While most credit cerebral palsy to a lack of oxygen at birth, recent whole-exome sequencing genetic testing of 183 people with Cerebral Palsy (CP) has revealed that as many as 14% of cerebral palsy cases may be caused by genetic mutations. Similarly, genetic mutations were found in 15.8% of the 258 children with Autism Spectrum Disorder (ASD) diagnoses who were tested in a separate study involving two distinct genetic tests.
How does this information help people with disabilities?
The ultimate hope is that this knowledge will lead researchers to develop preventative genetic techniques one day, thereby decreasing the number of cases of CP and ASD. Another benefit of the testing is to give parents more information as to the likelihood of future children being born with either disability. However, it is merely a piece in the puzzle at this point, not a definite indicator for all cases. Knowing the root of the cause (genetic vs. unknown or oxygen deprivation or malpractice) may help physicians to choose the most effective treatment plans. It may also provide an earlier diagnosis of the genetically induced cases, thereby providing faster treatment and interventions and, hopefully, better results.
Unfortunately, not all genetic testing is readily available, some is limited to research settings. It can be difficult to get insurance companies to approve genetic testing of any sort–and it’s not cheap–but it may be something worth learning about.
For more information on these studies:
- The CP study was published in the Journal of Molecular Psychiatry.
- The ASD study was conducted by Stephen Scherer of the Hospital for Sick Kids in Toronto, Canada.
- “Genes’ Role in Cerebral Palsy ‘Much Stronger’ Than Once Thought” – Disability Scoop
- “Genes May Play Bigger Role in Cerebral Palsy” – Disability Scoop
- “Tests Help Shed Light on Autism Genetics” – FoxNews