Table 4.
TAND Features by Genotype*
| 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 |
ASD autism spectrum disorder, ADHD attention deficit hyperactivity disorder, ID intellectual disability, IQ intelligence quotient, TAND TSC-associated neuropsychiatric disorders
*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
aPercentages calculated considering only available data and excluding missing data unless otherwise specified
bPercentages calculated considering individuals with IQ assessment available in each group: Individuals with TSC1 mutation, n = 93; individuals with TSC2 mutation, n = 293)
cPercentages calculated based on the number of individuals with reported academic difficulties as denominator
dPercentages calculated based on the number of individuals who had neuropsychological skill assessed as denominator
eTSC1 vs TSC2
fChi-square test showing association between children and adults across all levels of IQ