ABSTRACT
Background: Lesbian, gay, bisexual, transgender, queer or questioning (LGBTQ+) people experience healthcare inequalities in cancer care. Previous studies have focused on knowledge, attitudes and behaviours of healthcare professionals (HCPs) treating adults with cancer and how these contribute to inequalities. To date, no research has focused on HCPs treating LGBTQ+ children and adolescents with cancer in the UK. This is important given that this group may be at a critical time for exploring their gender identity and sexual orientation, whilst also facing a cancer diagnosis. We aimed to explore the knowledge, attitudes and behaviours of paediatric, teenage and young adult oncology HCPs treating LGBTQ+ patients in the UK. Methods: We carried out semi-structured interviews with 8 HCPs in paediatric, teenage and young adult (TYA) oncology from the Royal Marsden NHS Foundation Trust. Eight questions were asked, which centred around participants' knowledge, attitudes and behaviours regarding management of LGBTQ+ patients in oncology. Interview transcripts were analysed by inductive thematic analysis. Results: We identified 10 themes, including novel themes (how HCPs acquire knowledge and expectations of a 'third party' to be the expert) which may underlie previously observed trends in knowledge, attitudes and behaviours of HCPs. We highlight other themes and HCP concerns specific to care of LGBTQ+ patients in paediatrics (influence of the parental-carer dynamic, concerns around patient age and development as a barrier to disclosure) which require further research. We found evidence of the interrelatedness of HCP knowledge, attitudes and behaviours and the ability of these elements to positively influence each other. We mapped our themes across these elements to form a new suggested framework for improving HCP-patient interactions in LGBTQ+ Cancer Care. We found a need both for individual HCP education and organisational change, with creation of a culture of psychological safety to improve patient care. Conclusion: Knowledge, attitudes and behaviours of HCPs are closely interdependent when providing care to young LGBTQ+ patients with cancer. The authors suggest that future efforts to improve care of these patients address this complexity by spanning the domains of our suggested framework. Whilst HCP education is essential, change must also occur at an organisational level.
ABSTRACT
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed.
