Perceptions of people with intellectual and developmental disabilities about COVID-19 in Spain: a cross-sectional study.

BACKGROUND: As the world battles COVID-19, there is a need to study the perceptions of people with intellectual and developmental disabilities (IDD) about the effects of the pandemic and associated lockdown on their lives. This work explores the perceptions of Spaniards with IDD during the lockdown with respect to four topics: access to information, emotional experiences, effects on living conditions and access to support. METHODS: The topics were explored using a subset of 16 closed-ended questions from an online survey. In total, 582 participants with IDD completed the survey. The frequencies and percentages of responses to the questions were calculated, and chi-square tests performed to explore the relationship between participants' sociodemographic characteristics and responses. Given that people differed in the way in which they completed the survey, the relationship between participants' responses and completion method was also analysed. RESULTS: Participants reported that the pandemic and subsequent lockdown have had a deleterious effect on their emotional well-being (around 60.0% of participants) and occupations (48.0% of students and 72.7% of workers). Although access to information and support was reportedly good overall, being under the age of 21 years and studying were associated with perceptions reflecting poorer access to information (V = .20 and V = .13, respectively) and well-being support (V = .15 and V = .13, respectively). Being supported by a third party to complete the survey was consistently related to perceptions of worse outcomes. CONCLUSIONS: The study yielded data on the perceptions of people with IDD regarding the effects that COVID-19 and the subsequent lockdown have had on their lives. Suggestions on how to overcome the difficulties reported and future lines of research are discussed.

Advances in the assessment of self-determination: internal structure of a scale for people with intellectual disabilities aged 11 to 40.

BACKGROUND: Advances in theoretical frameworks of self-determination require the development of new assessment instruments. This study examines the dimensional structure of a self-determination scale and analyses the factorial invariance of its measurement across age and gender. METHOD: The AUTODDIS Scale was used to assess the self-determination of 541 people with intellectual disabilities aged from 11 to 40. RESULTS: Different models (correlational and hierarchical structures) of the scale were tested. The correlational model obtained from the exploratory structural equation model approach provided the best fit for the data. The results also supported measurement invariance across youths (aged 11 to 21 years) and adults (aged 21 to 40 years) and across genders. CONCLUSIONS: This study contributes to international research on self-determination and the development of assessment tools in this field, offering a better understanding of this multifaceted and complex construct. The results provide construct validity evidence regarding a new measurement tool tested across people aged 11 to 40, using information from third parties. However, further research is needed to explore the best ways to understand and assess the different factors related to self-determination.

The presence of IFL3/4 rs12979860 C allele influences the in vitro IP-10 production by mononuclear cells from patients with systemic lupus erythematosus.

OBJECTIVE: To explore whether the IFNL3/4 rs12979860 genotype may influence serum levels or production of interferon-inducible protein-10 (IP-10) by peripheral blood mononuclear cells from patients with systemic lupus erythematosus (SLE). METHODS: Sixty-six patients with SLE and 22 healthy blood donors (controls) were included. The IFNL3/4 rs12979860 polymorphism was genotyped by real-time polymerase chain reaction. IP-10 levels in sera supernatants of IFNα stimulated peripheral blood mononuclear cells were measured by enzime-linked immunosorbent assay. RESULTS: Allelic frequencies were CC (29%), CT (52%) and TT (20%) in SLE, and CC (32%), CT (41%) and TT (27%) in healthy controls. Median serum IP-10 levels were higher in SLE patients than in controls (190.8 versus 118.1 pg/ml; p < 0.001), particularly in those with high disease activity (278.5 versus 177.2 pg/ml; p = 0.037). However, serum IP-10 levels were not influenced by IFNL3/4 genotypes. Higher IP-10 production by peripheral blood mononuclear cells was found in both SLE patients (median 519.3 versus 207.6 pg/ml; p = 0.012) and controls (median 454.0 versus 201.7 pg/ml; p = 0.034) carrying the IFNL3/4 C allele compared with carriers of the T allele. CONCLUSIONS: Although IFNL3/4 rs12979860 allele C does not appear to influence serum IP-10 levels in SLE, it plays an important role in the production of IP-10 by peripheral blood mononuclear cells after IFNα stimulation.

Assessing support needs in children with intellectual disability and motor impairments: measurement invariance and group differences.

