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Table 4 TAND Features by Genotype*

From: TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

TAND Features

Individuals With TSC1 Mutation

(n = 197)

n (%)a

Individuals With TSC2 Mutation,

(n = 644)

n (%)a

Individuals With no TSC Mutation Identified (NMI),

(n = 144)

n (%)a

Statistical difference between TSC1 and TSC2

p Valuee

Behavioural level

  

 Overactivity

27 (40.9)

112 (43.4)

24 (45.3)

0.8788

 Sleep difficulties

31 (48.4)

129 (50.6)

30 (54.5)

0.5656

 Impulsivity

32 (49.2)

107 (41.6)

23 (45.1)

0.1773

 Anxiety

24 (38.7)

82 (33.6)

17 (34.0)

0.5519

 Mood swings

14 (21.5)

64 (26.6)

15 (29.4)

0.4907

 Severe aggression

14 (21.2)

56 (21.5)

11 (20.8)

0.9290

 Depression mood

15 (24.2)

46 (18.7)

12 (23.5)

0.2651

 Self-injury

4 (6.3)

41 (15.8)

8 (14.5)

0.0288

 Obsessions

8 (13.1)

35 (14.2)

8 (16.0)

0.9140

 Hallucinations

3 (4.8)

7 (2.8)

2 (3.9)

0.3960

 Psychosis

4 (6.5)

9 (3.6)

3 (5.8)

0.2865

Psychiatric level

 ASD

18 (12.2)

138 (28.6)

17 (17.5)

< 0.0001

 ADHD

24 (17.6)

72 (16.0)

14 (14.9)

0.6881

 Anxiety disorder

14 (10.1)

38 (8.6)

8 (9.2)

0.7809

 Depressive disorder

14 (10.0)

23 (5.2)

7 (8.0)

0.0509

Intellectual levelb

  

 Normal IQ

62 (66.7)

123 (42.0)

41 (64.1)

 

 Mild ID

15 (16.1)

75 (25.6)

14 (21.9)

 

 Moderate ID

11 (11.8)

57 (19.5)

3 (4.7)

0.001f

 Severe ID

5 (5.4)

30 (10.2)

6 (9.4)

 

 Profound ID

0

8 (2.7)

0

 

Academic level

 Individuals ever had difficulties in academic performance

63 (49.2)

240 (63.5)

53 (58.2)

0.0051

 Individuals assessed for academic difficulties

34 (54.0)c

132 (55.0)c

25 (47.2)c

0.5391

Neuropsychological level

  

 Individuals ever had any neuropsychological skill assessed

67 (51.1)

216 (49.4)

46 (51.1)

0.7697

 Individuals with performance <5th percentile

26 (38.8)d

136 (63.0)d

19 (41.3)d

0.0024

  1. ASD autism spectrum disorder, ADHD attention deficit hyperactivity disorder, ID intellectual disability, IQ intelligence quotient, TAND TSC-associated neuropsychiatric disorders
  2. *Molecular testing for genetic mutations was performed in 1000 (45.1%) individuals. Of these, 644 (64.4%) had a TSC2 gene mutation, 197 (19.7%) had a TSC1 gene mutation, 6 had both TSC1 and TSC2 gene mutations and 144 (14.4%) had no mutations. Data were not available for 9 individuals
  3. aPercentages calculated considering only available data and excluding missing data unless otherwise specified
  4. bPercentages calculated considering individuals with IQ assessment available in each group: Individuals with TSC1 mutation, n = 93; individuals with TSC2 mutation, n = 293)
  5. cPercentages calculated based on the number of individuals with reported academic difficulties as denominator
  6. dPercentages calculated based on the number of individuals who had neuropsychological skill assessed as denominator
  7. eTSC1 vs TSC2
  8. fChi-square test showing association between children and adults across all levels of IQ
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172