Table 2 (SR question 1). Studies describing the organisational changes adopted in the provision of healthcare services for the care of people living with rare neurological diseases and with neurometabolic disorders in Europe during the COVID-19 pandemic

Data on patients affected by PKU in Italy were collected retrospectively from April 2019 to March 2021 [15]

Follow-up (metabolic management) for both adult and pediatric PKU patients. Before COVID-19 pandemic home monitoring of DBS samplings and on-site visits were performed.

Implementation of slots for video-consultations.

Implementation of the composition of the multidisciplinary team (supplemental dietician).

Access to the clinic via new service of self-booking online.

Activation of tele-visiting: video consultations and long-phone-calls.

Activation of a delivery service system directly to the patients’ pharmacies, with the support of the companies that produced medical foods.

Telehealth is more effective in reaching patients who struggle to adhere to the clinic’s face-to-face appointments (working PKU patients).

Data on PKU pediatric patients in Poland collected via a survey in the time of Summer 2020 [16]

Follow-up (metabolic management): communication with doctor/dietician; access to special food. Self-reported blood Phe levels.

Increase of telehealth for contacting the PKU specialist.

Better therapy compliance, more frequent contacts with PKU specialists, and more satisfaction with remote visits.

Rare inherited metabolic disorders and rare autoinflammatory diseases. Data collected by survey. (Adult and pediatric patients in Poland) [17].

Outpatient clinics (ambulatory visits; treatment administration).

Implementation of remote visits as an alternative for regular ambulatory visits (face-to-face).

Despite in Poland most hospital managed to maintain the regularity of visits during the COVID-19 pandemic, wider implementation of remote visits and switch to oral therapy or home infusions would be a good solution to improve patients’ health status.

Cerebellar Ataxia patients. International and European neurologist experts’ guidelines [18].

Closure of ambulatory visits.

Ambulatory care services have dramatically decreased.

Virtual video-assisted platforms performing neurology tele-visit (overall mental state, selected eye movements, speech, examination of hyperkinetic movement disorders, ataxia, dexterity, gait).

Home-based therapy based on online video tutorials for physical therapy, balance therapy and speech therapy.

Behavioral therapists, psychologists, and psychiatrist virtual visits.

Telemedicine has emerged as a principle means of caregiver-patient contact.