Table 3 (SR question 2). Studies principally focusing on the measures that were implemented during the COVID-19 pandemic for the mitigation of disruption or discontinuity of the care of people living with rare neurological diseases and with neurometabolic disorders in Europe

Data on patients affected by Lysosomal disorders (LSD), rare monogenic inherited metabolic disorders were collected from March to June 2020 [19]

Home enzyme replacement treatment ERT infusions interruption (duration of 12 weeks) during the first phase of COVID-19 pandemic. In one year (2020) planned annual review investigations.

Telephone or video consultations.

Remote consultations for outpatient appointments.

Remote referrals for 1st appointments; remote transition care.

Face-to-face urgent reviews.

Improved patient compliance; reduction of clinic non-attendance; improved collaboration with the GP and local hospitals for regular monitoring.

A hybrid model with face-to-face clinics, virtual nurse and doctor-led clinics engagement with local services.

Data of patients with rare neurological diseases, including Ataxia patients were collected from March to September 2020 in Italy [20]

Interruption of planned neurological visits during 2020.

Implementation of a teleconsultation and telemonitoring system.

Televisit performed via individual Teams teleconference connection for each patient follow-up (neurological visits for adults and children, neurosurgical visits, genetic counselling services).

Tele-neurorehabilitation delivered to children (RIDInet, with Reading Trainer app; RIDInet with Speech app; Teams).

Remote neuropsychological tests for adults.

Other telemedicine services provided (clinical multidisciplinary and multidimensional assessment, psychological consultation or support, learning, language and speech rehabilitation, neurofunctional Telemonitoring, and parent coaching).

Telehealth in Italy had limited application in neurological practice until the COVID-19 pandemic mainly because of lack of formal regulations and of recognition as a reimbursable medical service in the NHS. Telehealth was very well received by doctors and also by other healthcare personnel. Telemedicine cold be a valuable tool in particular, for neurological patients needing tertiary neuro-care and living far away from hospital, with motor disability making it difficult to go to hospital, who maintain job activities, or who need frequent monitoring. There are still limitations in the use, for instance the first visits cannot be provided by Telehealth, and the Televisit can be used only for the follow-up of patients with an already diagnosed condition and with well-defined care pathways or needs.

Data on pediatric patients affected by rare neurological diseases, and other complex chronic conditions were collected prospectively in Italy [21].

Ambulatory outpatient visits

Teleconsultations

Design and implementation of an organizational model for telehealth in pediatrics based on three different packages of telemedicine which could be activated according to the medical needs of the patients. Level 1: teleconsultation basic follow-up services performed by videocalls. Level 2: intermediate telemonitoring service including multi-specialist and multi-disciplinary tele-visits; video tutorial dedicated to the parents and caregivers; remote monitoring with specific devices. Level 3: tele-intervention; remote monitoring with specific devices; alert-system active 24/7.

The model facilitated the communication and maintaining standards of care with patients and their caregivers.

Data of Turkey PKU patients retrospectively collected during November 2019/March 2020 vs. March/June 2020 [22].

Interruption of regular outpatient’s clinic services (blood Phe monitoring and assessment of nutritional treatments according to blood Phe levels).

Telemedicine system including: a dedicated e-mail address, teleconference, dedicated phone line; online training meeting on the usage of telemedicine tools.

Online telemedicine platform: phone calls and online communication were recommended to ensure the continuity of follow-up and treatment of PKU patients.

An online and personalized monitoring system can be effective in achieving metabolic control of PKU patients during the COVID-19 pandemic. It has been preferred by both clinicians and patients especially for the follow-up. Finally, telemedicine can facilitate adaptation process and compliance of patients and families to treatment and follow-up in PKU after the pandemic.

Data on patients with movement disorders including Dystonia in Turkey were collected retrospectively from March to June 2020 [23].

Interruption of outpatient services.

Remote communication between the Movement Disorders Unit and the patients by means of phone call, e-mails and chatting via WhatsApp.

Legal barriers in Turkey still exist that do not allow to use video calls with patients.

Despite the limitations, the system allowed clinicians to prevent deterioration of health condition of the patients.

Data on patients with Ataxia in Germany were prospectively collected in 2020 [24].

Impairment in the assessment of Ataxia; interruption of observational and interventional trials.

Video-based system. Performed with any tablet or smartphone and no specific hardware or an examiner needed. A dedicated app was developed to be downloaded by the patients.

Video-based assessment of Ataxia to be done independently of the presence of an examiner applied by the patients themselves at home (Scale for the Assessment and rating of Ataxia - SARA^home).

SARA^home may partly substitute for a conventional SARA assessment in hospitals or research institutions, for example, between scheduled study visits or in situations where the face-to-face visits are not possible to be managed.