Early Motor Development and Rehabilitation Outcomes in Apert Syndrome: Gross Motor Function Measures-Case Report

Apert syndrome is a rare genetic disorder characterized by craniofacial anomalies and limb malformations, often accompanied by neurodevelopmental abnormalities that can considerably affect motor development.

The aim of this study was to document the progress in motor development of a girl with Apert syndrome, with an emphasis on assessing functional needs and evaluating the effects of a multidisciplinary rehabilitation approach.

Motor functions were evaluated using the Gross Motor Function Measure (GMFM-88) at 16 and 24 months of age. Rehabilitation consisted of an intensive physiotherapy program, Dynamic Movement Intervention (DMI), delivered in monthly cycles over eight months. The therapeutic approach focused on developing postural control, transitional positions, and functional mobility while stimulating sensorimotor integration and neuroplasticity.

The initial GMFM score was 29.00%, and the final assessment score reached 68.68%, representing a relative improvement of 136.83%. The most considerable progress was observed in sitting, crawling, and kneeling, with initial improvements in standing. Despite the limitations of this study, the results suggest a positive effect of early, intensive, and individualized rehabilitation combined with active family involvement.

The outcomes highlight the importance of early assessment, continuous monitoring of motor development, and a multidisciplinary rehabilitation approach in children with Apert syndrome, with the GMFM serving as a valuable tool for evaluating gross motor function.