Genetic phenocopies of cerebral palsy: a review

Abstract

Cerebral palsy (CP) represents a heterogeneous group of non-progressive disorders of motor development and posture control, leading to activity limitation due to disturbances in a fetal or infant’s developing brain. In CP, motor impairment is often accompanied by disturbances of sensation, cognition, communication, perception, and (or) behavior, and (or) by a seizure disorder. Despite profound knowledge of the CP risk factors, in many patients, the latter cannot be identified, and the neuroimaging features of the brain injury may also be absent. Those patients, at least in part, can include children with undiagnosed genetic phenocopies of the CP. Literature search was performed using Scopus, Web of Science, PubMed (MEDLINE), and eLibrary databases. In the review, we briefly touch upon the current understanding of CP’s risk factors and pathophysiology. Common neuroimaging findings typical for CP subtypes are presented. We then discuss the role of genetic factors that can lead to the development of CP phenocopies, briefly describing their phenotypic subtypes and some of the specific diseases. Clinical and neuroimaging «red flags» that can prompt a diagnostic search for genetic disorders are reviewed. The role of modern genetic testing techniques, including high-throughput sequencing, in diagnosing CP phenocopies is described. We present a general diagnostic approach to suspected genetic CP phenocopies. Early identification of the pediatric population’s genetic conditions can affect the individual and family prognosis and the patient’s management.