Study Led by Phoenix Children's Shows Genetic Testing Can Change Care for Children with Cerebral Palsy

A genetic diagnosis can prevent complications and lead to precision treatments

PHOENIX, Jan. 6, 2025 /PRNewswire/ -- According to a study published in JAMA Pediatrics, a peer-reviewed medical journal of the American Medical Association, research conducted at the Phoenix Children's Research Institute at the University of Arizona College of Medicine — Phoenix shows genome sequencing can identify specific interventions that change care for individuals with cerebral palsy (CP), the most common cause of physical disability.

CP is a disorder that affects motor development and occurs as a result of injury or abnormal development of the brain. Since many cases of CP are caused by changes in a person's genetic code (mutations), the overall objective of the study was to determine how often genetic results would actually change care for individuals with CP.

"Our goal is to improve outcomes for patients with cerebral palsy and this study provides new evidence that obtaining a genetic diagnosis can trigger changes in preventative care, targeted symptom management and treatment," said Dr. Michael Kruer, a pediatric neurologist and human geneticist at Phoenix Children's who led the study. "Our findings indicate that early utilization of genetic sequencing could lead to new treatment options for CP patients."

The team behind the study was spearheaded by Sara Lewis, PhD, a former research associate at Phoenix Children's and the University of Arizona College of Medicine – Phoenix and included national and international thought leaders in the field. By sequencing the exome, researchers and clinicians can identify mutations that cause CP and related neurodevelopmental disorders, providing valuable insights for diagnosis, treatment and research into these conditions. Meta-analysis revealed 27 percent of the 1,841 CP patients who underwent exome sequencing had an identifiable genetic etiology. More than two hundred different genes were implicated. In the patients with identified genetic explanations for their CP, about one in four had a genetic etiology classified as actionable, expected to prompt a change in clinical management. Taking into account anticipated treatment efficacy, outcome severity and intervention safety/practicality, the researchers found overall moderate-high clinical utility of genetic findings. 

"Our team continues to focus on cutting-edge research to deepen our understanding of the genes that lead to cerebral palsy. Our goal is to apply these insights to improve diagnosis and treatment on a national level," said Dr. Kruer. "While existing interventions for cerebral palsy are critically important, this study demonstrates that genetic testing and precision medicine treatments could be a valuable addition to standard treatment."

The Phoenix Children's Research Institute at the University of Arizona College of Medicine –Phoenix launched in May 2023, formalizing a longstanding research collaboration between the health system and the University of Arizona College of Medicine – Phoenix. The Research Institute includes more than 700 active studies, 640 research investigators and 90 research staff members, including research scientists, associates, biostatisticians, pharmacists, nurses and coordinators. Scientists engage in research across multiple clinical disciplines, including cancer, neurology, cardiology, pulmonology and more.

About Phoenix Children's
Phoenix Children's is one of the nation's largest pediatric health systems. It comprises Phoenix Children's Hospital – Thomas Campus, Phoenix Children's Hospital – East Valley Campus, Phoenix Children's – Avondale Campus, Phoenix Children's Hospital – Arrowhead Campus, four pediatric specialty and urgent care centers, 12 community pediatric practices, 20 outpatient clinics, two ambulatory surgery centers and seven community-service outpatient clinics throughout the state of Arizona. The system provides world-class inpatient, outpatient, trauma, emergency and urgent care and has been serving children and families for 40 years. Phoenix Children's Care Network includes more than 1,175 pediatric primary care providers and specialists who deliver care across more than 75 subspecialties. Alongside our colleagues, collaborators and communities, we're elevating pediatric care, education and innovation, so we can all grow healthier together. For more information, visit phoenixchildrens.org.

SOURCE Phoenix Children's