Table 5 Clinical features of individuals with SHANK3 sequence variants, Class I deletions and Class II deletions

Total N

51

64

115

286

Gender

F 21 (41.2%), M 30

F 29 (45.3%), M 35

F 50 (43.5%), M 65

F 163 (57.0%), M 123

Age (mean ± SD)

11.47 ± 8.20

12.10 ± 9.45

11.82 ± 8.89

8.43 ± 8.56

Medical features

Kidney abnormalities^a

1/40 (2.5%)

2/50 (4.0%)

3/90 (3.3%)

80/232 (34.5%)

Lymphedema

1/39 (2.6%)

1/54 (1.9%)

2/93 (2.2%)

20/226 (8.8%)

Congenital heart disease^b

2/42 (4.8%)

2/53 (3.8%)

4/95 (4.2%)

42/241 (17.4%)

Recurrent infections^c

10/37 (27.0%)

10/49 (20.4%)

20/86 (23.3%)

86/223 (38.6%)

Abnormal brain imaging

10/38 (26.3%)

14/45 (31.1%)

24/83 (28.9%)

122/235 (51.9%)

GI abnormalities^d

27/41 (65.9%)

27/53 (50.9%)

54/94 (57.4%)

142/237 (59.9%)

Febrile seizures

6/42 (14.3%)

3/51 (5.9%)

9/93 (9.7%)

60/222 (27.0%)

Non-febrile seizures

14/41 (34.1%)

13/45 (28.9%)

27/86 (31.4%)

46/187 (24.6%)

Neonatal hypotonia

1/42 (2.4%)

9/54 (16.7%)

10/96 (10.4%)

112/255 (43.9%)

Feeding problems at birth

6/42 (14.3%)

8/54 (14.8%)

14/96 (14.6%)

125/255 (49.0%)

Hypotonia (diagnosis at any age)

27/40 (67.5%)

32/50 (64.0%)

59/90 (65.6%)

213/237 (89.9%)

Vision impairments

 Refractive errors^e

7/37 (18.9%)

9/51 (17.6%)

16/88 (18.2%)

54/229 (23.6%)

 Other visual problems^f

2/37 (5.4%)

5/51 (9.8%)

7/88 (8.0%)

36/229 (15.7%)

 Ocular abnormalities^g

6/37 (16.2%)

7/51 (13.7%)

13/88 (14.8%)

76/229 (33.2%)

Sensorineural hearing loss

0/37 (0%)

1/48 (2.1%)

1/85 (1.2%)

10/218 (4.6%)

Dysmorphic features

 Sacral dimple

5/33 (15.2%)

6/44 (13.6%)

11/77 (14.3%)

105/218 (48.2%)

 Large fleshy hands

3/28 (10.7%)

5/38 (13.2%)

8/66 (12.1%)

143/232 (61.6%)

 Dysplastic or unusual fingernails

2/28 (7.1%)

5/38 (13.2%)

7/66 (10.6%)

72/232 (31.0%)

 Dysplastic or unusual toenails

10/28 (35.7%)

12/38 (31.6%)

22/66 (33.3%)

139/232 (59.9%)

 Supernumerary teeth

0/29 (0%)

2/34 (5.9%)

2/63 (3.2%)

16/116 (13.8%)

Spine abnormalities^h

3/35 (8.6%)

6/53 (11.3%)

9/88 (10.2%)

35/237 (14.8%)

Torticollis

1/35 (2.9%)

3/53 (5.7%)

4/88 (4.5%)

27/237 (11.4%)

Thyroid dysfunctionⁱ

2/39 (5.1%)

3/58 (5.2%)

5/97 (5.2%)

9/247 (3.6%)

Too tall for age (> 95th percentile)

3/25 (12.0%)

3/38 (7.9%)

6/63 (9.5%)

57/164 (34.8%)

Too short for age (< 5th percentile)

7/25 (28.0%)

6/38 (15.8%)

13/63 (20.6%)

13/164 (7.9%)

Sleep disturbances

38/46 (82.6%)

45/58 (77.6%)

83/104 (79.8%)

176/254 (69.3%)

Psychiatric disorders

ASD^j

31/42 (73.8%)

31/47 (66.0%)

62/89 (69.7%)

72/159 (45.3%)

ADHD^j

10/43 (23.3%)

14/48 (29.2%)

24/91 (26.4%)

18/176 (10.2%)

Depression^k

3/35 (8.6%)

5/38 (13.2%)

8/73 (11.0%)

3/127 (2.4%)

Bipolar disorder^k

5/35 (14.3%)

10/38 (26.3%)

15/73 (20.5%)

6/127 (4.7%)

Anxiety disorder^k

8/35 (22.9%)

13/38 (34.2%)

21/73 (28.8%)

13/127 (10.2%)

Obsessive compulsive disorder^k

3/35 (8.6%)

8/38 (21.1%)

11/73 (15.1%)

10/127 (7.9%)

Schizophrenia^k

0/35 (0%)

0/38 (0%)

0/73 (0%)

2/127 (1.6%)

Neurodevelopment

Verbal speech (if > 2 years)^l

12/29 (41.4%)

25/47 (53.2%)

37/76 (48.7%)

32/170 (18.8%)

Able to dress without assistance^m

 Always

4/27 (14.8%)

6/42 (14.3%)

10/69 (14.5%)

9/130 (6.9%)

 Sometimes

4/27 (14.8%)

19/42 (45.2%)

23/69 (33.3%)

17/130 (13.1%)

Able to toilet independently (daytime)^m

 Always

3/27 (11.1%)

19/43 (44.2%)

22/70 (31.4%)

9/130 (6.9%)

 Sometimes

5/27 (18.5%)

6/43 (14.0%)

11/70 (15.7%)

19/130 (14.6%)

Coordination difficulties

 Always

11/32 (34.4%)

16/50 (32.0%)

27/82 (32.9%)

105/206 (51.0%)

 Sometimes

19/32 (59.4%)

30/50 (60.0%)

49/82 (59.8%)

86/206 (41.7%)