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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