BACKGROUND: This study assessed the equivalence of the measurement of support needs between children with intellectual disability (ID) and children with intellectual and motor disabilities (IMD) and compared both groups in the different domains of support. METHOD: The Supports Intensity Scale-Children's Version was used to assess the support needs of 713 children with ID and 286 children with IMD, mainly associated with cerebral palsy. RESULTS: The results supported measurement invariance between the group of ID and IMD, which allowed to conduct comparison between them. Children with IMD scored higher on support needs than did children without IMD, suggesting that children with IMD needed more support than their peers without motor impairments. Furthermore, the ID levels interacted with motor impairments: at the highest levels of ID, groups tended to be similar in support needs, with high scores and low variability. The greatest differences were found in the domains of Home and Community activities. CONCLUSIONS: This study points to the across-condition of the construct of support needs in populations with intellectual and developmental disabilities. However, additional mobility impairments should be considered during the evaluation and planning of systems of support. In this regard, the Supports Intensity Scale-Children's Version might have limitations when discriminating between samples with high support needs.

Isolated posterior cruciate ligament aplasia: a case report.

Congenital absence of the cruciate ligaments is a very rare condition, with most reported cases being related to the anterior cruciate ligament (ACL). Posterior cruciate ligament (PCL) congenital abnormalities have been described as almost always being associated with other anomalies. We present a case of a patient with lateral knee pain and subjective instability sensation after a low-energy trauma secondary to a lateral meniscus tear, with absence of the PCL on MRI examination and thickened meniscofemoral ligaments, with anterior and superior insertion at the femur, in the footprint of PCL. The patient had a menisci repair, without PCL reconstruction. At the 6-month follow-up, the patient did not report any instability symptoms during his daily work and sports activities. There are therapeutic implications in distinguishing a chronic PCL tear from an aplasia, so it is important to detect some signs in imaging that may guide to differentiate them, as there could be differences in the course and thickness of meniscofemoral ligaments, besides the absence of the entire PCL. To our knowledge, this is the first case of PCL agenesis with arthroscopic correlation.

Venetoclax, bendamustine, and rituximab in patients with relapsed or refractory NHL: a phase Ib dose-finding study.

Background: Venetoclax is a selective, potent inhibitor of the anti-apoptotic B-cell leukemia/lymphoma-2 protein approved for treatment of chronic lymphocytic leukemia. We conducted a dose-finding study of venetoclax in combination with bendamustine-rituximab (BR) in patients with relapsed/refractory non-Hodgkin's lymphoma (NHL). Patients and methods: BR was given for six cycles at standard doses. Intermittent and continuous oral venetoclax administration was explored at 50-1200 mg daily doses. Co-primary objectives included safety, pharmacokinetics (PKs), maximum-tolerated dose (MTD), and recommended phase II dose (RP2D); secondary objective was preliminary efficacy. Results: Sixty patients were enrolled: 32 with follicular lymphoma, 22 with diffuse large B-cell lymphoma, and 6 with marginal zone lymphoma. Nausea (70%), neutropenia (68%), diarrhea (55%), and thrombocytopenia (52%) were the most frequent adverse events (AEs). Most common grade 3/4 AEs were neutropenia (60%) and lymphopenia (38%). Serious AEs were reported in 24 patients; the most frequent were febrile neutropenia and disease progression (8% each). Five patients died from either disease progression (n = 4) or respiratory failure (n = 1). MTD was not reached; RP2D for venetoclax-BR combination was established as 800 mg daily continuously. Venetoclax PK exposure with and without BR was comparable. For all patients, overall response rate was 65%. Median duration of overall response, overall survival, and progression-free survival was 38.3 months [95% confidence interval (CI) 10.4-NR], not yet reached, and 10.7 months (95% CI 4.3-21.0), respectively. Conclusions: This study established the safety profile of venetoclax in combination with BR, and results demonstrated tolerability and preliminary efficacy of the combination. Additional follow-up is needed to better determine the future role of BR plus venetoclax in the treatment of relapsed/refractory B-cell NHL. Trial registered: Clinicaltrials.gov, NCT01594229.

Low-level orientation information for social evaluation in face images.

Observers make a range of social evaluations based on facial appearance, including judgments of trustworthiness, warmth, competence, and other aspects of personality. What visual information do people use to make these judgments? While links have been made between perceived social characteristics and other high-level properties of facial appearance (e.g., attractiveness, masculinity), there has been comparatively little effort to link social evaluations to low-level visual features, like spatial frequency and orientation sub-bands, known to be critically important for face processing. We explored the extent to which different social evaluations depended critically on horizontal orientation energy vs. vertical orientation energy, as is the case for face identification and emotion recognition. We found that while trustworthiness judgments exhibited this bias for horizontal orientations, competence and dominance did not, suggesting that social evaluations may depend on a multi-channel representation of facial appearance at early stages of visual processing.

Moving Beyond Maximum Tolerated Dose for Targeted Oncology Drugs: Use of Clinical Utility Index to Optimize Venetoclax Dosage in Multiple Myeloma Patients.

