The possible causes of cerebral palsy have long been a subject for debate. A new study sheds light on its genetic connection.
Cerebral palsy, typically associated with birth trauma from asphyxia (oxygen loss), brain injury, or complications from prematurity, has been in scientific news recently. Using human genome sequencing, scientists have traced numerous cerebral palsy cases to particular genetic mutations. A large National Institutes of Health-sponsored study of 250 international cerebral palsy participants, found that gene mutations occurred during cell division in the egg or sperm or after insemination. Instead of exact duplicates, the cells reproduced imperfect copies of themselves, and these mutations have a connection with cerebral palsy. Though researchers previously discovered genetic mutations associated with cerebral palsy, this new study identified new gene mutations verified to cause cerebral palsy. Too many of these mutating genes or inherited recessive genes for the defect create a brain disorder causing cerebral palsy in about 14% of cases.
The Intersection of Cerebral Palsy and Genes
While obstructed blood flow, oxygen loss, or brain injury at birth cause cerebral palsy in some cases, science has yet been able to determine the cause of the disease in most other cases. Studies uncovered the congenital link as advanced technology allowed genetic sequencing examination and isolation of the complete DNA picture of a human being. Now, scientists have pinpointed what happens to the brain wiring when too many of these identified mutations occur in developing fetuses. Researchers performing experiments on fruit flies discovered parallel results when they caused mutations to the same type of brain circuitry genes. The fruit flies showed similar symptoms to cerebral palsy, including walking and balancing problems.
Cerebral palsy leaves children with weak limbs, seizures, spasticity, immobility, or impaired mobility. It may also affect speech, vision, and hearing. Children with this common condition (1 out of 323 children get it) may have spinal deformities and intellectual challenges. Many children with cerebral palsy require special equipment or assistance performing daily functions like eating, going to the bathroom, or moving their bodies, though the severity of symptoms varies. There is no cure, but scientists hope to develop more specific treatments for cerebral palsy with this new information. Since they have identified which genes led to seizures, cognitive delay, or autism, they can formulate patient-specific therapies. The researchers found the affected genes connect to early neurological brain development, so the hope is that with these new findings, further research can lead to new treatments and prevention options from early in a child’s life.
A Promising Path Forward
Today, those born with cerebral palsy have more hope than they did just ten years ago when treatment options were more limited. Now that science has a better idea of the genetic source of cerebral palsy, the promise is in configuring new technologies to diagnose cerebral palsy and treat the condition earlier with newer methods. In fact, three patients in the study benefited from these new findings when their treatments were better matched to their specific symptoms. In addition, new applications of MRI technologies in detecting and predicting the telltale genetic signs of cerebral palsy may be on the horizon as researchers further explore the implications of the study.
Overall, those with cerebral palsy fare better if treatment begins earlier in life when a child’s neurology is more pliable. As such, doctors should test early or refer their patients to neurologists who can perform the necessary tests and devise a treatment plan for the specific symptoms of each child. Since symptoms vary so much from patient to patient, physicians need to know and understand what this recent study uncovered.
One major importance of the genetic study is that cerebral palsy is now viewed as a collection of genetic defect variables that produce varying symptoms within a range of possible symptoms in each person. While cerebral palsy treatment consists of therapeutic adaptations to life with the disease, the outlook with this new discovery offers hope that patients may live a higher quality life when doctors can create early treatments better matched to each patient’s variation of the disease. Understanding the causes of disease allows scientists to target their focus on finding and treating the disease, just like other treatable diseases.
Testing is Crucial for Better Outcomes
When it comes to cerebral palsy and other neurological conditions, the key is still diagnosing and treating early. Your pediatrician must be aware of the latest developments in the field of childhood diseases like cerebral palsy. Doctors who are not up to date on the latest findings about cerebral palsy may miss the opportunity to diagnose the condition when present in their young patients. Also, if a pediatrician or other medical professional chooses to take the cautious wait and see approach, they could be responsible for delaying a child’s optimal time to maximize their treatment outcomes. This is a significant disservice to a child.
If your child was diagnosed with cerebral palsy later than one year, you may question whether they could have achieved greater strides combating the disease with early physical, neurological, and adaptive therapies that enable greater motor and cognitive growth, as well as avoid setbacks related to delayed diagnosis and treatment.
Delayed diagnosis of diseases is one of the top reasons for pediatric malpractice actions against medical professionals. If your doctor failed to diagnose and treat your child’s cerebral palsy until more time had passed, depriving them of their best chance for successful treatment and causing undue pain and suffering in the interim, you might have a claim for medical malpractice. Consider speaking with an experienced cerebral palsy attorney to discuss the circumstances surrounding your child’s case and whether you may be entitled to compensation.
We are Here for You
As pediatric medical malpractice attorneys with a background handling cerebral palsy cases, we are aware of the trends, practices, diagnoses, and treatments for the condition and what doctors and their staffs must do to competently care for children affected by CP. To receive a free legal consultation and inquire as to whether you can recover damages for your past losses and the cost of future expenses when caring for your child with cerebral palsy, contact us online or call (866)-708-8617 today.