Cerebral Palsy Research Network Blog

Archive for Research – Page 2

Cerebral Palsy Diagnoses Webinar

Bhooma Aravamuthan, MD, DPhil
Bhooma Aravamuthan, MD, DPhil

The Cerebral Palsy Research Network (CPRN) announced that its next webinar in its MyCP Webinar series would be on family attitudes toward a cerebral palsy diagnoses on Wednesday, November 18 at 8 pm ET. Bhooma Aravamuthan, MD, DPhil, a pediatric movement disorders neurologist from St. Louis Children’s Hospital, will share her objectives and preliminary data for this research. The presentation will be approximately 20 minutes and followed by an open Q&A. Dr. Aravamuthan is a leader in numerous initiatives for cerebral palsy (CP) in CPRN and the field with her recent appointment to the American Academy of Neurology Child Neurology Quality Measures Standing Workgroup. In conjunction with this study, Dr. Aravamuthan has been surveying clinicians who diagnose cerebral palsy in an effort to change the field’s understanding of CP with the advent of more genetic discoveries in conjunction with CP. In this webinar, she will talk about her recent study of clinicians and how she hopes to marry that with the feedback from families and individuals with CP to improve diagnoses and clinician / patient dialogue in support of families.

Interested participants need to register for the webinar to be sent instructions for joining. Webinars will be recorded and posted for later viewing. The MyCP Webinar series includes one presentation per month on different aspects of CPRN’s research studies. Please join us!

Genes and Cerebral Palsy

Michael Kruer, MD
Michael Kruer, MD

The Cerebral Palsy Research Network (CPRN) researcher Michael Kruer MD, a movement disorders pediatric neurologist and geneticist at the University of Arizona, was published last month in Nature Genetics for his work on the discovery of genes that may cause cerebral palsy (CP) by impairing the wiring of brain signals during early development.  These findings support the need for broader research being conducted by Dr. Kruer and CPRN. The early study of these genes led to treatment changes in some patients.

The published paper was based on genetic sequencing from 250 parent and child combinations (trios).  The CPRN study, led by Dr. Kruer and funding by the National Institutes of Health, will allow the analysis of a rich set of patient characteristics captured in the CPRN CP Registry in conjunction with genomic analyses for 500 additional trios. The findings from this study hold the promise to improve diagnoses and treatments for children with CP. Identifying genetic causes is key to providing personalized or precision medicine which will help tailor interventions for people with CP to enable more effective treatments.

When asked to explain the significance of these findings, Dr. Kruer said, “this study is the first firm statistical and laboratory evidence that a substantial proportion of CP cases are caused by genetic mutations; findings indicate CP genes don’t map to clotting and inflammation but more to early brain development; although brain wiring is complex, findings suggest new targeted therapies for CP are possible (rather than focusing simply on reducing symptoms as is current paradigm); early experience indicates that for some participants, genetic findings directly changed their clinical management (avoiding complication, reaching for best treatment first, or even prompting a completely new treatment that would not otherwise have been tried).”

We look forward to beginning to enroll patients from the CPRN CP Registry into this study in the coming months.

CPRN Investigator Funded for Feasibility Study

Ed Hurvitz, MD, Chair of Physical Medicine and Rehabilitation, University of Michigan
Ed Hurvitz, MD, Chair of Physical Medicine and
Rehabilitation, University of Michigan

Edward A. Hurvitz MD of Michigan Medicine, University of Michigan and Cerebral Palsy Research Network (CPRN) Executive Committee, was awarded the Foundation for Physical Medicine & Rehabilitation Gabriella Molnar grant for a project entitled “Feasibility of Adding Grip Strength Measures to Body Composition Assessments in Individuals with Cerebral Palsy.”  The aim of the project is to test the feasibility of adding measures such as waist-hip circumference, skinfold measures, and grip strength to a regular clinic appointment for individuals with cerebral palsy (CP) from age 8 through adulthood, and then potentially as data points in the CPRN CP Registry.  The Michigan Adults with Pediatric Onset Disabilities research group has published extensively on chronic disease risk in adults with CP.  Body composition and grip strength are well documented indicators for risk of morbidity and mortality in typical developing populations, and obesity has been associated with risk of multi-morbidity in adults with CP, including young adults between ages 18-40.  The study will also include a history of chronic disease with an exploratory aim to correlate body composition and hand grip findings to history. 

CPRN congratulates Dr. Hurvitz and his colleagues for their success in funding this research which was originally approved as a concept for CPRN in April 2019. This study addresses top priorities from Research CP, including the study of the effects of aging with cerebral palsy as well as laying the groundwork to do studies of exercise strategies to promote better health outcomes.  Co-investigators on the study include Drs. Mark Peterson, Dan Whitney, Heidi Haapala, Mary Schmidt, Angeline Bowman and Jessica Pruente. The funding amount is $10,000 dollars, to be used for measurement equipment and research assistance.  The start date is December 1, and the study is planned for 18 months.