Table 2.

Clinical features in adult MALNS and SS cohorts

Clinical feature	MALNS—N = 28 (%)	SS—N = 44 (%) [9]	P value
Normal intellectual development	Not reported	8/44 (18%)	0.00194
Behavior anomalies	23/28 (82%)	9/44 (20%)	0.00001
Low BMI	6/28 (21%)	Not reported	0.0024
Slender habitus *	46/78 (59%) *	Not reported	0.00001
Visual problems ONH or ONA	26/28 (96%) 9/28 (33%)	2 (sporadic)#	0.0005
Cardiac involvement Aortic dilatation	8/28 (30%) 3/28 (11%)	20%^ 4/44 (9%)	n.s n.s
Scoliosis Requiring surgery	18/28 (64%) 8/18 (44%)	24/44 (55%) 11/24 (46%)	n.s n.s
Tremors	6/28 (21%)	3/44 (7%)	n.s

P value: Chi-square’s test in 2 × 2 contingency tables (Fisher’s exact test); *from [5] and this study; ^#two sporadic adult individuals reported in the literature [21, 22]; ^from [23] general SS population; ONH: optic nerve hypoplasia, ONA: Optic nerve atrophy, n.s.: not significant