SMC1A Community Needs: Target areas for SMC1A research.
Is the Patient diagnosed with the SMC1A mutation?
Answer | Count | Percent |
|
Yes | 66 | 98.51% |
|
Other (please specify here) | 1 | 1.49% |
|
---|---|---|---|---|---|---|---|---|
Total | 67 | 100 % |
Is the Patient diagnosed with the SMC1A mutation? - Text Data for Other (please specify here)
03/07/2022 | 67554703 | SMC |
Has the Patient ever had Seizure(s)?
Answer | Count | Percent |
|
Yes | 60 | 89.55% |
|
No | 5 | 7.46% |
|
Not Sure | 2 | 2.99% |
|
---|---|---|---|---|---|---|---|---|
Total | 67 | 100 % |
Has the Patient ever had Seizure(s)? - Text Data for Other (please specify here)
If yes, are the Seizures difficult to control?
Answer | Count | Percent |
|
Yes | 57 | 85.07% |
|
Not Sure | 3 | 4.48% |
|
Doesn't Apply (no seizures) | 5 | 7.46% |
|
Other (please specify here) | 2 | 2.99% |
|
---|---|---|---|---|---|---|---|---|
Total | 67 | 100 % |
If yes, are the Seizures difficult to control? - Text Data for Other (please specify here)
05/11/2023 | 103416447 | Currently no seizures |
02/02/2022 | 65498951 | Amanda is seizure free for six weeks then she has cluster seizures about 1-5 in a seven day period. |
What is the Patient Gender?
Answer | Count | Percent |
|
Female | 67 | 100% |
|
|
---|---|---|---|---|---|---|---|---|
Total | 67 | 100 % |
What is the Patient Gender? - Text Data for Other (please specify here)
Which Medical target areas are the most important for you to treat to improve your child’s quality of life? Select up to 3.
Answer | Count | Percent |
|
Mobility and Motor Control | 43 | 26.38% |
|
Balance Issues | 25 | 15.34% |
|
GI Issues | 10 | 6.13% |
|
Hearing/Vision Problems | 5 | 3.07% |
|
Feeding Problems and G-tube | 9 | 5.52% |
|
Epilepsy and Seizures | 59 | 36.2% |
|
Frequent Infections | 4 | 2.45% |
|
Frequent Common Colds | 3 | 1.84% |
|
Other (please specify here) | 5 | 3.07% |
|
---|---|---|---|---|---|---|---|---|
Total | 163 | 100 % |
Which Medical target areas are the most important for you to treat to improve your child’s quality of life? Select up to 3. - Text Data for Other (please specify here)
03/14/2023 | 100221442 | slaap |
04/18/2022 | 71985182 | Retard acquisitions physiques et langage |
02/02/2022 | 65507032 | Independence with ADL's |
12/10/2021 | 61028720 | low muscle tone |
11/30/2021 | 60140984 | coordination |