Strategies to decrease inequalities in cancer therapeutics, care and prevention: Proceedings on a conference organized by the Pontifical Academy of Sciences and the European Academy of Cancer Sciences, Vatican City, February 23-24, 2023.

Analyses of inequalities related to prevention and cancer therapeutics/care show disparities between countries with different economic standing, and within countries with high Gross Domestic Product. The development of basic technological and biological research provides clinical and prevention opportunities that make their implementation into healthcare systems more complex, mainly due to the growth of Personalized/Precision Cancer Medicine (PCM). Initiatives like the USA-Cancer Moonshot and the EU-Mission on Cancer and Europe's Beating Cancer Plan are initiated to boost cancer prevention and therapeutics/care innovation and to mitigate present inequalities. The conference organized by the Pontifical Academy of Sciences in collaboration with the European Academy of Cancer Sciences discussed the inequality problem, dependent on the economic status of a country, the increasing demands for infrastructure supportive of innovative research and its implementation in healthcare and prevention programs. Establishing translational research defined as a coherent cancer research continuum is still a challenge. Research has to cover the entire continuum from basic to outcomes research for clinical and prevention modalities. Comprehensive Cancer Centres (CCCs) are of critical importance for integrating research innovations to preclinical and clinical research, as for ensuring state-of-the-art patient care within healthcare systems. International collaborative networks between CCCs are necessary to reach the critical mass of infrastructures and patients for PCM research, and for introducing prevention modalities and new treatments effectively. Outcomes and health economics research are required to assess the cost-effectiveness of new interventions, currently a missing element in the research portfolio. Data sharing and critical mass are essential for innovative research to develop PCM. Despite advances in cancer research, cancer incidence and prevalence is growing. Making cancer research infrastructures accessible for all patients, considering the increasing inequalities, requires science policy actions incentivizing research aimed at prevention and cancer therapeutics/care with an increased focus on patients' needs and cost-effective healthcare.

Emergence of Treadmill Running Ability and Quantitative Assessment of Gait Dynamics in Young Ts65Dn Mice: A Mouse Model for Down Syndrome.

Down syndrome (DS), which results from the complete or partial trisomy of chromosome 21 (trisomy-21), is the most common genetically defined cause of intellectual disability. Trisomy-21 also produces, or is associated with, many neurodevelopmental phenotypes and neurological comorbidities, including delays and deficits in fine and gross motor development. The Ts65Dn mouse is the most studied animal model for DS and displays the largest known subset of DS-like phenotypes. To date, however, only a small number of developmental phenotypes have been quantitatively defined in these animals. Here, we used a commercially available high-speed, video-based system to record and analyze the gait of Ts65Dn and euploid control mice. Longitudinal treadmill recordings were performed from p17 to p35. One of the main findings was the detection of genotype- and sex-dependent developmental delays in the emergence of consistent, progressive-intensity gait in Ts65Dn mice when compared to control mice. Gait dynamic analysis showed wider normalized front and hind stances in Ts65Dn mice compared to control mice, which may reflect deficits in dynamic postural balance. Ts65Dn mice also displayed statistically significant differences in the variability in several normalized gait measures, which were indicative of deficits in precise motor control in generating gait.

Algunas desigualdades sociodemográficas de la tuberculosis entre las regiones geográficas de Cuba / Some sociodemographic inequalities of tuberculosis among the geographic regions in Cuba

