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Table 8 Neuropsychological characteristics and adult life skills

From: A Natural History Study of Timothy Syndrome

 

TS1

Gly406Arg

yes/total (%) n = 30

TS2

Gly406Arg

yes/total (%) n = 11

Gly402Ser

yes/total (%)

n = 6

Diagnosed nsLQT8

yes/total (%) n = 12

Other

yes/total (%) n = 28

Correlation p-value

Neurodevelopmental concerns

Sspeech concerns

18/30 (60)

18/26 (69)

6/10 (60)

6/9 (67)

5/6 (83)

5/6 (83)

4/11 (36)

4/10 (40)

23/27 (85)

17/18 (94)

0.0314

0.0257

 Speech delay

18/26 (69)

6/9 (67)

2/6 (33)

3/10 (30)

15/17 (88)

 

 Receptive delay

10/20 (50)

5/7 (71)

2/6 (33)

---

5/17 (29)

 

 Expressive delay

13/20 (65)

5/7 (71)

2/6 (33)

2/4 (50)

12/17 (71)

 

 Odd sounds

5/25 (20)

2/8 (25)

2/6 (33)

1/4 (25)

9/17 (53)

 

Educational

      

 Global developmental delay

0/30 (0)

2/10 (20)

0/6 (0)

---

4/5 (80)

 

 Knows alphabet

13/17 (76)

1/4 (25)

6/6 (100)

12/12 (100)

9/20 (45)

 

 Age when spoke full sentences (yrs)

2.5–5

2.5–7

1–4

0–3.5

1.5–6

 

 At grade level

 Learning concerns:

5/17 (29)

11/16 (69)

0/5 (0)

4/4 (100)

0/1 (0)

4/6 (67)

9/11 (82)

4/9 (44)

3/15 (20)

12/15 (80)

 

  Problems reading

12/16 (75)

1/4 (25)

3/6 (50)

2/9 (22)

12/15 (80)

 

  Problems with numbers

10/15 (67)

4/4 (100)

3/6 (50)

4/9 (44)

10/15 (67)

 

 Accurate memory

8/18 (44)

1/4 (25)

1/4 (25)

2/9 (22)

2/15 (13)

 

 Delayed potty training (> 4yrs)

10/20 (50)

7/8 (86)

2/4 (50)

2/7 (29)

2/7 (29)

 

 Delayed night training (> 5yrs)

7/17 (41)

7/7 (100)

1/4 (25)

4/10 (40)

---

 

Social ability

      

 Not tested

13/19 (68)

1/5 (20)

3/6 (22)

---

---

 

 Autism

6/12 (50)

4/9 (44)

1/3 (33)

2/8 (25)

8/14 (57)

0.6873

 ADD/ADHD

5/11 (45)

5/9 (56)

3/5 (60)

1/8 (13)

4/14 (29)

0.2840

 Shy/anxious

14/24 (58)

4/7 (57)

5/6 (83)

2/10 (2)

7/19 (37)

 

 Odd behaviors

13/23 (57)

4/5 (80)

1/4 (25)

2/10 (2)

6/19 (32)

 

 Plays with age group

12/23 (52)

2/4 (50)

1/4 (25)

6/10 (60)

8/19 (42)

 

 Prefers being alone

11/21 (52)

2/4 (50)

2/6 (33)

5/10 (50)

6/19 (32)

 

 Prefers quiet environment

14/21 (67)

3/5 (60)

2/6 (33)

3/10 (30)

7/19 (37)

 

 Prefers animals

8/19 (42)

1/5 (25)

0/6 (0)

3/10 (30)

4/19 (21)

 

Other neural development

18/24 (75)

6/9 (67)

6/6 (100)

8/11 (73)

15/22 (68)

0.6462

 Routine oriented

17/22 (77)

5/5 (100)

4/6 (67)

5/10 (50)

9/19 (47)

 

 Orders objects

9/23 (39)

1/3 (33)

1/4 (25)

 

6/19 (32)

 

 Seizure disorder

10/30 (33)

5/7 (71)

0/6 (0)

1/11 (9)

11/22 (50)

 

 Has phobias

9/24 (38)

0/4 (0)

0/6 (0)

2/8 (25)

1/14 (7)

 

 Anger/violence

11/23 (48)

2/5 (40)

2/6 (33)

1/8 (13)

4/14 (29)

 

 Depression

1/6 (17)

---

0/6 (0)

2/8 (25)

2/14 (14)

 

 OCD

4/19 (21)

---

1/6 (17)

2/8 (25)

3/14 (21)

 

 Schizophrenia

1/19 (5)

---

1/6 (17)

0/8 (0)

0/14 (0)

 

 Severe headaches

2/10 (11)

0/2 (0)

2/6 (33)

1/8 (13)

1/14 (7)

 

Adult life skills

      

 Rides bus alone

2/6 (33)

---

---

6/6 (100)

---

 

 Has driver’s license

1/6 (17)

---

---

6/6 (100)

---

 

 Makes monetary change

1/6 (17)

---

---

6/6 (100)

---

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