Abstract | Spina bifida je kongenitalni defekt koji nastaje zbog nepravilnog ili nepotpunog zatvaranja neuralne cijevi. Dolazi u dva oblika, a to su zatvoreni (lat. occulta) i otvoreni (lat. cystica). Otvoreni tip dijeli se na meningokelu i meningomijelokelu, za koju se smatra da je najteža kongenitalna malformacija spojiva sa životom. Točan uzrok je još uvijek nepoznat, no poznato je da nedostatak ili problemi s apsorpcijom folne kiseline mogu uzrokovati poteškoće koji se vežu uz zatvaranje neuralne cijevi. Zbog toga su kao način prevencije mnoge zemlje odredile minimalnu dozu folata koja se mora nalaziti u namirnicama. Što se tiče dijagnostike, ovo se stanje dijagnosticira prenatalno i to najčešće indirektno, uviđanjem abnormalnih proporcija kostiju lubanje. Liječenje je komplicirano i zahtijeva operativni zahvat zatvaranja spine bifide. Razvojem znanja u medicini, ti su se zahvati počeli obavljati još kad je plod u maternici i na taj način mu se daju veće šanse za samostalni oporavak do poroda. Dijete rođeno s ovim deformitetom u većini slučajeva boluje od hidrocefalusa i Arnold Chiari malformacije, i to najčešće tipa II. Još neka stanja koja često idu uz ovu dijagnozu su i problemi s mokraćnim i probavnim sustavom, problemi mišićno-koštanog sustava, kognitivne poteškoće, alergija na lateks i mnoga druga stanja koja ovise o težini same deformacije. Budući da spina bifida ima veliki utjecaj na lokomotorni sustav, oboljela djeca zahtijevaju iscrpnu fizioterapiju. Ona obuhvaća temeljitu procjenu u kojoj se promatraju sve strukture na tijelu, postura, ožiljak od operativnog zahvata, kretanje u prostoru te mnoge druge komponente. Zatim se postavljaju ciljevi i plan terapije, nakon čega slijedi fizioterapijska intervencija koja može trajati godinama. Najčešće obuhvaća određene koncepte poput Boobath tehnike, Vojte, Baby Handlinga te vježbe u vodi. Kako bi ishod bio što bolji potrebno je uključiti multidisciplinarni tim i roditelje djeteta koji su i glavni u habilitaciji jer su s njime 24 sata na dan. Prikaz slučaja prikazuje dječaka starosti 19 mjeseci s meningomijelokelom koji dolazi na neurorazvojnu fizikalnu terapiju i kod kojeg se ulažu napori da se njegovo teško stanje uspije dovesti do razine da dijete jednog dana bude barem djelomično samostalno. |
Abstract (english) | Spina bifida is a congenital defect caused by improper or incomplete closure of the neural tube. It comes in two forms, which are closed (occulta) and open (cystica). The open type is divided into meningocele and myelomeningocele, which is considered to be the most severe congenital malformation compatible with life. The exact cause is still unknown, but it is known that a deficiency or problems with the absorption of folic acid can cause difficulties associated with the closure of the neural tube. Because of this, as a method of prevention, many countries have determined the minimum dose of folate that must be found in food. As for diagnostics, this condition is diagnosed prenatally and most often indirectly, by observing abnormal proportions of the bones of the skull. The treatment is complicated and requires surgery to close the spina bifida. With the development of knowledge in medicine, these interventions began to be performed while the fetus is still in the womb, and in this way, it is given greater chances for independent recovery until delivery. A child born with this deformity in most cases suffers from hydrocephalus and Arnold Chiari malformation, most often type II. Some other conditions that often accompany this diagnosis are problems with the urinary and digestive systems, problems with the musculoskeletal system, cognitive difficulties, latex allergy and many other conditions that depend on the severity of the deformity itself. Since spina bifida has a great impact on the locomotor system, affected children require extensive physiotherapy. It includes a thorough assessment in which all structures on the body, posture, surgical scar, movement in space and many other components are observed. Goals and a therapy plan are then set, followed by physiotherapy intervention that can last for years. It most often includes certain concepts such as the Boobath technique, Vojta, Baby Handling and water exercises. In order for the outcome to be as good as possible, it is necessary to involve a multidisciplinary team and the child's parents, who are also the main ones in habilitation because they are with him 24 hours a day. The case report shows a 19-month-old boy with myelomeningocele who comes to neurodevelopmental physical therapy and where efforts are being made to bring his severe condition to the level where the child will one day be at least partially independent. |