their potential. Quality treatment results require the involvement of the parents, as well as the best possible motivation of the child. |