The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy.

Abstract

Cerebral magnetic resonance imaging (MRI) is considered an important tool in the assessment of a child with cerebral palsy (CP), as it is abnormal in more than 80% of children with CP, disclosing the pathogenic pattern responsible for the neurological condition. MRI, therefore, is recommended as the first diagnostic step after medical history taking and neurological examination. With the advances in genetic diagnostics, the genetic contribution to CP is increasingly discussed, and the question arises about the role of genetic testing in the diagnosis of cerebral palsy. The paper gives an overview on genetic findings reported in CP, which are discussed with respect to the underlying brain pathology according to neuroimaging findings. Surveillance of Cerebral Palsy in Europe (SCPE) classifies neuroimaging findings in CP into five categories, which help to stratify decisions concerning genetic testing. Predominant white and gray matter injuries are by far predominant (accounting for around 50 and 20% of the findings). They are considered to be acquired. Here, predisposing genetic factors may play a role to increase vulnerability (and should especially be considered, when family history is positive and/or causative external factors are missing). In maldevelopments and normal findings (around 11% each), monogenic causes are more likely, and thus, genetic testing is clearly recommended. In the miscellaneous category, the precise nature of the MRI finding has to be considered as it could indicate a genetic origin.