Table 1.

Patient characteristics.

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7
SMN gene (exon 7, 8) copy number
SMN1	0, 0	0, 0	0, 1a	0, 0	0, 0	0, 0	0, 0
SMN2	2, 2	3, 3	2, 1	2, 2	2, 2	2, 2	2, 2
Age, years	10	17	7	11	21	14	5
Sex	F	F	F	M	F	F	F
Height, cm	131	140	120	125	151	123.5	102.6
Weight, kg	18.2	21.8	21	22.8	42	18.7	11.1
Patient's daily activity ability	Bedridden	Bedridden	Bedridden	Bedridden	Bedridden	Bedridden	Bedridden
Respiratory support	Tracheostomy, IPPV	NPPV	Tracheostomy, IPPV	Tracheostomy, IPPV	Tracheostomy, IPPV	Tracheostomy, IPPV	Tracheostomy, IPPV
Nutritional support	Gastrostoma	Oral ingestion	Gastrostoma	Gastrostoma	Gastrostoma	Gastrostoma	Gastrostoma
Strabismus present	No	No	Yes	Yes	No	Yes	No
Nystagmus present	Yes	No	No	Yes	No	No	No
Communication tool	Let's Chat®	Natural speech	Eye movement	Let's Chat®	Let's Chat® Tobii, fine motor	Let's Chat®	Eye movement
Cobb angle	75	140	NA	60	NA	95	42
CHOP-INTEND score	6	11	0	0	0	1	4

^aPatient 3 had one copy of exon 8 but no copies of exon 7 (where the stop codon is located), which indicates a deleted SMN1 gene.

CHOP-INTEND, Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders; IPPV, invasive positive pressure ventilation; NA, not applicable; NPPV, non-invasive positive pressure ventilation; SMN, survival motor neuron.