SMC1A related Seizures and Puberty
[Q1] What age did the Patient show first signs of puberty? (typical signs are breast development, body odor, pubic hair).
| Answer | Count | Percent |
|
2-3 years | 1 | 8.33% |
|
4-5 years | 1 | 8.33% |
|
6-7 years | 1 | 8.33% |
|
8-9 years | 2 | 16.67% |
|
10-11 years | 4 | 33.33% |
|
12-13 years | 2 | 16.67% |
|
14-16 years | 1 | 8.33% |
|
16+ | 0 | 0% |
|
Not Sure | 0 | 0% |
|
The Patient is 13+ years and shows no signs of puberty | 0 | 0% |
|
Other | 0 | 0% |
|
|---|---|---|---|---|---|---|---|---|
| Total | 12 | 100 % |
What age did the Patient show first signs of puberty? (typical signs are breast development, body odor, pubic hair). - Text Data for Other
[Q3] Did the Patient have increase in seizures when started to show first signs of Puberty? (either at time, early or late puberty)
| Answer | Count | Percent |
|
Yes | 8 | 66.67% |
|
No | 0 | 0% |
|
Some increase, not significant | 1 | 8.33% |
|
Not Sure | 3 | 25% |
|
Other | 0 | 0% |
|
|---|---|---|---|---|---|---|---|---|
| Total | 12 | 100 % |
Did the Patient have increase in seizures when started to show first signs of Puberty? (either at time, early or late puberty) - Text Data for Other
[Q7] If the Patient had precocious puberty (signs of puberty before the age of 8) did you choose to delay?
| Answer | Count | Percent |
|
Yes, chose to delay | 2 | 50% |
|
No, let it progress | 2 | 50% |
|
Not Sure | 0 | 0% |
|
Other | 0 | 0% |
|
|---|---|---|---|---|---|---|---|---|
| Total | 4 | 100 % |
If the Patient had precocious puberty (signs of puberty before the age of 8) did you choose to delay? - Text Data for Other
[Q12] If the Patient had precocious puberty and increase in seizures, and you chose to delay the puberty, did delaying provide better seizure control?
| Answer | Count | Percent |
|
Yes | 1 | 50% |
|
No | 0 | 0% |
|
Some but not significant | 0 | 0% |
|
Not Sure | 1 | 50% |
|
Other | 0 | 0% |
|
|---|---|---|---|---|---|---|---|---|
| Total | 2 | 100 % |
If the Patient had precocious puberty and increase in seizures, and you chose to delay the puberty, did delaying provide better seizure control? - Text Data for Other
[Q12] If the seizures increased when first signs of puberty appeared, what was helpful to control seizures?
| Answer | Count | Percent |
|
Increase in base AEDs | 1 | 9.09% |
|
Change in base AEDs | 2 | 18.18% |
|
Increase in base AEDs and adding a new AED(s) | 0 | 0% |
|
Nothing improved seizures | 7 | 63.64% |
|
Low dose estrogen | 0 | 0% |
|
Low dose progesterone | 1 | 9.09% |
|
Other | 0 | 0% |
|
|---|---|---|---|---|---|---|---|---|
| Total | 11 | 100 % |
If the seizures increased when first signs of puberty appeared, what was helpful to control seizures? - Text Data for Other
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