| Popis: |
Children with Dravet syndrome, a rare developmental and epileptic encephalopathy, encounter difficulties in the development of motor skills before 2 years of age. The patients present with a delay in early motor development, followed by gait impairments and limitations in functional mobility, leading to a decrease in quality of life. Due to the lack of knowledge regarding motor development in Dravet syndrome, it is difficult to find an adequate treatment for the motor disorders. Moreover, information on the evolution of gait is lacking for determining an adequate follow-up strategy of the gait pattern. Therefore, the aim of this PhD project is to define the evolution of motor development and gait in children and young adults with Dravet syndrome. Our research showed that most of the children with Dravet syndrome present with a delay in motor development by the age of 2 years. Even before this age a delay in the acquisition of sitting and walking independently was seen in approximately half of the children. We also found a large diversity in early gross motor milestones acquisition. We discovered a strong positive relation between cognitive and motor development and we found that a later age of independent walking is associated with worse cognitive development. Our findings on the evolution of gait indicate a prolonged maturation of gait until 8 years of age. Furthermore, individual deterioration of gait was observed in the children aged 8 to 18 years. After 18 years of age gait abnormalities were stable, although impaired. We also revealed limitations in functional mobility from early childhood to young adulthood. Most limitations were found in dual task activities and activities that require more stability. We found that a later age of independent walking, a more impaired gait pattern, decreased walking velocity, severe intellectual disability and overweight were related to more functional mobility limitations in Dravet syndrome. These findings indicate the importance of managing motor disorders at a young age. The great variability in motor milestones as well as in the evolution of gait indicates the need for an individual approach. Gait impairments should be detected in an early stage, which makes regular follow-up of the gait pattern essential. Improving motor functions and gait, will increase functional mobility, which in turn enhances quality of life. Severe intellectual disability and delayed age of independent walking could act as an indication for children who require more attention from the multidisciplinary team. |
