NeuralNET Cerebral Palsy Pilot Study

The percentage of uptake of WGS testing by families with a child with CP will be measured by comparing the number of families invited to the study to the number who proceed with testing at baseline

The reasons for declining the offer of WGS provided by families voluntarily to the referring clinician will be measured in aggregate using a questionnaire at the close of the recruitment

Specific genetic contributors to CP in children in the UK will be measured using the collation of WGS results at the close of the recruitment

Intolerance of uncertainty of parent/guardian will be measured with the short version of the validated Intolerance for Uncertainty scale, which is a 12-item self-administered questionnaire where items are rated on a 5-point Likert scale where a higher score means higher intolerance of uncertainty.

Four-item scale via self-administered questionnaire examining general attitudes (eg harmful vs. beneficial, unimportant vs. important, etc.) of parent/guardian to genome sequencing measured on a five-point Likert scale, where a higher score means more positive attitude.

Parent/guardian decisional conflict will be measured with validated sixteen-item self-administered questionnaire which assesses decisional certainty or conflict about a healthcare decision on a five-point Likert scale, where a higher score indicates higher uncertainty or conflict.

Parent/guardian empowerment relating to genomic medicine will be measured with the Genomics Outcome Scale, a validated six-item self-administered questionnaire with a 5-point Likert scale, where a higher score indicates higher theoretical construct of empowerment.

Parent/guardian decisional regret about WGS will be measured with a validated 5-item self-administered Decisional Regret Scale, which uses a 5-point Likert scale where higher scores indicate greater decisional regret.

Parent/guardian psychological impact of WGS will be measured with adapted 10-item version of the validated Feelings About genomic Testing Results (FACToR) scale, which uses a 5-point Likert scale to measure agreement with specific feelings about the impact of result disclosure after genomic testing, where a higher score indicates greater agreement with those feelings.

Impact of WGS on the family's quality of life will be measured using the Family Impact Module of The PEDS-QL, which is a 36-item validated self-administered scale. It uses a 5-point Likert scale where higher scores indicated greater agreement with specific items.

The clinical utility of WGS testing in children with CP from the Paediatrician's perspective will measured using the validated Clinician-reported Genetic testing Utility InDEx (C-GUIDE), a self-administered questionnaire which includes 17 items related to results received for the primary indication for testing and 9 items related to secondary variant results received. Individual items scores range from -1 to 2. An item score >0 indicates positive utility, item scores <0 indicate presence of negative utility, and item scores of 0 indicate absence of utility.

Number of candidate variants which warrant further investigation of pathogenicity via collaborative studies will be measured by collating potentially pathogenic variants of uncertain significance at the completion of the study.

Data to support the refinement of clinical criteria for assessing CP patient suitability for WGS testing will be measured using the correlation of clinical features with identification of causative variants by WGS