The SuperCam Instrument Suite on the NASA Mars 2020 Rover: Body Unit and Combined System Tests.

The SuperCam instrument suite provides the Mars 2020 rover, Perseverance, with a number of versatile remote-sensing techniques that can be used at long distance as well as within the robotic-arm workspace. These include laser-induced breakdown spectroscopy (LIBS), remote time-resolved Raman and luminescence spectroscopies, and visible and infrared (VISIR; separately referred to as VIS and IR) reflectance spectroscopy. A remote micro-imager (RMI) provides high-resolution color context imaging, and a microphone can be used as a stand-alone tool for environmental studies or to determine physical properties of rocks and soils from shock waves of laser-produced plasmas. SuperCam is built in three parts: The mast unit (MU), consisting of the laser, telescope, RMI, IR spectrometer, and associated electronics, is described in a companion paper. The on-board calibration targets are described in another companion paper. Here we describe SuperCam's body unit (BU) and testing of the integrated instrument. The BU, mounted inside the rover body, receives light from the MU via a 5.8 m optical fiber. The light is split into three wavelength bands by a demultiplexer, and is routed via fiber bundles to three optical spectrometers, two of which (UV and violet; 245-340 and 385-465 nm) are crossed Czerny-Turner reflection spectrometers, nearly identical to their counterparts on ChemCam. The third is a high-efficiency transmission spectrometer containing an optical intensifier capable of gating exposures to 100 ns or longer, with variable delay times relative to the laser pulse. This spectrometer covers 535-853 nm ( 105 - 7070 cm - 1 Raman shift relative to the 532 nm green laser beam) with 12 cm - 1 full-width at half-maximum peak resolution in the Raman fingerprint region. The BU electronics boards interface with the rover and control the instrument, returning data to the rover. Thermal systems maintain a warm temperature during cruise to Mars to avoid contamination on the optics, and cool the detectors during operations on Mars. Results obtained with the integrated instrument demonstrate its capabilities for LIBS, for which a library of 332 standards was developed. Examples of Raman and VISIR spectroscopy are shown, demonstrating clear mineral identification with both techniques. Luminescence spectra demonstrate the utility of having both spectral and temporal dimensions. Finally, RMI and microphone tests on the rover demonstrate the capabilities of these subsystems as well.

Teaching family medicine residents about care of adults with intellectual and developmental disabilities.

PROBLEM ADDRESSED: Adults with intellectual and developmental disabilities (IDD), a group with complex health problems and inequities in access to health care, look to family physicians for primary care. OBJECTIVE OF PROGRAM: To enable residents to learn and demonstrate competencies that are unique to the care of adults with IDD with minimal extra time and resources required of the residency program. PROGRAM DESCRIPTION: In their regular family medicine teaching practices, residents undertake planned encounters with adults with IDD involving comprehensive health assessments with physical examinations. Tools to implement the Canadian guidelines for primary care of adults with IDD are available to support the residents in their encounters. Background information in the form of self-learning and small group learning resources, field notes with rubrics to assess residents' development of competencies, and faculty development resources are also available. CONCLUSION: It is important to include such planned clinical experiences in family medicine residency curricula because people with IDD have special needs that are difficult to learn about in other settings. It is a benefit to residents to have patients and families actively contributing to teaching.

HELP for behaviours that challenge in adults with intellectual and developmental disabilities.

