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Aim To investigate the psychosocial impact of genetic testing for childhood‐onset developmental and epileptic encephalopathies (DEEs) in order to identify parents’ information and support needs. Method In this mixed‐methods study, we conducted in‐depth semi‐structured interviews with parents (n=25) of children, recruited from the Sydney Children’s Hospital Network, Australia, who had received genetic testing. Thematic saturation was reached; interviews were transcribed, deidentified, line‐by‐line coded, and thematically analysed by three coders, using an inductive approach. We also quantitatively assessed the impact of genetic testing on quality of life outcomes and parents’ satisfaction with genetics services. Results Qualitative and quantitative analysis revealed that compassionate genetic counselling and consistent clinician–parent partnerships facilitated parents’ capacity to process their child’s genetic diagnosis. Parents believed that a sparsity of diagnosis‐specific information to contextualize their child’s genetic DEE, combined with limited psychosocial resources to support coping with ongoing prognostic uncertainty, contributed to chronic psychological stress. Access to diagnosis‐specific resources and peer support was considered necessary to support parents in communicating their child’s genetic DEE and to reduce social isolation. Interpretation Integrated psychosocial resources, including tailored psychological supports, diagnosis‐specific information, and peer‐to‐peer supports, are priority areas to complement genetic services.

Aim To implement and appraise a new model of care in terms of: patient experience, knowledge of epilepsy, readiness for transition and emotional and behavioural support in a new purpose‐built facility for adolescents and young adults. Methods The new model of care included: upskilling of neurology staff in adolescent engagement and provision of group education sessions on epilepsy and mental health (MH), along with MH support, in a new purpose‐built adolescent facility. Parameters examined pre‐ and post‐attendance at the new clinic included: adolescent experience of service delivery, transition readiness, emotional and behavioural well‐being, epilepsy knowledge and medication adherence. Results A total of 45 adolescents (mean age 15.7 years) attended the new epilepsy clinic between February 2017 and December 2017. Adolescents felt significantly better informed following education in relation to epilepsy and driving, alcohol/street drugs and birth control/pregnancy. There was no significant improvement in self‐reported medication adherence, transition readiness or mental well‐being at follow‐up. While MH education was ranked highly in terms of importance by adolescents and parents at baseline, attendance at MH education and engagement with MH support was low. Conclusions This paper documents what is important to young people with epilepsy regarding service delivery. The new adolescent service was well received. Based on feedback from adolescents and parents relating to the service, and the suboptimal uptake of MH supports, the model of care has been revised to reduce attendance burden on families and improve patient experience.

The purpose of this study was to evaluate whether a neurology outreach teaching programme delivered via video-teleconferencing (6 Â 60 min live sessions every 6-8 weeks) is acceptable, contributes to understanding and meets the neurology learning needs of Australian paediatricians from metropolitan, rural and remote areas. Methods: A sample of six NSW sites that joined the neurology outreach programme between 2017 and 2019 (Arm 1) and six interstate sites from QLD, WA and TAS who commenced the programme in 2020 (Arm 2) participated. A mixed-methods survey explored participants' learning needs and value of the programme. Results: Forty-six participants submitted programme evaluation surveys (26 arm 1, 20 arm 2); 9 were removed due to insufficient data (n = 37). Quantitative and qualitative data showed the programme was acceptable in format, relevant to practice, appropriate for clinician learning needs, and engaging. Clinicians reported improvement in understanding and confidence. Participants felt more connected/less isolated and up-to-date. Participants reported a positive impact from the programme on approach to neurological problems and ensuing consults, and more differentiated and appropriate paediatric neurology referrals. Conclusion: This study validates the live video-teleconference outreach model as an acceptable, effective and important means of providing continuing neurology education for Australian paediatricians.