In 10% to 15% of cases, there is no clear cause of CP. There is increasing recognition that genetics plays a part, but no standardized approach to genetic testing in patients with CP exists. In this study we asked the question whether both people with and without known risk factors for CP should have genetic testing.
The purpose of this study is to explore the breast cancer screening experiences of women with CP with the aim of identifying factors that could improve screening rates for women with disabilities.
Cohort-based whole exome and whole genome sequencing and copy number variant (CNV) studies have identified genetic etiologies for a sizable proportion of patients with cerebral palsy (CP). These findings indicate that genetic mutations collectively comprise an important cause of CP.
"In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases."
For women with Cerebral Palsy, self-advocacy is probably the most important part, but it's also probably the hardest part because most of those doctors have not encountered women with disabilities. You really have to tell them what you need and tell them what to expect.
When scheduling and preparing for an OB/GYN appointment, women with Cerebral Palsy have additional challenges to consider and address when both scheduling the appointment and once they go their appointment.
It is recommended that women start having mammography screenings starting at about the age of 40, and it becomes more difficult to obtain these services if you have a disability.
The findings of this article demonstrate the need for improved screening rates in women with CP, and highlight areas for improving their screening experience.
As 20% of women with CP surveyed experienced pregnancy, there is a need to increase awareness, education, support, and advocacy for achievement of optimal reproductive health.