Cerebral Palsy Genetics Program
Cerebral palsy (CP), the most common motor disability in children is often considered an injury to the developing brain before or during childbirth. There is now an increasing recognition that a child’s genetic makeup may affect their chances of developing CP. In a study by our Center and the Columbia University Institute for Genomic Medicine, published in the journal of Developmental Medicine & Child Neurology, we found that there is no significant difference in diagnostic rate between those with risk factors for CP, such as preterm birth, and those without risk factors. This suggests that genetics may play a contributing role even when there are other identified risk factors for CP. Identifying a genetic cause can often lead to changes in medical management, and potentially lead to precision treatments, as the biological effects of the genetic variant become known.
CP Genetics Clinic
The clinic is led by a Board-Certified Child Neurologist Jennifer M. Bain, MD, PhD who specializes in developmental disorders. Dr. Bain leads the cerebral palsy genetics study at the Weinberg Family Cerebral Palsy Center (WFCPC). Dr. Bain will also work with a genetic counselor to obtain and interpret your family history, guide you on the testing involved, and interpret and explain the results. The Weinberg Family Cerebral Palsy Center’s Social Worker and Care Coordinator are also available to support your family.
The CP Genetics clinic is for individuals who already have a genetic diagnosis and have also been given a CP diagnosis, in addition to those who have CP, but have never had the genetic workup. The CP Genetics clinic aims to bring clarity which can lead to refined care plans for families with a cerebral palsy diagnosis.
When should a patient with CP have genetic testing?
Genetics testing can be beneficial to all patients with CP, even if we have a clear understanding of what could have caused the injury to the brain. Testing can help us answer if a genetic disorder made them more vulnerable to early brain injury. The recognition of genetic causes enables an answer to the vexing question of what caused the child’s CP and may help redirect care. In our clinic, we discuss genetics testing with families with the following conditions:
- No significant risk factors for CP such as premature birth, infection, and brain bleeds
- More than one family member affected
- Normal brain MRI findings
- Regression or progression of symptoms such as spasticity or weakness
- Clinical features suggestive of a genetic condition
- Signs of a metabolic condition
- Ataxic CP
- Comorbid intellectual disability or autism
What to expect at the CP Genetics Clinic
When you visit the CP Genetics Clinic, you can expect a comprehensive assessment of your condition. The process begins with a neurological evaluation, followed by a detailed review of your medical history, developmental milestones, and any previous diagnostic evaluations, including genetic testing. Typically, during your visit, you will spend one hour with a neurologist, followed by a 30 to 40-minute session with a genetic counselor who can provide insights into the genetic aspects of your condition. The clinic also offers the opportunity to engage with a research coordinator who can inform you about ongoing CP genetics clinical projects, providing you with the option to participate in research initiatives. Your visit to the CP Genetics Clinic is designed to be comprehensive, informative, and tailored to your specific needs and interests.
What type of testing is done?
Genetic testing involves examining a person's genetic makeup to understand the potential causes of their symptoms or disease. Genetic testing at our clinic encompasses a comprehensive approach. Genetic testing commonly used for individuals with CP includes, broad genetic testing with exome and genome sequencing and chromosomal microarray, or may involve more targeted testing, depending on the personal and family histories. Testing is most often performed on a cheek swab sample for children and both parents. This excludes siblings unless they are similarly affected. Genetic testing can often be facilitated through insurance. This streamlined approach ensures that we are equipped to provide timely and effective genetic insights to support patient care.
What if genetic testing is positive?
A positive result in genetic testing can encompass a wide range of potential changes in a patient’s care plan. The utilization of genetic testing will allow for early intervention, enabling early preventative measures. These changes will allow for more tailored treatment management. For a patient with cerebral palsy, while the core diagnosis of cerebral palsy may remain constant, the presence of comorbid conditions, such as seizures and epilepsy, can significantly affect treatment. Genetic information may not lead to a direct clinical diagnosis of epilepsy, but it can indicate an increased risk. This can prompt follow-up visits with specialists, who may then refer the patient to other medical disciplines for further evaluations. These referrals may extend to other specialty areas, ensuring a comprehensive and holistic approach to the patient’s healthcare.
What if genetic testing is negative?
When testing doesn’t immediately provide a genetic diagnosis, we recommend re-evaluating patients after two to three years to see if their presentation has changed. Examples might include spasticity that is progressing or emergence of new clinical features. Since new genes are discovered all the time, it may be worth reanalyzing patients’ sequencing data.
Referral to the CP Genetics Clinic
Patients who already have an identified genetic disorder that's associated with cerebral palsy can be referred to the clinic for further evaluation and management. Additionally, if an individual who has a suspicion for a genetic etiology, such as the presence of multiple neurological disorders or a lack of prior neurological workup, referral to the clinic is warranted. The decision to refer should be guided by the clinician's judgment, especially when genetics is being considered as a potential source of the patient's neurological disorder. Early diagnosis and intervention through the CP genetics clinic can significantly impact the patient's care and outcomes.
More Reading
Spotlight on Jennifer M. Bain, MD, PhD
Paper on Genetic Testing in Individuals with Cerebral Palsy
Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis.
Cerebral Palsy Genetics - Who to Test?
Genetics Counselor Anya Revah-Politi, MS, CGC on the Parálisis Cerebral Respuestas Podcast (in Spanish)
What is a genetics counselor, and why do I need one?
Cerebral Palsy Genetics Clinic Team
Jennifer M. Bain, MD, PhD
- Associate Professor of Neurology and Pediatrics at the Columbia University Medical Center
Anya Revah-Politi, MS, CGC
- Assistant Professor in Genetic Counseling
Anya Revah-Politi, MS, CGC is an Assistant Professor in Genetic Counseling in the Department of Neurology at Columbia University Irving Medical Center (CUIMC). Her role includes recruiting patients with neurogenetic disorders into the Precision Neurotherapeutics Program.
Anya is originally from Mexico City and completed her Genetic Counseling graduate education at Boston University. She is an ABGC board-certified genetic counselor with over 16 years of experience in clinical and laboratory genetic counseling, as well as academic research. After working as a prenatal and pediatric genetic counselor for seven years, she joined CUIMC in 2015 as a research genetic counselor at the Institute for Genomic Medicine (IGM). In 2018, she took an additional role as clinical laboratory genetic counselor at the Precision Genomics Laboratory (PGL). As of 2023, she joined the Department of Neurology as part of a new Precision Neurotherapeutics Program. The goal of this program is to identify patients with neurogenetic conditions who have mutations that are amenable potential genetic therapy development.
Anya brings a wealth of expertise and dedication to her work, contributing significantly to the fields of genetic counseling and neurogenetics. She is trilingual in English, Spanish, and French.
Jennifer Pimentel
- Care and Outreach Coordinator
Jennifer Pimentel joined the WFCPC in 2021. In her role, she coordinates all aspects of care for patients and acts as representative of the WFCPC, collaborating with other internal departments and with external community-based organizations.
Jennifer's expertise centers around service coordination in Early Intervention Programs, and case management for adults with disabilities.
Emelly Carrasco
- Clinical Research Coordinator
Clinical Research Coordinator Emelly Carrasco received her Bachelors in Neuroscience from Franklin and Marshall College. Before joining the WFCPC, she spent time as a Research Coordinator in genomic medicine, studying the implementation of genetic testing in diverse New York City populations. As Clinical Research Coordinator, Emelly will help oversee the clinical research studies and quality improvement initiatives for the WFCPC.
