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.
Our research shows that higher Bone Mineral Density (BMD) was associated with a greater risk of fracture, which is opposite of what we would expect. When we picked apart the BMD ratio we found that bone size had the strongest association with fracture risk, such that smaller bones had a greater risk.
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."
Children with cerebral palsy (CP) often grow poorly and assessment of growth in this population is further complicated by two main difficulties. Firstly, children may have joint contractures, muscular weakness, scoliosis, and/or involuntary movements that make standing or lying straight difficult, if not impossible.