Introducción: El estudio de la ocurrencia de la tuberculosis en los territorios geográficos es importante para guiar a los decisores en las intervenciones diferenciadas. Objetivo: Evaluar las desigualdades en la ocurrencia de tuberculosis y de algunas variables sociodemográficas individuales entre las regiones geográficas cubanas. Métodos: Estudio ecológico de series temporales combinado con un estudio descriptivo sobre el número de casos y las tasas de incidencia de tuberculosis en Occidente, Centro y Oriente. Obtuvimos la información de la base de datos nacional de vigilancia de tuberculosis. Calculamos las tasas de incidencia y sus medias geométricas, la menor fue referencia para calcular las diferencias absolutas y relativas. Estimamos las tendencias de las incidencias regionales y las proporciones de algunas variables individuales. Resultados: La región oriental mostró la menor media geométrica de las tasas (5,2) y fue la referencia: su tendencia resultó descendente con reducción total de 22,6 %. En la incidencia predominaron los hombres de 15-64 años en las tres regiones (63,8 %). Los menores de 15 años estuvieron entre 0,4-1,3 %. La región oriental presentó menos defunciones (25,9 %). La occidental aportó 44,2 % de la tuberculosis pulmonar y 46,3 % del diagnóstico bacteriológico. Conclusiones: La región occidental presentó las desigualdades más importantes y mayor riesgo en la ocurrencia de tuberculosis. Se debe profundizar en el análisis de los determinantes individuales posiblemente relacionados y realizar intervenciones diferenciadas.

Introduction: The study of the occurrence of tuberculosis in the geographic territories is important to guide decision-makers in the differentiated interventions. Objective: To identify inequalities in the occurrence of tuberculosis and evaluate some individual sociodemographic variables among the geographic regions in Cuba. Methods: Ecological time series study combined with a descriptive study on the number of cases and the incidence rate of tuberculosis in the western, central and eastern regions. We gathered data from the national tuberculosis surveillance database. The incidence rate and the geometric means were calculated, the lowest was the reference to calculate absolute and relative differences. We estimated the regional incidence trends and the proportions of some individual variables. Results: The eastern region showed the lowest geometric mean of the rates (5.2) and was the reference. It had a downward trend, with a total reduction of 22.6%. Men aged 15-64 years prevailed in the three regions (63.8%). Those under 15 years of age were between 0.4% and 1.3%. The eastern region had the fewest deaths (25.9%). The western region accounted for 44.2% of pulmonary tuberculosis cases and 46.3% of bacteriological diagnoses. Conclusions: The Western region had the most significant inequalities and a higher risk of tuberculosis. It should be further analyzed the probable relationship among individual determinants and carry out differentiated interventions.

Self-Awareness Multilevel Assessment Scale (SAMAS): psychometric analysis of inter-rater reliability.

BACKGROUND: Severe acquired brain injury (sABI) frequently causes impairment in self-awareness (ISA), leading to reduced patients' compliance to treatment, worse functional outcome, and high caregiver distress. Self-awareness (SA) is a multilevel and complex function that, as such, requires a specific and effective assessment. To date, many tools are available to evaluate the declarative, but not emergent and anticipatory levels of awareness, therefore the Self-Awareness Multilevel Assessment Scale (SAMAS) was recently proposed. The new tool proved to be useful to assess SA at different levels across all domains of functioning (motor, cognitive, psycho-behavioural, etc.) because it measures not only the declarative SA, but also emergent and anticipatory levels of SA, thus overcoming some important limits of other current assessment methods. AIM: This study evaluated the inter-rater reliability (IRR) of the SAMAS. METHODS: Four professionals blind to each other evaluated 12 patients with sABI. Each patient was rated by two professionals. RESULTS: Inter-rater reliability was moderate-to-excellent, adding evidence in support of the use of SAMAS to specifically diagnose ISA after sABI. CONCLUSIONS: The SAMAS can help to better address neurorehabilitation, as it allows assessing ISA as early as possible, at all possible levels of awareness and functional domains.

Feasibility and Acceptability of an Asthma App to Monitor Medication Adherence: Mixed Methods Study.

