Table 1.
Responses collected from the HCPs survey
| Category | n (%) |
|---|---|
| Group of IMD patients followed at the centre | |
| Adult | 8/73 (11) |
| Paediatric | 18/73 (24.7) |
| Both | 47/73 (64.4) |
| Paediatric patients infected with SARS-CoV-2 (confirmed by testing) in the centre | |
| Yes | 5/73 (6.9) |
| No | 62/73 (84.9) |
| Do not know | 6/73 (8.2) |
| Total number of paediatric reported cases | 13 |
| Symptoms of paediatric patients positive for COVID-19 | |
| At diagnosis | |
| Asymptomatic | 1/13 (8) |
| Mild | 12/13 (92) |
| Severe | 0/13 (0) |
| Do not know | 0/13 (0) |
| During the infection | |
| Asymptomatic | 1/13 (8) |
| Mild | 12/13 (92) |
| Severe with need of hospitalisation | 0/13 (0) |
| Required intensive care | 0/13 (0) |
| Adult patients infected with SARS-CoV-2 (confirmed by testing) in the centre | |
| Yes | 7/73 (9.6) |
| No | 54/73 (74) |
| Do not know | 12/73 (16.4) |
| Total number of adult reported cases | 11 |
| Symptoms of adult patients positive for COVID-19 | |
| At diagnosis | |
| Asymptomatic | 0/11 (0) |
| Mild | 10/11 (91) |
| Severe | 1/11 (9) |
| Do not know | 0/11 (0) |
| During the infection | |
| Asymptomatic | 0/11 (0) |
| Mild | 9/11 (82) |
| Severe with need of hospitalisation | 2/11 (18) |
| Required intensive care | 0/11 (0) |
| Casualties due to COVID-19 among IMD patients | |
| Yes | 0/73 (0) |
| No | 64/73 (87.7) |
| Do not know | 9/73 (12.3) |
| Change needed in the management of IMD patients | |
| Yes | 66/73 (90.4) |
| No | 7/73 (9.6) |
| Change needed in the therapy regime of IMD patients with no COVID-19* | |
| Yes, the frequency of therapy has been reduced | 19/73 (26) |
| Yes, the therapy has been stopped | 3/73 (4.1) |
| Yes, the frequency of rehabilitation has been reduced | 12/73 (16.4) |
| Yes, rehabilitation has been stopped | 15/73 (20.6) |
| Only for some specific cases | 14/73 (19.2) |
| No | 26/73 (35.6) |
| Changes in therapeutic regimes unified at national or regional level | |
| Yes | 25/45 (55.6) |
| No | 20/45 (44.4) |
| Proportion of missed outpatient visit for IMD at the centre | |
| 0–25% | 5/73 (6.9) |
| 25–50% | 3/73 (4.1) |
| 50–75% | 20/73 (27.4) |
| 75–100% | 40/73 (54.8) |
| Not applicable | 5/73 (6.9) |
| Outpatient face-to-face visits replaced by video conference/telephone interaction | |
| Yes | 66/73 (90.4) |
| No | 4/73 (5.5) |
| Not applicable | 3/73 (4.1) |
| Patients stopped treatment by their own decision | |
| Yes | 10/73 (13.7) |
| No | 57/73 (78.1) |
| Do not know | 6/73 (8.2) |
| Disease categories expected to be at major risk in relation to COVID-19* | |
| AOA | 42/73 (57.5) |
| PM-MD | 41/73 (56.2) |
| C-FAO | 33/73 (45.2) |
| LSD | 38/73 (52) |
| PD | 14/73 (19.2) |
| CDG | 18/73 (24.7) |
| NOMS | 9/73 (12.3) |
| Awareness of good-quality informative material about COVID-19 and IMD | |
| Yes | 26/73 (35.6) |
| No | 33/73 (45.2) |
| Do not know | 14/73 (19.2) |
| Centre produced informative material about COVID-19 and IMD | |
| Yes | 27/73 (37) |
| No | 42/73 (57.5) |
| Do not know | 4/73 (5.5) |
| Centre offering special informative/psychological support to IMD patients during the pandemic | |
| Yes | 43/73 (58.9) |
| No | 24/73 (32.9) |
| Do not know | 6/73 (8.2) |
| PO helping HCP in providing special support during the pandemic | |
| Yes | 42/73 (57.5) |
| No | 21/73 (28.8) |
| Do not know | 10/73 (13.7) |
| Active COVID-19 helpline for IMD patients in the centre | |
| Yes | 38/73 (52.1) |
| No | 32/73 (43.8) |
| Do not know | 3/73 (4.1) |
| Patients prone to metabolic crises have the same open access to hospital as before the COVID-19 outbreak | |
| Yes | 49/73 (67.1) |
| No | 18/73 (24.7) |
| Do not know | 6/73 (8.2) |
*More than one answer possible
AOA, amino and organic acids-related disorders; PM-MD, disorder of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism; C-FAO, carbohydrate, fatty acid oxidation and ketone bodies disorders; LSD, lysosomal storage disorders; PD, peroxisomal disorders; CDG, congenital disorders of glycosylation and disorders of intracellular trafficking; NOMS, disorders of neuromodulators and other small molecules