Transitioning to sustainable, climate-resilient healthcare: insights from a health service staff survey in Australia

Abstract Background More than 80 countries, including Australia, have made commitments to deliver climate-resilient and low carbon healthcare. Understanding how healthcare workers view their own and their organization’s efforts to achieve sustainable and climate-resilient healthcare practice is vital to inform strategies to accelerate that transition. Methods We conducted an online staff survey in a large state government hospital-and-health-service organisation in Queensland, Australia, to ascertain attitudes and practices towards environmentally sustainable, climate-resilient healthcare, and views about the organizational support necessary to achieve these goals in their workplace. Results From 301 participants showed staff strongly support implementing sustainable and climate-resilient healthcare but require significantly more organizational support. Participants identified three categories of organizational support as necessary for the transition to environmentally sustainable and climate-resilient health services and systems: (1) practical support to make sustainability easier in the workplace (e.g. waste, energy, water, procurement, food, transport etc.); (2) training and education to equip them for 21st century planetary health challenges; and (3) embedding sustainability as ‘business as usual’ in healthcare culture and systems. Conclusions The research provides new insight into health workforce views on how organizations should support them to realize climate and sustainability goals. This research has implications for those planning, managing, implementing, and educating for, the transition to environmentally sustainable and climate-resilient health services and systems in Queensland, Australia, and in similar health systems internationally

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Abstract Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families. Enrolled patients were of diverse ethnic backgrounds and covered a wide age range (1.0–49.3 years). While the mean age at symptom onset was 0.8 ± 0.6 years [standard deviation (SD), range 0.2–5.0], the mean age at diagnosis was 10.2 ± 8.5 years (SD, range 0.1–46.3). We define a set of core features: early-onset developmental delay with delayed motor milestones and significant speech delay (50% non-verbal); intellectual disability in the moderate to severe range; mild hypotonia in infancy followed by spastic diplegia (mean age: 8.4 ± 5.1 years, SD) and later tetraplegia (mean age: 16.1 ± 9.8 years, SD); postnatal microcephaly (83%); foot deformities (69%); and epilepsy (66%) that is intractable in a subset. At last follow-up, 36% ambulated with assistance (mean age: 8.9 ± 6.4 years, SD) and 54% were wheelchair-dependent (mean age: 13.4 ± 9.8 years, SD). Episodes of stereotypic laughing, possibly consistent with a pseudobulbar affect, were found in 56% of patients. Key features on neuroimaging include a thin corpus callosum (90%), ventriculomegaly (65%) often with colpocephaly, and periventricular white-matter signal abnormalities (68%). Iron deposition and polymicrogyria were found in a subset of patients. AP4B1-associated SPG47 and AP4M1-associated SPG50 accounted for the majority of cases. About two-thirds of patients were born to consanguineous parents, and 82% carried homozygous variants. Over 70 unique variants were present, the majority of which are frameshift or nonsense mutations. To track disease progression across the age spectrum, we defined the relationship between disease severity as measured by several rating scales and disease duration. We found that the presence of epilepsy, which manifested before the age of 3 years in the majority of patients, was associated with worse motor outcomes. Exploring genotype-phenotype correlations, we found that disease severity and major phenotypes were equally distributed among the four subtypes, establishing that SPG47, SPG50, SPG51 and SPG52 share a common phenotype, an ‘AP-4 deficiency syndrome’. By delineating the core clinical, imaging, and molecular features of AP-4-associated hereditary spastic paraplegia across the age spectrum our results will facilitate early diagnosis, enable counselling and anticipatory guidance of affected families and help define endpoints for future interventional trials.</jats:p