BACKGROUND: Poor medication adherence is a major challenge in asthma, and objective assessment of inhaler adherence is needed. The InspirerMundi app aims to monitor adherence while providing a positive experience through gamification and social support. OBJECTIVE: This study aimed to evaluate the feasibility and acceptability of the InspirerMundi app to monitor medication adherence in adolescents and adults with persistent asthma (treated with daily inhaled medication). METHODS: A 1-month mixed method multicenter observational study was conducted in 26 secondary care centers from Portugal and Spain. During an initial face-to-face visit, physicians reported patients' asthma therapeutic plan in a structured questionnaire. During the visits, patients were invited to use the app daily to register their asthma medication intakes. A scheduled intake was considered taken when patients registered the intake (inhaler, blister, or other drug formulation) by using the image-based medication detection tool. At 1 month, patients were interviewed by phone, and app satisfaction was assessed on a 1 (low) to 5 (high) scale. Patients were also asked to point out the most and least preferred app features and make suggestions for future app improvements. RESULTS: A total of 107 patients (median 27 [P25-P75 14-40] years) were invited, 92.5% (99/107) installed the app, and 73.8% (79/107) completed the 1-month interview. Patients interacted with the app a median of 9 (P25-P75 1-24) days. At least one medication was registered in the app by 78% (77/99) of patients. A total of 53% (52/99) of participants registered all prescribed inhalers, and 34% (34/99) registered the complete asthma therapeutic plan. Median medication adherence was 75% (P25-P75 25%-90%) for inhalers and 82% (P25-P75 50%-94%) for other drug formulations. Patients were globally satisfied with the app, with 75% (59/79) scoring ≥4,; adherence monitoring, symptom monitoring, and gamification features being the most highly scored components; and the medication detection tool among the lowest scored. A total of 53% (42/79) of the patients stated that the app had motivated them to improve adherence to inhaled medication and 77% (61/79) would recommend the app to other patients. Patient feedback was reflected in 4 major themes: medication-related features (67/79, 85%), gamification and social network (33/79, 42%), symptom monitoring and physician communication (21/79, 27%), and other aspects (16/79, 20%). CONCLUSIONS: The InspirerMundi app was feasible and acceptable to monitor medication adherence in patients with asthma. Based on patient feedback and to increase the registering of medications, the therapeutic plan registration and medication detection tool were redesigned. Our results highlight the importance of patient participation to produce a patient-centered and engaging mHealth asthma app.

ESO-ESMO Masterclass in Clinical Oncology: Analysis and Evaluation of the Learning Self-Assessment Test.

Masterclass in Clinical Oncology (MCO) represents the "key educational event" of European School of Oncology's (ESO) teaching program. MCO in collaboration with European Society for Medical Oncology (ESMO) is a multidisciplinary and clinical oriented educational event offered mainly to young oncologists worldwide. It provides full immersion in oncology with clinical case presentations and a Learning Self-Assessment Test (LSAT).LSAT is consisting of 45 multiple choice questions on an electronic platform referring to the material taught during the MCO. Three questions related to their topics are requested in advance from each faculty member. The major intentions of LSAT are the following: (a) the learning reflection of the massive information given during 4-5 days of intensive teaching and (b) to offer the opportunity to the participants to prepare themselves for their National Boards or for ESMO examination.In this article, we are analyzing and evaluating the results of LSAT from the ESO-ESMO Central European MCOs. We used the information of Central European MCOs for analysis due to the homogeneity of the available data. We assessed the level of participants' knowledge in relation to their oncology specialty or to their country of origin and the level of the quality of faculty teaching.

Monitoring Adherence to Asthma Inhalers Using the InspirerMundi App: Analysis of Real-World, Medium-Term Feasibility Studies.

