Traditionally, medical care and research in Parkinson’s disease (PD) have been conducted through in-person visit. The recent Coronavirus Disease 2019 (COVID-19) pandemic has profoundly impacted the delivery of in-person clinical care. We conducted an online survey to investigate the impact of COVID-19 on access to telehealth care, interviewing both PD patients and neurologists. Survey responses were collected from 1 March to 31 May 2021 through an anonymous, self-reported questionnaire, on the ‘Qualtrics’ platform. In total, 197 patients and 42 neurologists completed the survey. In our sample, 37.56% of PD patients and 88.10% of neurologists reported having used alternatives to in-person visits, while 13.70% of PD patients and 40.48% of neurologists used telemedicine. Data showed that respondents were generally satisfied with the use of telemedicine during the COVID-19 pandemic. The relational dimension between patient and neurologist seems to be the factor that most positively affected the telemedicine experience, contributing greatly to a more patient-centred care. Current findings suggest the need to improve the access to telehealth services for patients with PD. The technology has the potential to improve the care of frail patients, especially when availability of face-to-face visits is limited.
Objective This study aimed to evaluate the experience with telemedicine in patients with cognitive impairments and their caregivers. Methods We conducted a survey-based study of patients who completed neurological consultation via video link between January and April 2022. Results A total of 62 eligible neurological video consultations were conducted for the following categories of patients: Alzheimer’s disease (33.87%), amnesic mild cognitive impairment (24.19%), frontotemporal dementia (17.74%), Lewy body dementia (4.84%), mixed dementia (3.23%), subjective memory disorders (12.90%), non-amnesic mild cognitive impairment (1.61%), and multiple system atrophy (1.61%). The survey was successfully completed by 87.10% of the caregivers and directly by the patients in 12.90% of cases. Our data showed positive feedback regarding the telemedicine experience; both caregivers and patients reported that they found neurological video consultation useful (caregivers: 87.04%, ‘very useful’; patients: 87.50%, ‘very useful’) and were satisfied overall (caregivers: 90.74%, ‘very satisfied’; patients: 100%, ‘very satisfied’). Finally, all caregivers (100%) agreed that neurological video consultation was a useful tool to reduce their burden (Visual Analogue Scale mean ± SD: 8.56 ± 0.69). Conclusions Telemedicine is well received by patients and their caregivers. However, successful delivery incorporates support from staff and care partners to navigate technologies. The exclusion of older adults with cognitive impairment in developing telemedicine systems may further exacerbate access to care in this population. Adapting technologies to the needs of patients and their caregivers is critical for the advancement of accessible dementia care through telemedicine.
Developmental and epileptic encephalopathy 45 (DEE45) is a neurogenetic disorder caused by heterozygous pathogenic variants of GABRB1, encoding the beta1 subunit of the GABA type A receptor. Only three infants with DEE45 have been reported so far, and a detailed description of the disease history of these patients is still lacking. We describe the clinical and genetic findings of a 21‐year‐old woman with DEE45 carrying a novel de novo GABRB1 mutation (c.841A>G, p.T281A). The patient presented at birth with hypotonia and focal apneic seizures evolving in a phenotype of epilepsy of infancy with migrating focal seizures that were refractory to antiseizure medications. Epileptic spasms partially responsive to steroid therapy appeared in the second year of life. Acquired microcephaly, profound mental retardation, and tetraparesis became evident with development. During childhood and adolescence, the epileptic phenotype evolved toward a Lennox–Gastaut Syndrome. Atypical absence status and clusters of tonic seizures occurred, often triggered by respiratory infections. The main strengths of this work are the identification of a novel pathogenic GABRB1 variant localized in the same transmembrane domain of a previously described mutation and the detailed description of the clinical trajectory of GABRB1‐related encephalopathy along 21 years of disease history.
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