Navigating the facilitation journey: a qualitative, longitudinal evaluation of 'Eat Walk Engage' novice and experienced facilitators.

BACKGROUND: The Promoting Action on Research Implementation in Health Services (PARIHS) and integrated-PARIHS (i-PARIHS) frameworks position facilitation as an overarching strategy to enable implementation. In the revised i-PARIHS framework, facilitation is operationalised through a multi-level model with novice, experienced and expert facilitators working together in a network structure to build facilitation knowledge and skills along a continuum. To date, there has been limited evaluation of this facilitation model in practice, which is the aim of the study reported here. METHODS: A descriptive, qualitative longitudinal study was undertaken to track a team of four novice and two experienced facilitators involved in facilitating the implementation of an intervention known as 'Eat Walk Engage' to improve multidisciplinary team delivery of age-friendly care principles in hospital. Over an 18-month period, repeat interviews were conducted to explore the learning, development, and evolving roles of novice facilitators and the roles of the experienced facilitators in providing support and mentoring. Interview data were analysed using a descriptive qualitative approach and findings were interpreted in collaboration with the participating facilitators. RESULTS: The findings demonstrated experiential learning in both the novice and experienced facilitator groups as they enacted their roles in practice. The novice facilitators progressively transitioned to becoming more experienced facilitators and the experienced facilitators became increasingly expert, in line with the i-PARIHS concept of a facilitation journey from novice to expert. Strategies to support this development included a staggered approach to learning, regular meetings between the experienced and novice facilitators, reflective writing and informal peer support and networking. However, the roles were not without challenge and these challenges changed over time, from a more specific focus on the demands of the facilitator role to concerns about embedding and sustaining improvements in practice. CONCLUSIONS: Within a network of peers and a mentored relationship with more experienced facilitators, individuals who are new to an implementation facilitator role can transition along a continuum to become experienced facilitators. Building implementation facilitation capability in this way takes time and requires tailored support and mentorship using a mix of structured and flexible approaches incorporating opportunities for reflection to support individual and group learning.

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.

Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and may be a hidden cause of other neurodevelopmental and neurodegenerative disorders. At present, brain mosaicism can be detected only in the rare situations of autopsy or brain biopsy. Liquid biopsy using cell-free DNA derived from cerebrospinal fluid has detected somatic mutations in malignant brain tumours. Here, we asked if cerebrospinal fluid liquid biopsy can be used to detect somatic mosaicism in non-malignant brain diseases. First, we reliably quantified cerebrospinal fluid cell-free DNA in 28 patients with focal epilepsy and 28 controls using droplet digital PCR. Then, in three patients we identified somatic mutations in cerebrospinal fluid: in one patient with subcortical band heterotopia the LIS1 p. Lys64* variant at 9.4% frequency; in a second patient with focal cortical dysplasia the TSC1 p. Phe581His*6 variant at 7.8% frequency; and in a third patient with ganglioglioma the BRAF p. Val600Glu variant at 3.2% frequency. To determine if cerebrospinal fluid cell-free DNA was brain-derived, whole-genome bisulphite sequencing was performed and brain-specific DNA methylation patterns were found to be significantly enriched (P = 0.03). Our proof of principle study shows that cerebrospinal fluid liquid biopsy is valuable in investigating mosaic neurological disorders where brain tissue is unavailable.

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.

OBJECTIVE: To determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis. METHODS: We used sensitive droplet digital PCR (ddPCR) to detect and quantify the GNAQ mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations. RESULTS: Low levels of the GNAQ mutation were detected in the brain tissue of all 4 cases-ranging from 0.42% to 7.1% frequency-but not in blood-derived DNA. Molecular evaluation confirmed the diagnosis in 1 case in which the radiologic and pathologic data were equivocal. CONCLUSIONS: We detected the mutation at low levels, consistent with mosaicism in the brain or skin (1.0%-18.1%) of classic cases. Our data confirm that the forme fruste is part of the spectrum of SWS, with the same molecular mechanism as the classic disease and that ddPCR is helpful where conventional diagnosis is uncertain.

Exposure to Temozolmide in the First Trimester of Pregnancy in a Young Woman With Glioblastoma Multiforme.

Literature on the outcome of pregnancy with first trimester exposure to Temozolomide is limited. We describe the case of a young woman with Glioblastoma Multiforme who was exposed to Temozolomide during her first trimester of pregnancy and subsequently delivered a healthy term newborn. At six months of age, the child remains healthy with no evidence of Temozolomide related effects.