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A growing number of genes have been identified in individuals with cerebral palsy (CP); however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype. An expert panel developed 6 criteria to review the reported cerebral palsy phenotype/description for each included study. Clinically relevant genes were extracted from each study and stratified into 2 tiers based on the quality. Eighteen studies were included. There was high confidence in the reported cerebral palsy description/phenotype from 8 studies. Of the initial 373 clinically relevant genes, 85 were tier II genes. Individual cerebral palsy motor disorder and phenotype data were absent for 349 of these individuals, limiting further analysis. The tier I gene list was composed of 6 genes: ATL1, COL4A1, GNAO1, KIF1A, SPAST, and TUBA1A. Bilateral spasticity was the most common motor disorder reported in individuals with variants in all 6 genes, and most individuals had accompanying conditions. Prioritizing the accurate reporting of motor and nonmotor phenotypes is crucial for future cerebral palsy genetic studies to further understand the underlying neurobiology. [ABSTRACT FROM AUTHOR]

To progress stem cell therapies for cerebral palsy, clinicians need to openly engage with patients about emerging evidence and be willing to refer to relevant clinical trials, if and when appropriate. To assess whether education can change clinicians’ confidence in information sharing and willingness to refer to relevant clinical trials, an online questionnaire was distributed at a scientific conference before and after a professional workshop on cell therapies for cerebral palsy. Of the 42 participants who completed the survey, 26 self-identified as clinicians. Of these, 81% had had patients ask about stem cells, yet in the pre-workshop questionnaire indicated they were not confident answering questions about cell therapies. Clinicians were most commonly asked about stem cell treatments provided by private clinics, stem cell research and current evidence. Post-workshop, knowledge and confidence regarding stem cells, as well as likelihood to refer to clinical trials using therapies with a strong evidence base (eg, umbilical cord blood/placental cells), significantly increased (p<0.001). This study highlights that by offering resources and education, clinician confidence and willingness to refer to cell therapy trials can improve; this may help drive the stem cell research landscape and support patient decision-making. [ABSTRACT FROM AUTHOR]

AbstractPurposeMaterials and MethodsResultsConclusion\nIMPLICATIONS FOR REHABILITATIONPathways and Resources for Engagement and Participation (PREP) is an intervention to optimise individuals’ participation by building problem-solving capacity and addressing environmental barriers. We investigated the feasibility of implementing PREP with young adults (18–30 years) with complex disability in Australia.Explanatory sequential mixed methods study in three stages. (i) PREP materials were collaboratively adapted by the research team and consumer research partners. (ii) Steps 1 and 2 of PREP (YA Supplement) were completed with three young adults with disability, and preliminary feasibility explored using qualitative methods. (iii) The feasibility of implementing adapted materials was examined using quantitative and qualitative methods involving four young adults with disability, six support people and two service providers.Stage 1: PREP Young Adults Supplement (PREP (YA Supplement)) for use alongside PREP was developed. Stages 2 and 3: findings indicated PREP (YA Supplement) was acceptable, appropriate and feasible. Three themes were identified: setting and achieving goals were associated with challenges and benefits; finding the right time to implement the program was necessary; and PREP (YA Supplement) drives a shift to a participation-focused approach.PREP delivered alongside PREP (YA Supplement) appears feasible with Australian young adults with complex disability.A novel supplement for the evidence-based Pathways and Resources for Engagement and Participation (PREP) intervention has been developed to enhance participation in life situations for young adults with disability in an Australian context (PREP Young Adult Supplement).Setting participation goals may be a substantial shift for young adults with disability and rehabilitation professionals, and involves considering attendance at, and involvement in, life situations.Implementation of PREP/PREP Young Adult Supplement is inherently flexible and can be adapted to suit the needs, preferences and circumstances of the participant.A novel supplement for the evidence-based Pathways and Resources for Engagement and Participation (PREP) intervention has been developed to enhance participation in life situations for young adults with disability in an Australian context (PREP Young Adult Supplement).Setting participation goals may be a substantial shift for young adults with disability and rehabilitation professionals, and involves considering attendance at, and involvement in, life situations.Implementation of PREP/PREP Young Adult Supplement is inherently flexible and can be adapted to suit the needs, preferences and circumstances of the participant. [ABSTRACT FROM AUTHOR]