Table 2 Epilepsy and neuropsychiatric comorbidities of the two groups of patients (included if at least 5 individuals presented the specific feature) * Patient 9, 44 and 49 - experiencing only one to two seizures in their lifetime – are excluded from this range.

From: Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations

 

TSC1 patients

TSC2 patients

p value

Seizures

 Mean age at epilepsy onset (SD) [Months]

35.4 (25.8)

29.45 (66.3)

< 0.01

 Age range of epilepsy onset [Months]

1–96

1-276

NS

 Patients without seizures

11(35.5%)

14 (28%)

NS

 Infantile spasms

2 (6.4%)

16 (32%)

0.016

 Focal seizures

12 (38.7%)

15 (30%)

NS

 Focal seizures with impaired awareness

3 (9.6%)

8 (16%)

NS

 Generalized tonic-clonic seizures

6 (19.3%)

11 (22%)

NS

 Absence seizures

4 (12.9%)

4 (8%)

NS

 Hypertonic seizures

3 (9.6%)

5 (10%)

NS

 Seizure frequency (SD) [episodes per week]

10.4 (9.1)

18.3 (24.5)

NS (0.089)

 Range of seizures per week

1–28*

1–42*

NS

 Remission of Seizures [> 75% of reduction]

10 (50%)

13 (36.1%)

NS

 Partial/ good response (25 to 74.9% of reduction)

3 (15%)

10 (27.6%)

NS

 Drug resistant patients

7 (35%)

9 (25%)

NS

EEG findings

 Normal

11 (35.5%)

18 (36%)

NS

 Hypsarrhythmia

1 (3.2%)

5 (10%)

NS

 Bilateral spikes and waves pattern

7 (22.6%)

12 (24%)

NS

 Focal anomalies

8 (25.8%)

15 (30%)

NS

 Theta waves pattern

4 (12.9%)

6 (12%)

NS

Neuropsychiatric comorbidities

 Normal cognitive functions

16 (51.6%)

21 (42%)

NS

 Mild intellectual disability

6 (19.3%)

12 (24%)

NS

 Moderate intellectual disability

1 (3.2%)

5 (10%)

NS

 Severe intellectual disability

5 (16.1%)

12 (24%)

NS

 Patients without autism spectrum disorder

27 (87.1%)

44 (88%)

NS

 Autism level 1 and 2

4 (12.9%)

6 (12%)

NS

 No learning disability

19 (61.3%)

26 (52%)

NS

 Learning disability

12 (38.7%)

24 (48%)

NS

 Absence of behavior disorders

23 (74.2%)

35 (70%)

NS

 ADHD

3 (9.7%)

10 (20%)

NS

 Irritability and agitation

3 (9.7%)

5 (10%)

NS

 Oppositional disorder/Aggression

0

5 (10%)

NS

 Absence of sleep disorders

28 (90%)

48 (96%)

NS