1 in 3 cases of cerebral palsy may be genetic

Cerebral palsy is the most common form of childhood disability and it has been traditionally blamed on birth mishaps and medical negligence, but up to one in three may in fact be caused by underlying genetic conditions.

CEREBRAL palsy is often blamed on birthing injuries and medical negligence, but around one third of all cerebral palsy cases may have a genetic cause researchers have discovered, leading the way for prospective treatments.

Approximately 10 babies a week are born with cerebral palsy, which is the most common cause of disability of children.

Historically cerebral palsy, which is movement disorder marked by stiff muscles, an inability to move or uncontrolled movements, has been blamed on birth complications, and drives a massive medical negligence claims business leading to multimillion dollar payouts.

Medical negligence payouts cost NSW taxpayers close to $100 million each year, with obstetrics a major contributor.

Geneticist Professor Jozef Gecz from the University of Adelaide is part of an international consortium of researchers mapping the role of genetics in the condition.

Professor Jozef Gecz is leading research into the genetic causes of cerebral palsy.

“People started to notice that in some cases you saw multiple children with cerebral palsy in the same family, which was unlikely to be malpractice factors, and that is where we started to speculate genetic contributions,” Prof Gecz said.

“Over our 10 years of study, in our cerebral palsy biobank, where we have about 500 individuals, one in four of these have a genetic explanation. A mutation on a specific gene, or multiple copies of genes, or some missing.

“To realise cerebral palsy is at least partly genetic, there will be cases of cerebral palsy because a stroke happened or obstetric malpractice, but the fact one in four, and in our survey of all the available published cases suggest perhaps one in three cases, are genetic,” Prof Gecz said.

“This has a huge implication for their health care because 50 per cent of the genetically diagnosed patients can have improvement in their healthcare because of the diagnosis,” he said.

It also paves the way for prevention, he said.

Isabella Lombardo, 10, who suffers from cerebral palsy, which has affected her ability to walk. Picture: Supplied

“The recurrence risk of having another child with cerebral palsy can be controlled because genetic tests are available. A lot of these could be prevented by preconception testing. If 30 per cent of even 25 per cent of cerebral palsy cases can benefit from what genomics has on offer, that is going to be phenomenal. It will significantly decrease the burden of cerebral palsy overall. We’re not saying we want to prevent these children being born, it will never be prevented, but a genetic diagnosis gives a better health future for these individuals,” he said.

The growing body of evidence will also impact on medicolegal claims, some of which have been in the order of $6-10 million per child.

“We pay a lot for malpractice and, of course, sometimes it is malpractice, but in many cases it is perceived malpractice and we point the finger to people doing something wrong when they didn’t,” Prof Gecz said.

North Shore obstetrician Dr Vijay Roach, former president of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists, said the genetic steps forward in the field had enabled a better understanding of the causes of cerebral palsy.

“If we have genetic knowledge, we can have a better understanding of why something happened rather than making the assumption that it was due to something the doctor did,” he said.

Isabella Lombardo with her mum, Libby, who has no idea how her daughter acquired cerebral palsy after her straight forward birth.

“We still need to look for antenatal risk factors appropriately but there are some children who had a genetic cause or predisposition already. We need to recognise that could be the more significant factor,” Dr Roach said.

Genetic conditions also have the opportunity for the future development of specific treatments that can address the mutations with breakthrough medications already in use for other similar conditions.

“It can be genetic so it can be diagnosed, it can be prevented and, hopefully, it can be treated very specifically,” Prof Gecz said.

Libby Lombardo’s 10 year old daughter Isabella has severe cerebral palsy and, to this day, she does not know what caused it.

“There was no birthing injury. She was breech, but that was fine. And her Apgar results were perfect. And we really didn‘t know until she was three months old, four months old, and then taking her for those regular check-ups when the nurse said, ‘Oh, she’s not lifting her head very well’,” the Chatswood mum of two said.

Isabella Lombardo with her parents, Libby and Joseph Lombardo, and her little brother Joey, 6.

Isabella was diagnosed at age two and the family were told their little girl would never walk.

“After doing some assessments, they said she’ll be in a wheelchair. She’ll spend her life in a wheelchair, she won’t be able to walk, and progressively she’ll get worse,” she said.

Ms Lombardo said early knowledge of the condition was crucial, because early intervention could make a world of difference, and a genetic test would give an early indication.

“Yes, extremely important. Early intervention is what it’s all about because the condition destroys her body. The longer you leave the condition in the body, it will destroy her muscles and her ability to grow. It will deform her body over time. So, if you can treat it young, the body can then just grow freely.

“Answers would be amazing. Answers are everything to me. Everybody‘s looking for hope, all of us parents are looking for any kind of hope,” she said.

The family opted to take their Isabella to the USA in 2016 for an operation called a Selective Dorsal Rhizotomy, where the surgeon cuts the nerves in the spinal cord so that the muscles can relax.

The family is pushing for the surgery to be performed in Australia.