| Abstrakt: |
Glucose transporter-1 deficiency syndrome (GLUT1 DS) is a rare metabolic disorder that affects glucose transport to the brain and often results in seizure activity and developmental delay. This case study of identical twin boys with GLUT1 DS highlights differences in neuropsychological outcome. Twin A has had no neurological symptoms but active EEG scans, while twin B has a history of transient hemiparesis, ataxia, and seizures. Twin B was assessed at age 7, before initiation of a ketogenic diet, and at age 9, after the diet was commenced. Twin A (age 9) was assessed once he began the ketogenic diet. The twins demonstrated many similarities including attention deficit, autism spectrum disorder (requiring minimal support for deficits in social communication), and weaknesses in processing speed, fine motor, and visual-based abilities. However, twin A displays somewhat stronger neuropsychological abilities and no academic concerns. Over time, twin B displayed some improvement, but poorer performance was noted across a number of domains. He also displayed a math learning disorder and greater behavioral needs. This case study adds to the growing knowledge of GLUT1 DS, particularly that its progression can continue without an intellectual disability or overt neurological symptoms and can differ between genetically identical individuals. |
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