Background: Poor medication adherence is a major challenge in asthma and objective assessment of inhaler adherence is needed. InspirerMundi app aims to monitor inhaler adherence while turning it into a positive experience through gamification and social support. Objective: We assessed the medium-term feasibility of the InspirerMundi app to monitor inhaler adherence in real-world patients with persistent asthma (treated with daily inhaled medication). In addition, we attempted to identify the characteristics of the patients related to higher app use. Methods: Two real-world multicenter observational studies, with one initial face-to-face visit and a 4-month telephone interview, were conducted in 29 secondary care centers from Portugal. During an initial face-to-face visit, patients were invited to use the app daily to register their asthma medication intakes. A scheduled intake was considered taken when patients took a photo of the medication (inhaler, blister, or others) using the image-based medication detection tool. Medication adherence was calculated as the number of doses taken as a percentage of the number scheduled. Interacting with the app ≥30 days was used as the cut-off for higher app use. Results: A total of 114 patients {median 20 [percentile 25 to percentile 75 (P25-P75) 16-36] years, 62% adults} were invited, 107 (94%) installed the app and 83 (73%) completed the 4-month interview. Patients interacted with the app for a median of 18 [3-45] days, translated on a median use rate of 15 [3-38]%. Median inhaler adherence assessed through the app was 34 [4-73]% when considering all scheduled inhalations for the study period. Inhaler adherence assessed was not significantly correlated with self-reported estimates. Median adherence for oral and other medication was 41 [6-83]% and 43 [3-73]%, respectively. Patients with higher app use were slightly older (p = 0.012), more frequently taking medication for other health conditions (p = 0.040), and more frequently prescribed long-acting muscarinic antagonists (LAMA, p = 0.024). After 4 months, Control of Allergic Rhinitis and Asthma Test (CARAT) scores improved (p < 0.001), but no differences between patients interacting with the app for 30 days or less were seen. Conclusions: The InspirerMundi app was feasible to monitor inhaler adherence in patients with persistent asthma. The persistent use of this mHealth technology varies widely. A better understanding of characteristics related to higher app use is still needed before effectiveness studies are undertaken.

The Self-Awareness Multilevel Assessment Scale, a New Tool for the Assessment of Self-Awareness After Severe Acquired Brain Injury: Preliminary Findings.

Self-awareness (SA) is frequently impaired after severe acquired brain injury (sABI) and may lead to reduced subject's compliance to treatment, worse functional outcome, and high caregiver distress. Considering the multifaceted nature of SA, a specific and effective assessment is crucial to address treatment of impairment of SA (ISA). Many tools can currently assess ISA; however, they have some important limits. In the present study, we proposed the Self-Awareness Multilevel Assessment Scale (SAMAS), a new scale for assessment of SA at different levels (i.e., declarative, emergent, and anticipatory) across all domains of functioning. The SAMAS has been designed to be administered by the cognitive/behavioral therapist with the involvement of a patient's relative. Findings showed that the SAMAS allowed specifically assessing SA at a declarative level and on all possible functional domains. More interestingly, it seems also able to assess both emergent and anticipatory SA, thus overcoming some important limits of other current assessment methods. Our findings are consistent with a holistic perspective of the patient with sABI because thanks to the combined use of assessing tools, the SAMAS can provide an accurate diagnosis of ISA, thus better addressing the neurorehabilitation treatment and, accordingly, reducing the possible occurrence of its primary and secondary implications.

The clinical training centers fellowships: a European School of Oncology career development program (2013-2019).

Aim: This article refers to the European School of Oncology Clinical Training Centers (CTCs) program, which is a granted Fellowships program dedicated to young oncologists in training. Materials & methods: A total of 74 fellowships were offered by several CTCs during the last 7 years. Candidates were enrolled for 3-6 months of training rotations as fellows or observers in more than 30 training programs in well known Cancer Centers around Europe. Fellowships were covering medical, surgical, radiation and pediatric oncology specialties, laboratory diagnostic training and experimental, translational and clinical research. Fellows originated from Europe, Latin America and Mediterranean Africa. Results: Analysis of the questionnaire assessment showed that 95.5% of the fellows evaluated CTC programs with an 'excellent' or 'very good' score, while 100% declare that they had reached their objectives. Conclusion: The European School of Oncology CTC program designed for an additional practical education abroad meets the needs of young oncologists.

Noninvasive assessment of autonomic modulation of heart rate variability in the Ts65Dn mouse model of Down syndrome: A proof of principle study.

