Cerebral Palsy Genetics: Who to Test
Members of the Weinberg Family Cerebral Palsy Center (WFCPC) collaborated with the Columbia University Institute for Genomic Medicine to determine which patients with cerebral palsy (CP) should undergo genetic testing. The study was recently published in the journal of Developmental Medicine & Child Neurology.
"As doctors who treat people with CP, we sought to answer this question: "who should we test for a genetic cause?" We thought that it would be people who did not have any of the major risk factors for CP, such as prematurity, bleed, or infection. To our surprise, there were nearly as high a rate of genetic causes in people with these risk factors as those without. This finding has informed our clinical practice—we routinely screen all of our patients with CP for a genetic cause," said Dr. Jason Carmel, Executive Director of the Weinberg Family CP Center.
For people with cerebral palsy, the recognition of genetic causes enables an answer to the vexing question: "Why do I (or my loved one) have CP?" Finding genes linked to CP can help better understand the disorder. Eventually, it may help to better treat it as well, since some genetic variants have drugs or genetic treatments that can improve function.
Summary of Study:
Cerebral palsy (CP), injury to the developing brain that impairs movement, was considered an acquired disorder due to an acquired condition, such as premature birth. There is an increasing recognition of genetic factors in the etiology of CP, but whether genomic testing should be reserved only for people with CP and no identified risk factor is not known. To address this gap in understanding, a collaboration between the Weinberg Family CP Center, led by Dr. Jason Carmel together with Dr. Jennifer Bain, Dr. Johsua Hyman, Dr. David Roye, and the Institute for Genomic Medicine (IGM), led by Dr. David Goldstein with first author Halie May, was formed. The team collected genetic samples from 151 people with CP and performed whole-exome sequencing. As recently reported in Developmental Medicine & Child Neurology, they found no statistically significant difference in diagnostic rate in individuals with and without risk factors for CP. In addition, they found six genes not previously associated with CP: ATM, SMARCB1, ZSWIM6, SCN1A, and DOCK6; these occurred only in the group with CP risk factors, the PPT1 gene occurred in a patient without a risk factor. This suggests that these variants might make the individuals more susceptible to acquired brain injuries. They conclude that both individuals with and without identified risk factors for CP may benefit from genetic testing.
Collaborating with the WFCPC team has given me clinical perspective on my work in translational genomics. It has allowed us at the Institue for Genomic Medicine (IGM) to better understand what a diagnosis of CP means and how the diagnosis of a genetic condition may affect the patient’s identity," said first author Halie May of IGM.
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