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Genetic study helps dispel cerebral palsy myth

Health & Medical

The first large-scale study of gene expression in children with cerebral palsy has provided evidence to further refute the public perception that the disorder is often caused by birth complications.

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The team of researchers at the University of Adelaide in South Australia uncovered a genetic signal common to both cerebral palsy and autism. They also showed common underlying molecular pathways in clinically diverse cerebral palsy.

Both findings add significantly to the weight of evidence for underlying genetic causes of cerebral palsy.

Cerebral palsy is the most common motor disability of childhood with a frequency of about two in every 1000 live births.

It can affect body movement, muscle control, muscle coordination, muscle tone, reflex, posture and balance. People who have cerebral palsy may also have visual, learning, hearing, speech, epilepsy and intellectual impairments.

“This research continues to refute the historical assumption that cerebral palsy is often due to difficulties at birth,” said Emeritus Professor Alastair MacLennan from the University of Adelaide’s Cerebral Palsy Research Group.

In the study, researchers used new RNA sequencing technology to measure the gene messengers (RNA) in cells from 182 Australian children with cerebral palsy.

Lead researcher Dr Clare van Eyk said many of the participants showed disruption of cell signalling and inflammatory pathways, as seen in some children with autism.

“We know that, like autism, it’s a disorder of brain development primarily during pregnancy. But the underlying causes of cerebral palsy are still poorly understood,” she said.

“This shows more specifically that there might be something going on at the gene level – some common factors that are causing both of these disorders.”

The research published in Translational Psychiatry is the latest in a series of studies from the University of Adelaide, which have found increasing numbers of genetic mutations that are the likely cause of cerebral palsy.

Dr van Eyk said no previous research had looked in detail at what was happening within the cells of people with cerebral palsy at this scale.

She said in the long term it was hoped the research would lead to early intervention strategies.

“At the moment, most of the genetic cases we’ve found are sporadic – there’s only a very small number that are actually familial, which is quite interesting. But if there is a common pathway being affected in individuals then we can target that early on to help with the clinical outcome,” she said.

“There’s been a general perception in the community that cerebral palsy is something that happens at birth and that’s led to parents blaming themselves and clinicians getting into trouble. But we think that’s only a very small proportion of cases.

“One thing that could be going on is some people have a genetic predisposition and then some further event during pregnancy might additively result in them having cerebral palsy.”

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