Exposure-response analyses of venetoclax in combination with bortezomib and dexamethasone in previously treated patients with multiple myeloma (MM) were performed on a phase Ib venetoclax dose-ranging study. Logistic regression models were utilized to determine relationships, identify subpopulations with different responses, and optimize the venetoclax dosage that balanced both efficacy and safety. Bortezomib refractory status and number of prior treatments were identified to impact the efficacy response to venetoclax treatment. Higher venetoclax exposures were estimated to increase the probability of achieving a very good partial response (VGPR) or better through venetoclax doses of 1,200 mg. However, the probability of neutropenia (grade ≥3) was estimated to increase at doses >800 mg. Using a clinical utility index, a venetoclax dosage of 800 mg daily was selected to optimally balance the VGPR or better rates and neutropenia rates in MM patients administered 1-3 prior lines of therapy and nonrefractory to bortezomib.

Effectiveness of a Nintendo Wii balance board exercise programme on standing balance of children with cerebral palsy: A randomised clinical trial protocol.

BACKGROUND: Patients with cerebral palsy (CP) typically receive limited physical therapy services. However, the Nintendo Wii system offers a simple and affordable mode of virtual reality therapy. There are no clinical trials assessing the Nintendo Wii balance board for improving standing balance in CP. METHODS: This randomised clinical trial will evaluate the effectiveness of an 18-session/six-week protocol using Wii therapy (W-t) compared with conventional therapy (C-t) in Chilean CP patients. The C-t group will perform the typical exercises prescribed by physical therapists for 40 min each session. W-t will consist of a virtual reality training session using the Nintendo Wii balance board console for 30 min each session. The primary outcome variable is the area of centre-of-pressure (CoP) sway (CoPSway). The secondary outcomes are the standard deviation (SDML; SDAP) and velocity (VML; VAP) of CoP in the ML and AP directions. For a mean difference of 21.5 cm2 (CoPSway) between the groups, we required a minimum of 16 participants in each group. Data will be collected at baseline (week 0), during the study (weeks 2 and 4), at the end of the study (week 6), and during the follow-up (weeks 8 and 10). Measurements of postural control during quiet standing for both groups will be assessed on a force platform AMTI OR67. DISCUSSION: This is the first trial that measures and compares the effects of a Nintendo Wii Balance Board exercise programme on standing balance in children with cerebral palsy compared to conventional therapy.

Operationalisation of quality of life for adults with severe disabilities.

BACKGROUND: The operationalisation of quality of life for people with more severe disabilities has been acknowledged in the published research for more than two decades. This study aims to contribute to our knowledge and understanding of the quality of life of adults with severe disabilities by developing a set of quality of life indicators appropriate to this population using a Delphi method and the eight-domain conceptual model proposed by Schalock & Verdugo (2002). METHOD: The participating panel in the Delphi method included 12 experts who evaluated each proposed item according to four criteria: suitability, importance, observability and sensitivity. Descriptive analyses were used to select the best items in each of the four rounds of this Delphi study, as well as examining the coefficients of concordance that were calculated for the final pool of items. RESULTS: The four rounds of the Delphi study resulted in a final pool of 118 items (91 that were considered valid in the first round plus 27 items proposed, reformulated or discussed in the following rounds). Importance and sensitivity were the criteria that received the highest and lowest ratings, respectively, but also the ones that had the highest and lowest mean coefficients of concordance. Experts showed the strongest agreement for items related to material well-being, while the weakest was found for items related to personal development. CONCLUSIONS: This study further contributes to our understanding of how to operationalise and measure quality of life in adults with severe disabilities. The item pool generated may prove helpful in the development of instruments for the measurement of quality of life-related outcomes in this population.

Validity and reliability of the INICO-FEAPS Scale: An assessment of quality of life for people with intellectual and developmental disabilities.

This paper documents the validation of a comprehensive scale designed to assess quality-of-life related personal outcomes for people with intellectual and developmental disabilities who receive support in social organizations. The INICO-FEAPS Scale was administered to 1627 people whose ages ranged between 16 and 72 years old. The instrument comprises 72 parallel items organized around eight quality-of-life domains in each of the two forms: a self-report and a report by others. Several internal consistence indexes showed a good reliability of the scale. CFA was used to compare the goodness-of-fit to the data of alternative models. The eight-correlated first-order factors showed the best fit to the data in comparison to the unidimensional solution and hierarchical models. The instrument serves as a helpful tool for organizations to operate as bridges to the community, develop person-centered planning and individualized support, and implement evidence-based practices for quality improvement.

Cross-cultural validation of the Children's Assessment of Participation and Enjoyment (CAPE) in Spain.

