Table 1.

Demographic characteristics of the 272 rare disease patients. Impact of COVID-19 on non-COVID-related rare disease patients.

Characteristic		Number of patients (n = 272)
Sex	Male	111 (40.8%)
	Female	161 (59.2%)
Age group	0–2	2 (0.7%)
	2–10	49 (18.0%)
	11–20	16 (5.9%)
	21–40	90 (33.1%)
	41–64	98 (36.0%)
	≥65	17 (6.3%)
Rare disease category	Rare neurologic disease	149 (54.8%)
	Rare developmental defect during embryogenesis disease	37 (13.6%)
	Rare inborn errors of metabolism disease	32 (11.8%)
	Rare hematologic disease	16 (5.9%)
	Rare systemic or rheumatologic disease	12 (4.4%)
	Rare bone disease	6 (2.2%)
	Rare endocrine disease	5 (1.8%0
	Rare eye disease	4 (1.5%)
	Rare respiratory disease	4 (1.5%)
	Rare neoplastic disease	3 (1.1%)
	Rare skin disease	2 (0.7%)
	Rare cardiac disease	1 (0.4%)
	Rare otorhinolaryngologic disease	1 (0.4%)
Level of independence (Barthel Index for Activities of Daily Living)	Total dependency (score of 0–20)	33 (12.1%)
	Severe dependency (score of 21–60)	40 (14.7%)
	Moderate dependency (score of 61–90)	77 (28.3%)
	Slight dependency (score of 91–99)	24 (8.8%)
	Fully independent (score of 100)	98 (36.0%)
Type of disability	Physical disability	135 (49.6%)
	Visceral disability	39 (14.3%)
	Intellectual disability	34 (12.5%)
	Visual problems	32 (11.8%)
	Speech problems	31 (11.4%)
	Specific Learning Difficulties (SpLD)	23 (8.5%)
	Attention Deficit/Hyperactivity Disorder(ADHD)	18 (6.6%)
	Mental disorder/mood disorder	15 (5.5%)
	Autism	14 (5.1%)
	Hearing problems	10 (3.7%)
	No disability	58 (21.3%)
Main carer's role	Self-care	61 (22.4%)
	Relative living in the same household	154 (56.7%)
	Domestic helper	41 (15.1%)
	Caring home workers	9 (3.3%)
	Relative and friends not living in the same household	6 (2.2%)
	Others	1 (0.4%)