Application of a kinesiotherapy program in the rehabilitation of a child with CHARGE syndrome - Case Report

Abstract

CHARGE sindrom je rijetki genetski poremećaj obilježen brojnim kongenitalnim malformacijama i senzoričkim oštećenjima. Ključna mutacija u genu CHD7 uzrokuje širok spektar simptoma poput koloboma oka, srčanih mana te koanalne atrezije. Oštećenja sluha i vida, kao i motorički, kognitivni i socio-emocionalni izazovi značajno utječu na kvalitetu života oboljelih. Rana dijagnoza omogućuje pravovremenu intervenciju multidisciplinarnog tima stručnjaka, što je presudno za razvojne ishode djece. U prikazu slučaja djevojčice s CHARGE sindromom proveden je kineziterapijski program usmjeren na koordinaciju gornjih ekstremiteta i finu motoriku. Primjenom standardiziranih testova poput Bruininks-Oseretsky Testa (BOT-2) pokazano je da individualizirani rehabilitacijski pristup može značajno unaprijediti motoričke sposobnosti i samostalnost djece s CHARGE sindromom. Završni rad istražuje učinke primjene kineziterapijskog programa na funkcionalne sposobnosti djece s CHARGE sindromom.CHARGE syndrome is a rare genetic disorder characterized by numerous congenital malformations and sensory impairments. A key mutation in the CHD7 gene causes a wide range of symptoms, including ocular coloboma, heart defects, and choanal atresia. Hearing and vision impairments, along with motor, cognitive, and socio-emotional challenges, significantly impact the quality of life of affected individuals. Early diagnosis enables timely intervention by a multidisciplinary team of specialists, which is critical for developmental outcomes in children. In the case study of a girl with CHARGE syndrome, a kinesitherapy program focused on upper limb coordination and fine motor skills was implemented. Using standardized assessments such as the Bruininks-Oseretsky Test (BOT-2), the study demonstrated that an individualized rehabilitation approach can significantly enhance motor abilities and independence in children with CHARGE syndrome. This thesis explores the effects of applying a kinesitherapy program on the functional abilities of children with CHARGE syndrome