Focus on Motor Profile
Hello and welcome to Science with Sandra!
For this edition, I would like to highlight a publication by Dr. Valentina De Giorgis, and her team. The title of the publication is “GLUT1DS: Focus on Motor Profile.” Dr. De Giorgis is a Professor of Pediatric Neurology at the Department of Child Neurology at the Fondazione Istituto Neurologico “C. Mondino” in Italy.
The goal of the study was to describe the motor profile of a group of Italian patients with GLUT1 Deficiency using the Movement Assessment Battery for Children, 2nd Edition (MABC-2).
Dr. De Giorgis and her team point out that, although the ketogenic diet (KDT)—the standard of care for GLUT1 Deficiency—is well known to help control seizures and improve cognitive function, it appears to be less effective in managing movement disorders (MDs), which are common symptoms in this community, particularly during adolescence and adulthood.
The study focused on characterizing the motor challenges experienced by individuals with GLUT1 Deficiency and identifying potential areas for intervention.
The research included 31 participants, both children and adults, all with a genetically confirmed diagnosis of GLUT1 Deficiency who were regularly followed at the Mondino Foundation between 2021 and 2023. Each participant was assessed using the MABC-2, which evaluates the presence and severity of motor issues through three main subcomponents:
- Manual dexterity (fine motor skills): tasks involving handling small objects and precise hand movements.
- Aiming and catching: hand–eye coordination tasks.
- Balance: both static and dynamic, including posture control and coordinated movements.
Clinical data were also collected, including age at diagnosis, clinical phenotype (classical vs. complex), and treatment history, such as the age at which the ketogenic diet began.
Main findings:
- Early developmental milestones matter. Delays in motor milestones, including walking, were linked to lower motor performance later in life. Monitoring early development is essential, as identifying early motor delays may help determine whether a child could benefit from physical or occupational therapy.
- Fine motor skills are most affected. Tasks like grasping small objects or handwriting were particularly challenging. Children often showed clumsy, uncoordinated movements, while adults tended to exhibit stiffness. These issues can affect self-care, school performance, and social participation, impacting confidence and interactions.
- Balance and coordination decline with age. Children generally performed better in balance tasks than adults. Adults frequently showed muscle rigidity and difficulty with jumping, balancing, and coordinated actions—highlighting the need for ongoing physical therapy into adulthood.
- Movement disorders significantly affect daily life. Paroxysmal events and persistent abnormal movements disrupt normal motor activity, making daily routines more challenging.
- Cognition and motor skills are closely linked. Patients with higher cognitive scores also demonstrated better motor coordination. The authors suggest combining motor practice with cognitive activities—such as problem-solving, planning, and attention tasks—to support both areas simultaneously.
- Early ketogenic diet treatment helps. Patients who began the ketogenic diet earlier tended to have better fine motor abilities, emphasizing the importance of early diagnosis and timely initiation of dietary therapy.
- Early and continuous rehabilitation is beneficial. Psychomotor rehabilitation improved coordination and balance, with stronger effects when therapy started early and continued over time. Effective programs should focus on daily life activities and be personalized to each patient’s needs.
Finally, the authors recommend longitudinal studies combining long-term follow-up and kinematic assessments to provide deeper insight into motor development and impairments over time.
We thank Dr. De Giorgis and her team for conducting this study and for their care and support to our community!
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