13 Feb Cerebral Palsy Sometimes Due To Genetics, Not Birth Trauma

MedicalResearch.com Interview with:
Prof. Jozef Gecz
NH&MRC Senior Principal Research Fellow
Professor of Human Genetics
School of Paediatrics and Reproductive Health
Faculty of Health Sciences The University of Adelaide at the Women’s and Children’s Hospital North Adelaide, SA

Medical Research: What is the background for this study? What are the main findings?

Prof. Gecz: Cerebral palsy is the most frequent movement disorder of children for many years considered to be due to brain injury. Given that cerebral palsy incidence has not changed dramatically over many years while medical care is constantly improving, we look for other causes and specifically genetic mutation. By investigating 183 children with cerebral palsy and for many also one or both of their parents we find that for at least 14% of these we can find plausible explanation in genetic mutation being involved in the causation of their cerebral palsy. Importantly, we find that 10% of these mutations are de novo, which means that these mutations are not present in the parents (specifically in their blood as that is the tissue source we tested). 4% of mutations were inherited from unaffected mothers to affected sons. Previous estimates suggested 2% genetic contribution to Cerebral palsy. We now know that it is at least 14% and likely more. If you are looking for compensation for this condition, contact an Indiana cerebral palsy lawyer.

Medical Research: What should clinicians and patients take away from your report?

Prof. Gecz: Cerebral palsy is at least to some extent genetic and not due to perinatal trauma. Some cerebral palsies can now be diagnosed and as such recurrence risk for other pregnancies mitigated. Accurate diagnosis is a start for better care, short and long term and provides explanations as to what went wrong.

Medical Research: What recommendations do you have for future research as a result of this study?

Prof. Gecz: We and international cerebral palsy research community need to extend these studies to larger cohorts of patients to refine the extent of genetic contribution to CP. For those genetic cases of cerebral palsy we will need to understand the role of the genes involved and how and if and when the problem can be fixed. For those cerebral palsy cases where we do not find genetic mutation we need to look harder for other explanations so we can minimise the risk of cerebral palsy.

Citation:

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

G McMichael, M N Bainbridge, E Haan, M Corbett, A Gardner, S Thompson, B W M van Bon, C L van Eyk, J Broadbent, C Reynolds, M E O’Callaghan, L S Nguyen, D L Adelson, R Russo, S Jhangiani, H Doddapaneni, D M Muzny, R A Gibbs, J Gecz and A H MacLennan

Molecular Psychiatry , (10 February 2015) | doi:10.1038/mp.2014.189

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MedicalResearch.com Interview with:, & Prof. Jozef Gecz (2015). Cerebral Palsy Sometimes Due To Genetics, Not Birth Trauma MedicalResearch.com

Last Updated on February 13, 2015 by Marie Benz MD FAAD