Researchers at Geisinger Health System have found that genetic abnormalities may be the cause for the majority of cerebral palsy (CP) cases, a group of disorders that can involve the brain and nervous system functions, such as seeing, movement, hearing, thinking, and learning, rather than a difficult birth or other perinatal factors. CP is the most prevalent physical disability of childhood. The study is published in The Lancet Neurology.
According to the researchers, CP may be caused by several genetic factors, similar to other neurodevelopmental disorders, such as intellectual disability and autism. The study suggests children present with CP and CP-like conditions should be considered for genetic testing by their physicians.
Andres Moreno De Luca, M.D., research scientist at the Genomic Medicine Institute, Geisinger Health System, and lead research of the study, explained:
“There is a widespread misconception that most cases of CP are caused by difficult delivery leading to birth asphyxia. What we’re finding is a growing body of evidence that suggests mutations in multiple genes are responsible for CP. In fact, we suspect these genetic abnormalities may also be the cause of some difficult births to begin with.”
Although there has been considerable improvements in neonatal and obstetric care for over 4 decades, the global prevalence of GP has remained stable at 2-3 per 1,000 live births. Birth asphyxia (insufficient oxygen supply to fetuses), continues to be the most researched factor linked to CP – electronic fetal monitoring and other technologies have been created to identify fetal distress.
David Ledbetter, Ph.D., chief scientific officer, Geisinger Health System, said:
“What we’re finding is the even though more preventative efforts have been put in place like fetal monitoring, the incidence of CP has not decreased. We’ve seen a five-fold increase in the rate of caesarean sections, which are doing in part to avoid potentially difficult delivery, and again, the CP rates remain steady. These findings lead us to believe genetics play a much bigger role than previously thought.”
According to the researchers, although the majority of CP cases are not due to birth asphyxia and CP, cases that are usually cannot be avoided by obstetric intervention, an estimated 76% of U.S. obstetricians faced medical malpractice litigation between 1999 and 2003, primarily for alleged birth mismanagement resulting in CP.
Dr. Luca explains:
“We now know of six genes that can cause CP when disrupted, and we estimate that many other developmental brain genes probably contribute to the genetic heterogeneity of this disorder. Many capable obstetricians face legal action even though research is telling us genetics is the likely cause of most cases of CP.”
According to the researchers, there will probably be an increase in research efforts, a change in the diagnostic approach, and eventually novel therapies for treating CP as more clinicians, researchers and the general population start to consider CP as a group of neurogenetic disorders.
Written By Grace Rattue