OBJECTIVE: To provide primary care physicians with an understanding of the causes of behaviours that challenge (BTC) in adults with intellectual and developmental disabilities (IDD), as presented in the 2018 Canadian consensus guidelines for primary care of adults with IDD; to offer a systematic approach to the assessment and treatment of such behaviours; and to link to tools to support these assessments. SOURCES OF INFORMATION: This review elaborates upon guidelines 26 to 29 in the mental health section of the 2018 Canadian consensus guidelines. Several of the authors participated in the development of these guidelines, which were based on literature searches and interdisciplinary input. MAIN MESSAGE: Most adults with IDD are followed by primary care providers but they comprise a small proportion of primary care practices. Unique ways of communicating needs, diagnostic queries, and BTC are common in this population. This complexity can lead to missed diagnoses and inappropriate antipsychotic medication use with attendant risks. This article presents a systematic approach, HELP, to the assessment and treatment of factors of Health, Environment, Lived experience, and Psychiatric conditions that can lead to BTC and includes tools to support these assessments. CONCLUSION: A structured approach to the assessment and treatment of BTC in adults with IDD helps family physicians provide guideline-directed, individualized care to this population. This includes a systematic evaluation using the HELP framework that takes place over multiple visits. A team of health professionals might be needed for optimal care, but these resources are not routinely available across Canada.

Improving transition to adulthood for adolescents with intellectual and developmental disabilities: Proactive developmental and systems perspective.

OBJECTIVE: To demonstrate how family physicians can contribute to a piece of the journey of improving quality-of-life outcomes for people with intellectual and developmental disabilities (IDD) when they undergo the transition from adolescence to adulthood. SOURCES OF INFORMATION: The "Primary care of adults with intellectual and developmental disabilities. 2018 Canadian consensus guidelines" literature review and interdisciplinary input. MAIN MESSAGE: Family physicians should be proactive in anticipating and supporting the transition of people with IDD from adolescence to adulthood. Interventions should be guided by a developmental perspective regarding the person with IDD and a life-cycle approach to supporting families. Family physicians also have a role in helping people with IDD and their families to navigate successfully through changing community-based support systems in their province, especially health care and social services systems. Therefore, family physicians should be aware of current services available in their regions. CONCLUSION: Community and team-based family physicians can optimize the quality of life of people with IDD and their families by adopting a proactive developmental and systems approach to preparing youth with IDD for adulthood. In doing so, they exemplify the 4 principles of family medicine.

Primary care of adults with intellectual and developmental disabilities: 2018 Canadian consensus guidelines.

OBJECTIVE: To update the 2011 Canadian guidelines for primary care of adults with intellectual and developmental disabilities (IDD). METHODS: Family physicians and other health professionals experienced in the care of people with IDD reviewed and synthesized recent empirical, ecosystem, expert, and experiential knowledge. A system was developed to grade the strength of recommendations. RECOMMENDATIONS: Adults with IDD are a heterogeneous group of patients and have health conditions and factors affecting their health that can vary in kind, manifestation, severity, or complexity from those of others in the community. They require approaches to care and interventions that are adapted to their needs. These guidelines provide advice regarding standards of care. References to clinical tools and other practical resources are incorporated. The approaches to care that are outlined here can be applied to other groups of patients that have impairments in cognitive, communicative, or other adaptive functioning. CONCLUSION: As primary care providers, family physicians play a vital role in promoting the health and well-being of adults with IDD. These guidelines can aid their decision making with patients and caregivers.

Soins primaires aux adultes ayant des déficiences intellectuelles et développementales: Lignes directrices consensuelles canadiennes de 2018.

OBJECTIF: Mettre à jour les Lignes directrices consensuelles canadiennes 2011 en matière de soins primaires aux adultes ayant une déficience développementale. MÉTHODES: Des médecins de famille et d'autres professionnels de la santé expérimentés dans les soins aux personnes ayant des DID ont examiné et synthétisé les récentes connaissances empiriques, d'écosystèmes, expertes et expérientielles. Un système a été conçu pour catégoriser la qualité des recommandations. RECOMMANDATIONS: Les adultes ayant des DID sont un groupe hétérogène de patients qui présentent des affections médicales et des facteurs qui influent sur leur santé, qui diffèrent de ceux qui touchent les autres membres de la communauté de par leur nature, leurs manifestations, leur gravité ou leur complexité. Ces personnes nécessitent une approche de soins et des interventions adaptées à leurs besoins. Les présentes lignes directrices offrent des conseils en matière de normes de soins. Nous avons incorporé des références à des outils cliniques et à d'autres ressources pratiques. Les approches de soins décrites ici s'appliquent aussi à d'autres groupes de patients ayant un déficit cognitif ou de la communication, ou d'autres déficits des fonctions adaptatives. CONCLUSION: À titre de fournisseurs de soins de première ligne, les médecins de famille jouent un rôle vital de promotion de la santé et de bien-être auprès des adultes ayant des DID. Ces lignes directrices peuvent les aider à prendre des décisions avec les patients et les aidants naturels.

Patient Narratives as a Teaching Tool: A Pilot Study of First-Year Medical Students and Patient Educators Affected by Intellectual/Developmental Disabilities.

PROBLEM: People with intellectual and developmental disabilities (IDD) face complex biopsychosocial challenges and are medically underserved. This is in part due to insufficient resources and supports but can also be attributed to a lack of adequate physician training in addressing the unique needs of this population. INTERVENTION: This study aimed to introduce 1st-year medical students to the IDD population using a blended educational experience that included video narratives of and direct interactions with people affected by IDD. The goal of this intervention was to promote person-centered attitudes and communication among early medical trainees. CONTEXT: The study recruited 27 first-year medical students and randomly assigned each to 1 of 2 groups. The control group received an introductory video lecture about IDD healthcare, followed by a quiz. The narrative group received the same lecture, followed by reflective discussion of videos featuring people living with IDD sharing their perspectives and stories. All students then participated in 4 simulated clinical encounters with patient educators (PEs) who have lived experiences of IDD. Focus groups were conducted with students following the simulated encounters to explore their experiences and perceptions of this blended learning activity. Moreover, secondary quantitative data were collected to assess students' performance in the clinical encounters, along with self-reports of comfort, confidence, and competence of interacting with people with IDD (pre- and postparticipation). OUTCOME: All students thought that the blended educational experience was valuable and enjoyable, commenting on the importance of adaptable language and engagement of people with IDD, as well as the merits of reflecting on patient narratives. Students also discussed feelings of discomfort stemming from a lack of knowledge and previous exposure to IDD and how this discomfort might motivate them to learn more and develop their skills further. In addition, descriptive analyses revealed that students in the narrative group showed greater self-rated measures of comfort, confidence, and competence compared to control; they also had higher mean performance scores across all PE interview stations. LESSONS LEARNED: PEs add a powerful real-life dimension to communication skills teaching and have been shown to be a valuable educational modality. Moreover, exposure to and reflection on video-based patient narratives are useful ways of teaching medical students about patients' lived experiences and promoting person-centered communication, both within and beyond IDD.

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.

BACKGROUND: Schizophrenia is a severe psychiatric disorder associated with IQ deficits. Rare copy number variations (CNVs) have been established to play an important role in the etiology of schizophrenia. Several of the large rare CNVs associated with schizophrenia have been shown to negatively affect IQ in population-based controls where no major neuropsychiatric disorder is reported. The aim of this study was to examine the diagnostic yield of microarray testing and the functional impact of genome-wide rare CNVs in a community ascertained cohort of adults with schizophrenia and low (< 85) or average (≥ 85) IQ. METHODS: We recruited 546 adults of European ancestry with schizophrenia from six community psychiatric clinics in Canada. Each individual was assigned to the low or average IQ group based on standardized tests and/or educational attainment. We used rigorous methods to detect genome-wide rare CNVs from high-resolution microarray data. We compared the burden of rare CNVs classified as pathogenic or as a variant of unknown significance (VUS) between each of the IQ groups and the genome-wide burden and functional impact of rare CNVs after excluding individuals with a pathogenic CNV. RESULTS: There were 39/546 (7.1%; 95% confidence interval [CI] = 5.2-9.7%) schizophrenia participants with at least one pathogenic CNV detected, significantly more of whom were from the low IQ group (odds ratio [OR] = 5.01 [2.28-11.03], p = 0.0001). Secondary analyses revealed that individuals with schizophrenia and average IQ had the lowest yield of pathogenic CNVs (n = 9/325; 2.8%), followed by those with borderline intellectual functioning (n = 9/130; 6.9%), non-verbal learning disability (n = 6/29; 20.7%), and co-morbid intellectual disability (n = 15/62; 24.2%). There was no significant difference in the burden of rare CNVs classified as a VUS between any of the IQ subgroups. There was a significantly (p=0.002) increased burden of rare genic duplications in individuals with schizophrenia and low IQ that persisted after excluding individuals with a pathogenic CNV. CONCLUSIONS: Using high-resolution microarrays we were able to demonstrate for the first time that the burden of pathogenic CNVs in schizophrenia differs significantly between IQ subgroups. The results of this study have implications for clinical practice and may help inform future rare variant studies of schizophrenia using next-generation sequencing technologies.

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

PURPOSE: The purpose of the current study was to assess the penetrance of NRXN1 deletions. METHODS: We compared the prevalence and genomic extent of NRXN1 deletions identified among 19,263 clinically referred cases to that of 15,264 controls. The burden of additional clinically relevant copy-number variations (CNVs) was used as a proxy to estimate the relative penetrance of NRXN1 deletions. RESULTS: We identified 41 (0.21%) previously unreported exonic NRXN1 deletions ascertained for developmental delay/intellectual disability that were significantly greater than in controls (odds ratio (OR) = 8.14; 95% confidence interval (CI): 2.91-22.72; P < 0.0001). Ten (22.7%) of these had a second clinically relevant CNV. Subjects with a deletion near the 3' end of NRXN1 were significantly more likely to have a second rare CNV than subjects with a 5' NRXN1 deletion (OR = 7.47; 95% CI: 2.36-23.61; P = 0.0006). The prevalence of intronic NRXN1 deletions was not statistically different between cases and controls (P = 0.618). The majority (63.2%) of intronic NRXN1 deletion cases had a second rare CNV at a prevalence twice as high as that for exonic NRXN1 deletion cases (P = 0.0035). CONCLUSIONS: The results support the importance of exons near the 5' end of NRXN1 in the expression of neurodevelopmental disorders. Intronic NRXN1 deletions do not appear to substantially increase the risk for clinical phenotypes.Genet Med 19 1, 53-61.

Presence with purpose: attitudes of people with developmental disability towards health care students.

CONTEXT: Early clinical encounters help medical and nursing students build professional competencies. However, there is a necessary emphasis on patient autonomy and appropriate consent. Although most individuals do not object to student involvement in clinical encounters, there are occasions when personal preference and health care education conflict. Many studies have evaluated patient attitudes towards students across a variety of specialties. OBJECTIVES: The purpose of this study was to identify the attitudes, comfort level and preferences of individuals with developmental disability (DD) towards the presence and involvement of medical and nursing students during clinical encounters. METHODS: Adults with DD across the Hamilton-Niagara region were invited to participate. Focus groups were moderated by two students with a health care facilitator and physician-educator. Participants were provided with focus group questions in advance and encouraged to bring communication aids or care providers. Data were analysed for emerging themes by two independent reviewers, who then compared results. RESULTS: Twenty-two individuals participated. A wide range of opinions were expressed. Some participants were positively disposed towards students and perceived better care and improved communication with the health care team. Others were indifferent to students in a clinical setting. The final group was opposed to the presence of health care students, expressing confusion over their role and purpose, uneasiness with deviation from the norm, and concerns about confidentiality. Informative introductions with confidentiality statements and the presence of a supervising clinician were seen as helpful. CONCLUSIONS: People with DD are affected by above-average health care needs. Their input into health care planning has been limited. Their opinions on health care learners varied considerably. Themes relating to attitudes, comfort and preferences about student involvement provide impetus for health care training practices that promote person-centred approaches and improvements to the quality of care received by people with DD.