INTRODUCTION: The Ts65Dn mouse is the most widely used animal model of Down syndrome (DS). Differences in autonomic regulation of heart rate variability (HRV) in individuals with DS have been hypothesized. Pharmacological studies in animal models may help us understand mechanisms underlying observed changes in HRV in people with DS. OBJECTIVE: To investigate the use a new, noninvasive technique to assess cardiac autonomic modulation in Ts65Dn mice under the effect of adrenergic and cholinergic agonists. METHOD: We recorded electrocardiograms (ECGs) from 12 Ts65Dn and 12 euploid control mice. A 30-min baseline recording was followed by the injection of an adrenergic (isoproterenol [Iso]) or cholinergic (carbachol [CCh]) agonist. Heart rate and HRV were analyzed using a series of methods customized for mice. RESULTS AND DISCUSSION: The ECG apparatus described here allowed us to detect noninvasively long series of heartbeats in freely-moving animals. During baseline conditions, the yield of detectable heartbeats was 3%-27% of the estimated total number of events, which increased to 35%-70% during the 15-min period after either Iso or CCh injections. Ts65Dn mice displayed a robust enhanced Iso-induced negative chronotropic rebound response compared with euploid control mice. We observed a significantly smaller CCh response in Ts65Dn versus control euploid mice in the 6- to 10-min-interval postcarbachol injection. CONCLUSION: This work showed that the techniques described here are sufficient for this type of study. However, future studies involving the use of more selective pharmacological agents and/or genetic manipulations will be key to advance a mechanistic understanding of cardiac autonomic regulation in DS.

Patient-physician discordance in assessment of adherence to inhaled controller medication: a cross-sectional analysis of two cohorts.

OBJECTIVE: We aimed to compare patient's and physician's ratings of inhaled medication adherence and to identify predictors of patient-physician discordance. DESIGN: Baseline data from two prospective multicentre observational studies. SETTING: 29 allergy, pulmonology and paediatric secondary care outpatient clinics in Portugal. PARTICIPANTS: 395 patients (≥13 years old) with persistent asthma. MEASURES: Data on demographics, patient-physician relationship, upper airway control, asthma control, asthma treatment, forced expiratory volume in one second (FEV1) and healthcare use were collected. Patients and physicians independently assessed adherence to inhaled controller medication during the previous week using a 100 mm Visual Analogue Scale (VAS). Discordance was defined as classification in distinct VAS categories (low 0-50; medium 51-80; high 81-100) or as an absolute difference in VAS scores ≥10 mm. Correlation between patients' and physicians' VAS scores/categories was explored. A multinomial logistic regression identified the predictors of physician overestimation and underestimation. RESULTS: High inhaler adherence was reported both by patients (median (percentile 25 to percentile 75) 85 (65-95) mm; 53% VAS>80) and by physicians (84 (68-95) mm; 53% VAS>80). Correlation between patient and physician VAS scores was moderate (rs=0.580; p<0.001). Discordance occurred in 56% of cases: in 28% physicians overestimated adherence and in 27% underestimated. Low adherence as assessed by the physician (OR=27.35 (9.85 to 75.95)), FEV1 ≥80% (OR=2.59 (1.08 to 6.20)) and a first appointment (OR=5.63 (1.24 to 25.56)) were predictors of underestimation. An uncontrolled asthma (OR=2.33 (1.25 to 4.34)), uncontrolled upper airway disease (OR=2.86 (1.35 to 6.04)) and prescription of short-acting beta-agonists alone (OR=3.05 (1.15 to 8.08)) were associated with overestimation. Medium adherence as assessed by the physician was significantly associated with higher risk of discordance, both for overestimation and underestimation of adherence (OR=14.50 (6.04 to 34.81); OR=2.21 (1.07 to 4.58)), while having a written action plan decreased the likelihood of discordance (OR=0.25 (0.12 to 0.52); OR=0.41 (0.22 to 0.78)) (R2=44%). CONCLUSION: Although both patients and physicians report high inhaler adherence, discordance occurred in half of cases. Implementation of objective adherence measures and effective communication are needed to improve patient-physician agreement.

ECCO essential requirements for quality cancer care: Melanoma.

BACKGROUND: ECCO essential requirements for quality cancer care (ERQCC) are explanations and descriptions of challenges, organisation and actions that are necessary to give high-quality care to patients who have a specific type of cancer. They are written by European experts representing all disciplines involved in cancer care. ERQCC papers give oncology teams, patients, policymakers and managers an overview of the elements needed in any healthcare system to provide high quality of care throughout the patient journey. References are made to clinical guidelines and other resources where appropriate, and the focus is on care in Europe. MELANOMA: ESSENTIAL REQUIREMENTS FOR QUALITY CARE: CONCLUSION: Taken together, the information presented in this paper provides a comprehensive description of the essential requirements for establishing a high-quality service for melanoma. The ERQCC expert group is aware that it is not possible to propose a 'one size fits all' system for all countries, but urges that access to multidisciplinary teams and specialised treatments is guaranteed to all patients with melanoma.

