Genetic testing in cerebral palsy with clinical and neuroimaging variables.

ABSTRACT:

Aim

To optimize genetic testing in children with cerebral palsy (CP) by using clinical and magnetic resonance imaging (MRI) variables.

Method

In this mixed methods study, we surveyed current approaches to genetic testing by Australian clinicians involved in the diagnosis of CP. Using an international expert panel we explored 78 variables, to determine which variables were thought to be supportive of monogenic CP. We tested the 78 variables in a retrospective cohort of 100 children with CP, of whom 21 had a genetic cause of CP.

Results

Forty-five clinicians replied to the survey of current practice, 91% agreed that genetic testing has a role in CP, although 47% thought that there was inadequate guidance on which patients to test. The expert panel reached 75% agreement

SUBMITTER: Tantsis EM 

PROVIDER: S-EPMC12521637 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature