Digital adaptation of the Standing up for Myself intervention in young people and adults with intellectual disabilities: the STORM feasibility study.

Background: Stigma contributes to the negative social conditions persons with intellectual disabilities are exposed to, and it needs tackling at multiple levels. Standing Up for Myself is a psychosocial group intervention designed to enable individuals with intellectual disabilities to discuss stigmatising encounters in a safe and supportive setting and to increase their self-efficacy in managing and resisting stigma. Objectives: To adapt Standing Up for Myself to make it suitable as a digital intervention; to evaluate the feasibility and acceptability of Digital Standing Up for Myself and online administration of outcome measures in a pilot; to describe usual practice in the context of the coronavirus disease 2019 pandemic to inform future evaluation. Design: Adaptation work followed by a single-arm pilot of intervention delivery. Setting and participants: Four third and education sector organisations. Individuals with mild-to-moderate intellectual disabilities, aged 16+, members of existing groups, with access to digital platforms. Intervention: Digital Standing Up for Myself intervention. Adapted from face-to-face Standing Up for Myself intervention, delivered over four weekly sessions, plus a 1-month follow-up session. Outcomes: Acceptability and feasibility of delivering Digital Standing Up for Myself and of collecting outcome and health economic measures at baseline and 3 months post baseline. Outcomes are mental well-being, self-esteem, self-efficacy in rejecting prejudice, reactions to discrimination and sense of social power. Results: Adaptation to the intervention required changes to session duration, group size and number of videos; otherwise, the content remained largely the same. Guidance was aligned with digital delivery methods and a new group member booklet was produced. Twenty-two participants provided baseline data. The intervention was started by 21 participants (four groups), all of whom were retained at 3 months. Group facilitators reported delivering the intervention as feasible and suggested some refinements. Fidelity of the intervention was good, with over 90% of key components observed as implemented by facilitators. Both facilitators and group members reported the intervention to be acceptable. Group members reported subjective benefits, including increased confidence, pride and knowing how to deal with difficult situations. Digital collection of all outcome measures was feasible and acceptable, with data completeness ≥ 95% for all measures at both time points. Finally, a picture of usual practice has been developed as an intervention comparator for a future trial. Limitations: The pilot sample was small. It remains unclear whether participants would be willing to be randomised to a treatment as usual arm or whether they could be retained for 12 months follow-up. Conclusions: The target number of groups and participants were recruited, and retention was good. It is feasible and acceptable for group facilitators with some training and supervision to deliver Digital Standing Up for Myself. Further optimisation of the intervention is warranted. Future work: To maximise the acceptability and reach of the intervention, a future trial could offer the adapted Digital Standing Up for Myself, potentially alongside the original face-to-face version of the intervention. Study registration: This study was registered as ISRCTN16056848. Funding: This award was funded by the National Institute for Health and Care Research (NIHR) Public Health Research programme (NIHR award ref: 17/149/03) and is published in full in Public Health Research; Vol. 12, No. 1. See the NIHR Funding and Awards website for further award information.

People with intellectual disabilities (or 'learning disabilities' in United Kingdom language) are more likely to experience poor physical and mental health than the general population. Stigma (negative stereotypes, prejudice and discrimination) has been linked to lower self-esteem, quality of life, and mental and physical ill health. Efforts to empower people with intellectual disabilities themselves to challenge stigma with a view to improving well-being, health and self-esteem are lacking. In 2017, we developed Standing Up for Myself, a brief group-based programme for people with mild-to-moderate intellectual disabilities aged 16+ to address this gap. As this study got underway, face-to-face meetings were suspended due to the coronavirus disease 2019 pandemic. We used the opportunity to assess whether Standing Up for Myself could be delivered through web-based meetings. We adapted Standing Up for Myself for digital delivery, with close input from advisors with intellectual disabilities and experienced group facilitators. We then tested the digital version in charity and education settings to evaluate if Digital Standing Up for Myself could be delivered as planned and how acceptable it was to group facilitators and participants. Four groups, with a total of 22 members, signed up to try Digital Standing Up for Myself. One participant dropped out before starting Standing Up for Myself, and the other 21 continued until the end of the programme. Retention and attendance were good; participants on average attended four of the five sessions. Ninety per cent of the core programme requirements were fully delivered as detailed in the Digital Standing Up for Myself manual. Problems with technology were manageable, although facilitators found using the Standing Up for Myself Wiki platform (an online platform for storage and sharing of resources) difficult, particularly when sharing video content. Facilitators felt acceptable levels of privacy were achieved and there were no reports of undue distress. All facilitators and many group members said they would recommend Digital Standing Up for Myself to others. Group members shared how the programme benefitted them, noting increased awareness about disabilities, and for some increased confidence, pride and independence. Some had learnt how to stand up for themselves and manage difficult situations and took pride in this. Completing outcome and health cost measures via web-based meetings was acceptable and data were largely fully complete and useable.

Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive hereditary cancer condition, characterized by an exceptionally high risk of cancer, a propensity for childhood malignancies, and cutaneous features reminiscent of neurofibromatosis type 1 (NF1). We report on two sisters originally suspected of having CMMRD syndrome due to their history of colonic polyps and NF1 associated skin findings, both were subsequently found to have biallelic MSH6 mutations. After years of CMMRD syndrome follow-up, the proband was diagnosed with breast cancer at age 29, while her sister was diagnosed with a glioblastoma at age 27. Immunohistochemistry analysis on the breast tumor tissue revealed weak MSH6 protein staining. Exome sequencing revealed a hypermutated breast tumor and an ultra-hypermutated brain tumor. Multi-gene panel testing was also performed and revealed no additional mutations which might explain the proband's early onset breast cancer. This is the first documented case of breast cancer in an individual with CMMRD syndrome. We summarize the evidence supporting the possible association between breast cancer and biallelic MMR mutations. Healthcare providers should be aware of this possible association and follow-up appropriately for suspicious breast findings. In addition, this case highlights the need for frequent central nervous system screenings due to rapid progression of brain tumors.

Association of Vitamin D Receptor Polymorphisms With the Risk of Nonmelanoma Skin Cancer in Adults.

IMPORTANCE: Protective effects of UV-B radiation against nonmelanoma skin cancer (NMSC) are exerted via signaling mechanisms involving the vitamin D receptor (VDR). Recent studies have examined single-nucleotide polymorphisms (SNPs) in the VDR, resulting in contradictory findings as to whether these polymorphisms increase a person's risk for NMSC. OBJECTIVE: To examine whether the polymorphisms in the VDR gene are associated with the development of NMSC and the demographic characteristics of the participants. DESIGN, SETTING, AND PARTICIPANTS: This case-control study recruited 100 individuals who received a diagnosis of and were being treated for basal cell carcinoma or squamous cell carcinoma (cases) and 100 individuals who were receiving treatment of a condition other than skin cancer (controls) at the dermatology clinics at the Kirklin Clinic of the University of Alabama at Birmingham Hospital between January 1, 2012, and December 31, 2014. All participants completed a questionnaire that solicited information on skin, hair, and eye color; skin cancer family history; and sun exposure history, such as tanning ability and number of severe sunburns experienced throughout life. Blood samples for DNA genotyping were collected from all participants. MAIN OUTCOMES AND MEASURES: Polymorphisms in the VDR gene (ApaI, BsmI, and TaqI) were assessed to determine the association of polymorphisms with NMSC development and demographic characteristics. χ2 Analysis was used to determine whether genotype frequencies deviated significantly from Hardy-Weinberg equilibrium. Logistic regression was used to calculate odds ratios (ORs) and associated 95% CIs for the identification of factors associated with NMSC diagnosis. A model was created to predict NMSC diagnoses using known risk factors and, potentially, VDR SNPs. RESULTS: A total of 97 cases and 100 controls were included. Of the 97 cases, 68 (70%) were men and 29 (30%) were women, with a mean (SD) age of 70 (11) years. Of the 100 controls, 46 (46%) were men and 54 (54%) were women, with a mean (SD) age of 63 (9) years. All participants self-identified as non-Hispanic white. A model including age, sex, and skin color was created to most effectively predict the incidence of skin cancer. Risk factors that significantly increased the odds of an NMSC diagnosis were light skin color (OR, 5.79 [95% CI, 2.79-11.99]), greater number of severe sunburns (OR, 2.59 [95% CI, 1.31-5.10]), light eye color (OR, 2.47 [95% CI, 1.30-4.67]), and less of an ability to tan (OR, 2.35 [95% CI, 1.23-4.48]). The risk factors of family history of NMSC (OR, 1.66 [95% CI, 0.90-3.07]) and light hair color (OR, 1.17 [95% CI, 0.51-2.71]) did not reach statistical significance. Participants with the BsmI SNP were twice as likely to develop NMSC than participants with no mutation (OR, 2.04 [95% CI, 1.02-4.08]; P = .045). CONCLUSIONS AND RELEVANCE: The results of this study are especially useful in the early treatment and prevention of NMSC with chemopreventive agents (for those with the BsmI SNP). A screening for the BsmI SNP may emphasize the importance of sun protection and facilitate skin cancer prevention and, therefore, decrease the skin cancer burden.

Cervical spine evaluation and clearance in the intoxicated patient: A prospective Western Trauma Association Multi-Institutional Trial and Survey.

BACKGROUND: Intoxication often prevents clinical clearance of the cervical spine (Csp) after trauma leading to prolonged immobilization even with a normal computed tomography (CT) scan. We evaluated the accuracy of CT at detecting clinically significant Csp injury, and surveyed participants on related opinions and practice. METHODS: A prospective multicenter study (2013-2015) at 17 centers. All adult blunt trauma patients underwent structured clinical examination and imaging including a Csp CT, with follow-up thru discharge. alcohol- and drug-intoxicated patients (TOX+) were identified by serum and/or urine testing. Primary outcomes included the incidence and type of Csp injuries, the accuracy of CT scan, and the impact of TOX+ on the time to Csp clearance. A 36-item survey querying local protocols, practices, and opinions in the TOX+ population was administered. RESULTS: Ten thousand one hundred ninety-one patients were prospectively enrolled and underwent CT Csp during the initial trauma evaluation. The majority were men (67%), had vehicular trauma or falls (83%), with mean age of 48 years, and mean Injury Severity Score (ISS) of 11. The overall incidence of Csp injury was 10.6%. TOX+ comprised 30% of the cohort (19% EtOH only, 6% drug only, and 5% both). TOX+ were significantly younger (41 years vs. 51 years; p < 0.01) but with similar mean Injury Severity Score (11) and Glasgow Coma Scale score (13). The TOX+ cohort had a lower incidence of Csp injury versus nonintoxicated (8.4% vs. 11.5%; p < 0.01). In the TOX+ group, CT had a sensitivity of 94%, specificity of 99.5%, and negative predictive value (NPV) of 99.5% for all Csp injuries. For clinically significant injuries, the NPV was 99.9%, and there were no unstable Csp injuries missed by CT (NPV, 100%). When CT Csp was negative, TOX+ led to longer immobilization versus sober patients (mean, 8 hours vs. 2 hours; p < 0.01), and prolonged immobilization (>12 hrs) in 25%. The survey showed marked variations in protocols, definitions, and Csp clearance practices among participating centers, although 100% indicated willingness to change practice based on these data. CONCLUSION: For intoxicated patients undergoing Csp imaging, CT scan was highly accurate and reliable for identifying clinically significant spine injuries, and had a 100% NPV for identifying unstable injuries. CT-based clearance in TOX+ patients appears safe and may avoid unnecessary prolonged immobilization. There was wide disparity in practices, definitions, and opinions among the participating centers. LEVEL OF EVIDENCE: Diagnostic tests or criteria, level II.

Cervical spinal clearance: A prospective Western Trauma Association Multi-institutional Trial.

