Publications by authors named "G Didato"
Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life-expectancy. CLN6-related NCLs include both late-infantile and adult myoclonic form. We report a 21-year-old patient, with mild developmental delay, who developed occipital seizures at 14 years, and subsequently cognitive decline, cortical myoclonus, and photosensitivity at low and higher frequencies.
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- This case report emphasizes the need for comprehensive testing methods, including video-EEG, MEG, and MRI, to accurately diagnose negative motor seizures (NMSs) and differentiate them from other conditions.
- The study presents a 62-year-old patient with drug-resistant focal epilepsy and NMSs, highlighting the importance of monitoring that indicated specific brain activity and muscular responses during seizures.
- Findings from the multimodal evaluations revealed an epileptic zone in the right opercular region, associated with brain abnormalities, thereby improving our understanding of NMSs and their underlying brain mechanisms.
Article Synopsis
- The IRDiRC Telehealth Task Force investigated how telehealth can enhance diagnosis, care, research, and education related to rare diseases by reviewing literature from 2017 to 2023 and identifying effective models and strategies.
- The COVID-19 pandemic significantly boosted the adoption of telehealth, highlighting its ability to overcome geographical barriers and improve access to specialized care for rare disease patients.
- While telehealth presents several benefits, such as decentralized clinical research and enhanced education for local healthcare providers, it also has limitations, including challenges in performing physical exams and building personal relationships with healthcare professionals, thus suggesting it should complement traditional care rather than replace it.