A genetic mutation is sometimes to blame for cerebral palsy, an international study led by the University of Adelaide has found.
The neuro-developmental disorder, which disrupts control of movement, had long been blamed on oxygen deficiencies during pregnancy or birth.
Adelaide researcher Professor Alastair MacLennan said the latest work was undertaken after scientists began suspecting there was another reason.
“The myth had been that it’s due to birth asphyxia, due to problems at birth,” he said.
The research team mapped DNA from 183 people and determined genetic mutations were the likely cause of cerebral palsy in well over 10 per cent of cases.
“[It changes] how we look at cerebral palsy and we don’t put it aside as an enigmatic disorder with no explanation”, another of the researchers, Professor Josef Gecz, said.
“We have made a major inroad into the understanding … of cerebral palsy which was considered for many years a result of brain injury. Now we’re saying that at least a good proportion, 14 per cent or more, is genetic.”
Researchers now hope there will be significant improvement in diagnosing cerebral palsy, and benefits for its management and treatment.
“If we can help these patients, perhaps with autism or their learning or even controlling their seizures and perhaps make improvements to their movement, that would be our fantastic aim,” Professor Gecz said.
The team said use of gene therapies might be a future option.
Adelaide mother of one child with cerebral palsy, Maria Reinertsen, said she was pleased with the research progress.
Seven-year-old Matthew was diagnosed three months after birth but the condition does not stop him from having big dreams for his future.
“I want to be a fireman [or] a doctor,” he said.
Ms Reinertsen said her son struggled with everyday life, with problems bathing, dressing himself and getting to school.
“Matthew works very hard every day at therapy and he has for years,” she said.
“Our hope for Matthew is that he can be independent to the best that he can be.”
She hoped earlier diagnosis in the future might help other families manage cases of cerebral palsy.
“It brings a lot of pain to the child so if that can be prevented that’s just a massive plus,” she said.