BACKGROUND: For blunt trauma patients who have failed the NEXUS (National Emergency X-Radiography Utilization Study) low-risk criteria, the adequacy of computed tomography (CT) as the definitive imaging modality for clearance remains controversial. The purpose of this study was to prospectively evaluate the accuracy of CT for the detection of clinically significant cervical spine (C-spine) injury. METHODS: This was a prospective multicenter observational study (September 2013 to March 2015) at 18 North American trauma centers. All adult (≥18 years old) blunt trauma patients underwent a structured clinical examination. NEXUS failures underwent a CT of the C-spine with clinical follow-up to discharge. The primary outcome measure was sensitivity and specificity of CT for clinically significant injuries requiring surgical stabilization, halo, or cervical-thoracic orthotic placement using the criterion standard of final diagnosis at the time of discharge, incorporating all imaging and operative findings. RESULTS: Ten thousand seven hundred sixty-five patients met inclusion criteria, 489 (4.5%) were excluded (previous spinal instrumentation or outside hospital transfer); 10,276 patients (4,660 [45.3%] unevaluable/distracting injuries, 5,040 [49.0%] midline C-spine tenderness, 576 [5.6%] neurologic symptoms) were prospectively enrolled: mean age, 48.1 years (range, 18-110 years); systolic blood pressure 138 (SD, 26) mm Hg; median, Glasgow Coma Scale score, 15 (IQR, 14-15); Injury Severity Score, 9 (IQR, 4-16). Overall, 198 (1.9%) had a clinically significant C-spine injury requiring surgery (153 [1.5%]) or halo (25 [0.2%]) or cervical-thoracic orthotic placement (20 [0.2%]). The sensitivity and specificity for clinically significant injury were 98.5% and 91.0% with a negative predictive value of 99.97%. There were three (0.03%) false-negative CT scans that missed a clinically significant injury, all had a focal neurologic abnormality on their index clinical examination consistent with central cord syndrome, and two of three scans showed severe degenerative disease. CONCLUSIONS: For patients requiring acute imaging for their C-spine after blunt trauma, CT was effective for ruling out clinically significant injury with a sensitivity of 98.5%. For patients with an abnormal neurologic examination as the trigger for imaging, there is a small but clinically significant incidence of a missed injury, and further imaging with magnetic resonance imaging is warranted. LEVEL OF EVIDENCE: Diagnostic tests, level II.

Evaluation of Cervical Spine Clearance by Computed Tomographic Scan Alone in Intoxicated Patients With Blunt Trauma.

IMPORTANCE: Current trauma guidelines dictate that the cervical spine should not be cleared in intoxicated patients, resulting in prolonged immobilization or additional imaging. Modern computed tomography (CT) technology may obviate this and allow for immediate clearance. OBJECTIVE: To analyze cervical spine clearance practices and the utility of CT scans of the cervical spine in intoxicated patients with blunt trauma. DESIGN, SETTING, AND PARTICIPANTS: We performed a prospective observational study of 1668 patients with blunt trauma aged 18 years and older who underwent cervical spine CT scans from March 2014 to March 2015 at an American College of Surgeons-verified Level I trauma center. Intoxication was determined by serum alcohol levels and urine drug screens. Physical examination and CT scan findings were evaluated for cervical spine injuries (CSI) and the incidence of missed injuries. MAIN OUTCOMES AND MEASURES: Clinically relevant CSIs requiring cervical stabilization. The hypotheses formed prior to data collection were that cervical CT scans are sensitive and specific enough to diagnose CSIs that require stabilization and that normal CT scans are sufficient to clear CSIs in intoxicated patients. RESULTS: Of 1668 patients, 1103 (66.1%) were male, with a mean (SD) age of 49 (20) years and a mean (SD) Injury Severity Score of 10 (9). Vehicular (734 [44.0%]) and falls (579 [34.7%]) were the most common mechanisms for hospitalization. Intoxication was identified in 632 of 1429 of patients tested (44.2%; 425 [29.7%] by serum alcohol levels and 350 [24.5%] by urine drug screens). Half (316 [50.0%]) were admitted with cervical spine immobilization, and 38 (12%) of these were solely owing to the presence of intoxication. There were 65 abnormal CT scans (10.3%) in the intoxicated group. Among 567 normal CT scans, 4 (0.7%) had central cord syndrome found on initial physical examination, and 1 (0.2%) had a symptomatic unstable ligament injury that was misread as normal on CT scan but was abnormal on magnetic resonance imaging. The 316 patients kept in a cervical collar for intoxication had no missed CSIs but were kept immobilized for a mean (SD) of 12 (19) hours. Computed tomographic scans had an overall negative predictive value of 99.2% for patients with CSIs and a negative predictive value of 99.8% for ruling out CSIs that required immobilization or stabilization. CONCLUSIONS AND RELEVANCE: In this study, alcohol or drug intoxication was common and resulted in significant delays to cervical spine clearance. Computed tomographic scans were highly reliable for identifying all clinically significant CSIs. Spine clearance based on a normal CT scan among intoxicated patients with no gross motor deficits appears to be safe and avoids prolonged and unnecessary immobilization.