Researchers at the University of Adelaide discovered a genetic signal that is characteristic of both cerebral palsy and autism.

The detection comes from the first large-scale study of gene expression in children with cerebral palsy.

Scientists from the Australian joint cerebral palsy group at the Robinson Research Institute also showed common basic molecular pathways in clinically diverse cerebral palsy. They say that both conclusions significantly affect the weight of evidence for the underlying genetic causes of cerebral palsy. "Cerebral palsy is the most common motor incapacity of childhood with a frequency of about two in 1,000 newborns," said lead researcher Dr. Clare van Eyck, a research assistant, Adelaide Medical School, and the University of Adelaide. "We know that, like autism, it is a brain development disorder primarily during pregnancy. But the main causes of cerebral palsy are still poorly understood. "

In this study, scientists use the new RNA sequencing technology to measure messenger genes (RNAs) in cells in children with cerebral palsy.

Cell lines were studied in 182 individuals with cerebral palsy, and many of them showed impaired cellular signaling and inflammatory pathways, as seen in some children diagnosed with autism. "The results showed that neurological or signaling pathways that are disrupted in children with cerebral palsy intersect with those that are observed in childhood autism," says Dr. van Eyck. "This supports common biological changes in both cerebral palsy and autism spectrum disorders. Sometimes autism and cerebral palsy co-exist, which further emphasizes the general cause of appearance in some people. "

This is the last of a series of studies from the University of Adelaide, which has revealed a greater number of genetic mutations that are a probable cause of cerebral palsy. The use of these data, together with existing DNA sequencing results, increases the proportion of people with a probable genetic cause to about 25%.

The research group of the Cerebral Palsy of the University is headed by the Honored Professor Alastair McLannan and Professor Josef Gech, the Chairman of the Research Fund of the 7th Channel on the Prevention of Childhood Disability. They are leading the world in discovering the increasing genetic basis of cerebral palsy.

"This study continues to disprove the historical assumption that cerebral palsy is often associated with birth difficulties," says Professor McLennan.

Source: Materials provided by the University of Adelaide.

Journal Reference:

Claire L. van Eyck, Mark A. Corbett, Alison Gardner, Breguet W. van Bone, Jessica L. Broadbent, Kelly Harper, Alastair M. McLennan, Joseph Hex. The analysis of 182 transcripts of cerebral palsy indicates the dysregulation of trophic signaling pathways and overlap with autism. Translational psychiatry, 2018; 8 (1) DOI: 10.1038 / s41398-018-0136-4