ECCO essential requirements for quality cancer care: Oesophageal and gastric cancer.

BACKGROUND: ECCO essential requirements for quality cancer care (ERQCC) are checklists and explanations of organisation and actions that are necessary to give high-quality care to patients who have a specific type of cancer. They are written by European experts representing all disciplines involved in cancer care. ERQCC papers give oncology teams, patients, policymakers and managers an overview of the elements needed in any healthcare system to provide high quality of care throughout the patient journey. References are made to clinical guidelines and other resources where appropriate, and the focus is on care in Europe. OESOPHAGEAL AND GASTRIC: ESSENTIAL REQUIREMENTS FOR QUALITY CARE: CONCLUSION: Taken together, the information presented in this paper provides a comprehensive description of the essential requirements for establishing a high-quality OG cancer service. The ERQCC expert group is aware that it is not possible to propose a 'one size fits all' system for all countries, but urges that access to multidisciplinary units or centres must be guaranteed for all those with OG cancer.

The need for harmonisation and innovation of neuropsychological assessment in neurodegenerative dementias in Europe: consensus document of the Joint Program for Neurodegenerative Diseases Working Group.

Cognitive, behavioural, and functional assessment is crucial in longitudinal studies of neurodegenerative dementias (NDD). Central issues, such as the definition of the study population (asymptomatic, at risk, or individuals with dementia), the detection of change/decline, and the assessment of relevant outcomes depend on quantitative measures of cognitive, behavioural, and functional status.Currently, we are far from having available reliable protocols and tools for the assessment of dementias in Europe. The main problems are the heterogeneity of the tools used across different European countries, the lack of standardisation of administration and scoring methods across centres, and the limited information available about the psychometric properties of many tests currently in widespread use. This situation makes it hard to compare results across studies carried out in different centres, thus hampering research progress, in particular towards the contribution to a "big data" common data set.We present here the results of a project funded by the Joint Program for Neurodegenerative Diseases (JPND) and by the Italian Ministry of Health. The project aimed at providing a consensus framework for the harmonisation of assessment tools to be applied to research in neurodegenerative disorders affecting cognition across Europe. A panel of European experts reviewed the current methods of neuropsychological assessment, identified pending issues, and made recommendations for the harmonisation of neuropsychological assessment of neurodegenerative dementias in Europe.A consensus was achieved on the general recommendations to be followed in developing procedures and tools for neuropsychological assessment, with the aim of harmonising tools and procedures to achieve more reliable data on the cognitive-behavioural examination. The results of this study should be considered as a first step to enhancing a common view and practise on NDD assessment across European countries.

Dopaminergic-induced dyskinesia assessment based on a single belt-worn accelerometer.

BACKGROUND: After several years of treatment, patients with Parkinson's disease (PD) tend to have, as a side effect of the medication, dyskinesias. Close monitoring may benefit patients by enabling doctors to tailor a personalised medication regimen. Moreover, dyskinesia monitoring can help neurologists make more informed decisions in patient's care. OBJECTIVE: To design and validate an algorithm able to be embedded into a system that PD patients could wear during their activities of daily living with the purpose of registering the occurrence of dyskinesia in real conditions. MATERIALS AND METHODS: Data from an accelerometer positioned in the waist are collected at the patient's home and are annotated by experienced clinicians. Data collection is divided into two parts: a main database gathered from 92 patients used to partially train and to evaluate the algorithms based on a leave-one-out approach and, on the other hand, a second database from 10 patients which have been used to also train a part of the detection algorithm. RESULTS: Results show that, depending on the severity and location of dyskinesia, specificities and sensitivities higher than 90% are achieved using a leave-one-out methodology. Although mild dyskinesias presented on the limbs are detected with 95% specificity and 39% sensitivity, the most important types of dyskinesia (any strong dyskinesia and trunk mild dyskinesia) are assessed with 95% specificity and 93% sensitivity. CONCLUSION: The presented algorithmic method and wearable device have been successfully validated in monitoring the occurrence of strong dyskinesias and mild trunk dyskinesias during activities of daily living.

