Is Cerebral Palsy Genetic? Exploring Causes and Risk Factors

Cerebral palsy (CP), a neurological disorder that affects movement, muscle tone and motor skills, is known to be associated with various risk factors and potential causes, such as birth complications and oxygen deprivation. But many parents will ask questions about whether there are any genetic aspects to the origins of cerebral palsy, or if a family history of the condition will have any bearing on future generations.

It is important to note that much of the research into genetic or familial cerebral palsy is in its early stages, but there is nevertheless an emerging body of evidence showing that genetic factors may have some role to play in a small number of cerebral palsy cases.

In this blog post, we will examine the links between potential genetic and environmental causes of cerebral palsy, as compared to the role played by more commonly understood risk factors. This will help to provide parents with a greater understanding of a condition that can have serious lifelong consequences for those it affects.

Does Cerebral Palsy Have a Genetic Cause?

Cerebral palsy is a neurological disorder that impairs movement, muscle tone and motor skills, resulting from damage to the developing brain. This damage can be caused by various factors, such as oxygen deprivation, complex pregnancy and medical negligence, among other known risk factors. Identifying the cause of congenital cerebral palsy can be challenging, as numerous factors may contribute to the condition.

The role of genetics in cerebral palsy is complex, and relatively little is understood of this topic compared to better-known CP risk factors. The vast majority of the time, cerebral palsy cases result from an injury to the brain before, during or after birth, resulting in the various developmental problems that affect the child for the rest of their lives.

According to the UK disability charity Scope, genetic links to cerebral palsy are "quite rare". However, in recent years, international research has provided additional insights that suggest that genetic factors may play a greater role in cerebral palsy cases than previously thought.

A first-of-its-kind study was published in the Annals of Clinical and Translational Neurology in 2022, led by US researchers from the Harvard Medical School and Boston Children’s Hospital. This research revealed that as many as one in four patients with cerebral palsy may have some form of underlying genetic condition.

The researchers identified several genetic influences that contribute to the development of this neurological disorder, including small effects on many genes, gene-to-gene interactions, and complex interactions with multiple environmental factors. These potential causes of abnormal development or brain damage can occur at various stages in a child's life, from before birth to the early years of development.

Similarly, a study published in 2020 in Nature Genetics identified mutations in single genes that were shown to be responsible for at least some cases of cerebral palsy, adding further evidence to the case that genetic factors may have a bigger role to play in cerebral palsy than has been understood up until this point.

While genetic factors may play a role in some cases of cerebral palsy, there is no evidence that it should be considered an inherited condition. This means that even if there is a genetic component, it does not guarantee that a child will develop cerebral palsy, nor does it mean that the condition will be passed down through generations.

Why More Research is Needed on the Genetic Causes of Cerebral Palsy

Although these findings are potentially significant, it is important for parents to note that further research will be needed to verify whether it can be definitively stated that genetic disorders play an important role in cerebral palsy diagnoses.

Most of the existing studies of this link have involved only a small number of participants, and cannot be translated to any large-scale conclusions at this stage. However, this field of research is evolving quickly, and the promising conclusions of the early studies mean that a clearer picture of the genetic causes of cerebral palsy is likely to emerge in the coming years.

Based on the success of studies from overseas, UK healthcare providers are looking to further investigate the link between cerebral palsy and genetic mutations. An example of this is NHS East Genomics' NeuralNET cerebral palsy pilot study, which aims to find out more about genetic changes that cause cerebral palsy, in order to help build a genetic testing pathway in the NHS for children with rare neurological conditions.

Genetic testing for cerebral palsy would involve analysing a person's DNA to identify any genetic mutations or abnormalities that may be associated with the condition. This could represent a potentially major breakthrough in the treatment of cerebral palsy, making it possible to identify and treat the underlying genetic condition, while providing clarity on why some people currently develop cerebral palsy without a clearly identifiable cause.

As such, genetic research in cerebral palsy has the potential to provide more specific diagnoses and lead to new treatment plans for certain patients - however, this is still many years away from becoming a reality.

Non-Genetic Causes of Cerebral Palsy

While genetics may prove to play a vital role in the development and future treatment of cerebral palsy, parents should understand that all of the currently established CP risk factors and causes are non-genetic. Until further genetic research has been conducted, these are the most important aspects of the condition to focus on.

