SMC1A Community Needs: Target areas for SMC1A research.
Is the Patient diagnosed with the SMC1A mutation?
Answer Count Percent
20% 40% 60% 80% 100%
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
20% 40% 60% 80% 100%
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
20% 40% 60% 80% 100%
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
20% 40% 60% 80% 100%
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
20% 40% 60% 80% 100%
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