BACKGROUND: Despite growing interest in the topic of participation, the construct has not yet been assessed in children and adolescents with and without cerebral palsy (CP) in Spain. As there are no available instruments to measure participation in leisure activities which have been adapted in this country, the goal of this study was to validate a Spanish version of the Children's Assessment of Participation and Enjoyment (CAPE). METHOD: The sample comprised 199 children and adolescents with CP and 199 without CP, between 8 and 18 years of age, from seven regions in Spain. The adaptation of the original version of CAPE was carried out through translation and backward translation, and the validity of the instrument was analysed. Construct validity was assessed through the correlation of the diverse CAPE domains and the quality of life domains (KIDSCREEN questionnaire). Discriminant validity was established by comparing children and adolescents with CP and typically developing children and adolescents. For test-retest reliability, the children and adolescents with and without CP completed the CAPE questionnaire twice within 4 weeks. RESULTS: The correlations found between the CAPE domains and the quality of life domains show that the CAPE presents construct validity. The CAPE discriminated children and adolescents with CP from those without any disability in the results of participation. According to most CAPE domains, typically developing children and adolescents engage in a greater number of activities than children and adolescents with CP. Test-retest reliability for the Spanish version of CAPE was adequate. CONCLUSION: The study provides a valid instrument to assess the participation of children and adolescents with and without CP who live in Spain.

Microtubule organization and L-type voltage-activated calcium current in olfactory neuronal cells obtained from patients with schizophrenia and bipolar disorder.

Olfactory neuroepithelial cells in culture have been proposed as a model to study the physiopathology of psychiatric disorders and biomarker characterization for diagnosis. In patients with schizophrenia (SZ) and bipolar disorder (BD) diminished microtubule-associated proteins expression occurs, which might lead to aberrant microtubular organization and which in turn may affect Ca(2+) voltage-activated currents. The aim of this work was to characterize of microtubule organization as well as of the L-type Ca(2+) current in neuronal precursors obtained from nasal exfoliates of patients with SZ and BD. Microtubule organization was studied by immunofluorescence with a specific anti-III ß-tubulin antibody and by quantification of globular and assembled tubulin by Western blot. L-type current recording was performed by whole-cell patch-clamp technique and nifedipine superfusion. The results showed differential altered microtubular organization in neuronal precursors of SZ and BD. Short microtubules were observed in BD neurons, while extensive, unstained subcellular areas and disorganized microtubules were evident in SZ neuronal precursors. Patients with BD showed a decrease in amounts of tubulin in total homogenates and 40% decrease in the globular fraction. However, L-type current in BD was similar to that in healthy subjects (HS). In contrast, this current in SZ was 50% lower. These reduction in L-type current in SZ together with differential microtubule alterations are potential biomarkers that may differentiates SZ and BD.

Patterns and determinants of leisure participation of youth and adults with developmental disabilities.

BACKGROUND: People with developmental disabilities are at high risk for a limited participation in leisure activities. The aim of this study was to investigate the participation in, preference for and interest in leisure activities of young and adults with developmental disabilities, and to examine the factors associated with leisure activity. METHODS: A cross-sectional design was used with a convenience sample of 237 people aged 17 to 65, living in the community. Leisure participation was assessed with the Spanish version of Leisure Assessment Inventory. Percentages were calculated by types of activity, and repeated measures anovas were used to analyse the differences between types of activities, and mixed anovas to analyse the factors that explain differences in leisure activity participation, preference and interest. RESULTS: Leisure social activities and recreation activities at home were mostly solitary and passive in nature and were identified as those being most commonly engaged in. Respondents expressed preference for more social and physical activity, and they were interested in trying out a large number of physical activities. Age and type of schooling determine participation in leisure activity. The results underscore the differences in leisure activity participation, preference and interest depending on the severity of the disability. CONCLUSIONS: The findings reveal interesting patterns of participation in leisure activities from the viewpoint of youngsters and adults with developmental disabilities. Leisure participation among people with developmental disabilities is likely to be more affected by environmental factors than by personal factors.

The concept of quality of life and its role in enhancing human rights in the field of intellectual disability.

BACKGROUND: The changed societal views of persons with disabilities are reflected in the 2006 United Nations Convention on the Rights of Persons with Disabilities. However, what is not specified in the Convention is how to operationalise and measure the Articles composing the Convention, and how to use that information to further enhance the human rights of persons with disabilities. METHOD: The authors analyse the relationships between eight core quality of life domains and the 34 Articles contained in the Convention. RESULTS: There is a close relationship between the core quality of life domains and the 34 Articles contained in the Convention. Furthermore, the current status of these Articles can be evaluated through the assessment of indicators associated with the eight core quality of life domains. CONCLUSIONS: Based on the assessment of these quality of life-related outcomes, three strategies can be used to enhance the human rights of persons with intellectual disability. These three are to employ person-centred planning, publish provider profiles and implement a system of support.