We explore these in greater detail below:

• Acquired cerebral palsy results from brain damage before the brain has fully developed, and can be caused by brain injury or infections, bacterial meningitis and viral encephalitis, or as a result of oxygen deprivation during the birthing process due to medical negligence.
• Brain malformations can lead to abnormal development and damage to the brain before birth, increasing the risk of cerebral palsy. These malformations can be attributed to both genetic and environmental factors. Examples of brain malformations associated with cerebral palsy include primary microcephaly, congenital hydrocephalus, and damage to the cerebral motor cortex.
• Infections and inflammation during pregnancy can increase the risk of cerebral palsy by affecting the developing brain. Pregnant women who contract infections such as rubella, cytomegalovirus and toxoplasmosis are at a higher risk of having a child with cerebral palsy.
• Other birth factors that can lead to cerebral palsy include premature birth, low birth weight and multiple births, such as for babies born as part of a set of twins or triplets. All of these factors can result in abnormal brain development, making the child more susceptible to developing cerebral palsy.

Other Risk Factors for Developing Cerebral Palsy

Identifying the risk factors for the development of cerebral palsy is crucial for preventing the condition and providing appropriate care and treatment for affected individuals. By understanding these risk factors, healthcare professionals and parents can take appropriate measures to reduce the likelihood of a child developing cerebral palsy.

Maternal health

The role of maternal health in the development of cerebral palsy cannot be underestimated. Factors associated with an increased risk of cerebral palsy include maternal BMI, medical conditions, and injury during pregnancy. Pregnancy complications such as infections and toxic exposures can also increase the risk of cerebral palsy.

It is important to take all necessary precautions during pregnancy to avoid these risks. This is why pregnant women should receive regular prenatal care, maintain a healthy diet and lifestyle, and avoid exposure to harmful substances.

Infant Illness

Certain illnesses during infancy may be considered a risk factor for developing cerebral palsy. Although it is not always possible to prevent these illnesses, early detection, and treatment can help minimise their impact on a child's development.

Healthcare professionals and parents should be vigilant in monitoring the health of infants and addressing any potential illnesses or complications. By doing so, they can help reduce the risk of a child developing cerebral palsy and ensure that affected individuals receive the appropriate care and treatment to manage their condition.

The Importance of Early Diagnosis and Treatment

Regardless of the specific causes of cerebral palsy, it is important that parents also play their role in ensuring that the condition is detected as early as possible so that their child can receive appropriate treatment.

This requires regular monitoring of the child's development, as parents should be vigilant for signs of developmental delays or abnormal muscle tone, especially if their child has risk factors for cerebral palsy. You can learn more about how to spot these symptoms here - if any concerns arise, they should be discussed with a doctor without delay.

Healthcare professionals may use a variety of tools to diagnose cerebral palsy, including developmental monitoring and screening, medical history and physical examination. In some cases, neuroimaging tests such as MRI scans may be used. The diagnosis of cerebral palsy is typically made when a child's motor development does not progress as expected, and other causes have been ruled out.

Once a diagnosis of cerebral palsy is made, a team of healthcare professionals will work together to develop a comprehensive treatment plan. This plan will be tailored to the child's specific needs and may involve:

• Physiotherapy to improve strength, mobility and coordination
• Occupational therapy to improve the skills needed for daily activities, such as dressing, eating and going to school
• Speech and language therapy to help with communication skills and swallowing difficulties
• Medications to manage specific symptoms of cerebral palsy - for example, muscle relaxants can help manage spasticity, and anticonvulsants can help control seizures. Pain relief medications can also be used to manage any discomfort
• Surgery, which may be recommended in some cases to improve mobility or manage complications. This could include orthopaedic surgery to manage bone and joint problems, or neurosurgery to manage issues such as spasticity or seizures.

It is important to remember that while cerebral palsy is a lifelong condition, early diagnosis and treatment can significantly improve the quality of life for individuals with the condition. This is why parents who educate themselves on all of the facts will be in a better position to manage their child's cerebral palsy as effectively as possible.

If you would like to know more about cerebral palsy, please visit our Cerebral Palsy Hub.