Sensitivity of a time-based prospective memory procedure in the assessment of amnestic mild cognitive impairment.

This study was aimed at evaluating whether prospective memory (PM) assessment is able to assist the discrimination between amnestic mild cognitive impairment (aMCI) and healthy subjects (HCs) and between aMCI with single versus multiple domains impairment. Individuals with aMCI and HCs were administered an extensive neuropsychological tests battery and a time-based PM task. PM scores significantly improved the accuracy of the regression model in discriminating between aMCI multiple domains, but not aMCI single domain, and HCs. Moreover, the prospective score significantly contributed to the discrimination between the two aMCI subgroups. These findings indicate the usefulness of including the PM procedure in evaluations of aMCI.

An assessment of optokinetic nystagmus (OKN) in persons with Down syndrome.

Down syndrome (DS), the most common genetically defined cause of intellectual disability, is the phenotypic consequence of a supernumerary chromosome 21. Persons with DS commonly display deficits in visuomotor integration, motor coordination, and balance. Despite the key roles of the optokinetic and vestibular systems in these submodalities of motor function, a systematic investigation of the optokinetic nystagmus (OKN) and vestibulo-ocular reflex (VOR) in persons with DS had lacked in the literature. Accordingly, this study generated quantitative data on oculomotor function in persons with DS under optokinetic and sinusoidal smooth pursuit stimulation. Thirty-two participants with DS (14-36 years old, equally divided by gender) and 32 chronological age- and gender-matched typically developing controls were recruited from the community. Eye movements were recorded by binocular video oculography and an LCD projector produced visual stimulation. Assessments of the gain and frequency of slow phase of OKN beats and number and mean amplitude of intruding saccades during smooth pursuit were performed. Individuals with DS displayed angular velocity-dependent reduction in OKN gain and number of produced nystagmus beats compared to controls. The gain of the smooth pursuit was not significantly different between participants with DS and control participants. However, the number and mean amplitude of intruding saccades during smooth pursuit were increased in participants with DS compared to control participants. These findings may have implications to the understanding of the neurological basis of the motor dysfunction that affects performance in many practical tasks persons with DS encounter in their everyday lives.

An assessment of the vestibulo-ocular reflex (VOR) in persons with Down syndrome.

Down syndrome (DS), the most common genetically defined cause of intellectual disability, is the phenotypic consequence of a supernumerary chromosome 21. Persons with DS commonly display deficits in visuomotor integration, motor coordination, and balance. Despite the key roles of the optokinetic and vestibular systems in these submodalities of motor function, a systematic investigation into the optokinetic nystagmus (OKN) and vestibulo-ocular reflex (VOR) in persons with DS was lacking in the literature. Accordingly, this study generated quantitative data on oculomotor function in persons with DS under vestibular stimulation (an accompanying work describes results on the analysis of optokinetic function in the same cohort of participants). Experiments involved 32 participants with DS (14-36 years old, equally divided by gender) and 32 chronological age- and gender-matched typically developing controls. Eye movements were recorded by binocular video-oculography, and a servo-controlled rotary chair produced vestibular stimulation. Participants were assessed for VOR during step, ramp, and sinusoidal stimulations; inhibition of the VOR by visual target fixation; and VOR adaptation to conflicting visual input. Individuals with DS displayed small alterations in the VOR gain and dynamics compared to controls. In contrast, the number of VOR nystagmus beats and the ability to inhibit the VOR by visual target fixation were markedly and robustly smaller in persons with DS. Significantly increased VOR adaptation was observed in men with DS. These findings may have implications to the understanding of the neurological basis of the motor dysfunction that affects performance in many practical tasks persons with DS encounter in their everyday lives.