Consensus Paper: Radiological Biomarkers of Cerebellar Diseases

Hereditary and sporadic cerebellar ataxias represent a vast and still growing group of diseases whose diagnosis and differentiation cannot only rely on clinical evaluation. Brain imaging including magnetic resonance (MR) and nuclear medicine techniques allows for characterization of structural and functional abnormalities underlying symptomatic ataxias. These methods thus constitute a potential source of radiological biomarkers, which could be used to identify these diseases and differentiate subgroups of them, and to assess their severity and their evolution. Such biomarkers mainly comprise qualitative and quantitative data obtained from MR including proton spectroscopy, diffusion imaging, tractography, voxel-based morphometry, functional imaging during task execution or in a resting state, and from SPETC and PET with several radiotracers. In the current article, we aim to illustrate briefly some applications of these neuroimaging tools to evaluation of cerebellar disorders such as inherited cerebellar ataxia, fetal developmental malformations, and immune-mediated cerebellar diseases and of neurodegenerative or early-developing diseases, such as dementia and autism in which cerebellar involvement is an emerging feature. Although these radiological biomarkers appear promising and helpful to better understand ataxia-related anatomical and physiological impairments, to date, very few of them have turned out to be specific for a given ataxia with atrophy of the cerebellar system being the main and the most usual alteration being observed. Consequently, much remains to be done to establish sensitivity, specificity, and reproducibility of available MR and nuclear medicine features as diagnostic, progression and surrogate biomarkers in clinical routine

“What are my chances of developing COPD if one of my parents has the disease?” A systematic review and meta-analysis of prevalence of co-occurrence of COPD diagnosis in parents and offspring

Lok Sze Katrina Li,1 Catherine Paquet,2 Kylie Johnston,1 Marie T Williams3 1School of Health Sciences, Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, 2Center for Population Health Research, Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, 3Alliance for Research in Exercise, Nutrition and Activity (ARENA), Sansom Institute for Health Research, University of South Australia, Adelaide, South Australia, AustraliaIntroduction: Intergenerational associations in chronic obstructive pulmonary disease (COPD) have been well recognized and may result from genetic, gene environment, or exposure to life course factors. Consequently, adult offspring of parents with COPD may be at a greater risk of developing COPD. The aim of this study was to review the prevalence of co-occurrence of COPD in adult offspring with one or both parents having COPD independent of specific genetic variations.Methods: In total, five databases were searched for original studies in which prevalence of COPD was reported in both offspring (children) and one or both parents. Studies were excluded if COPD was not clearly defined, COPD was linked to specific genetic variations, COPD was combined with other chronic respiratory conditions, or estimates included other first-degree relatives. Data extraction (ie, sample characteristics, prevalence of COPD, and odds ratio [OR] if reported) was completed by two independent reviewers. A meta-analysis of prevalence and OR was conducted, where possible. Results: Of the 3,382 citations, 129 full texts were reviewed to include eight studies (six case–control, one cross-sectional, and one cohort) reflecting either prevalence of COPD in offspring of parents with COPD (descendent approach, n=3), which ranged from 0% to 17.3%, or prevalence of people with COPD reporting positive parental history of COPD (antecedent approach, n=5), for which the pooled prevalence was 28.6%. Offspring of people with COPD had 1.57 times greater odds (95% confidence interval =1.29–1.93; P<0.001) of having COPD compared with people not having a parental history of COPD. Conclusion: The prevalence of COPD in adult offspring of people with COPD is greater than population-based estimates, and the ORs indicate a higher risk in this group. This offers clinicians a potential strategy for opportunistic screening, early identification, and intervention in this at-risk group. Keywords: COPD, intergenerational, prevalence, systematic revie

Counseling for health behavior change in people with COPD: systematic review

Marie T Williams,1 Tanja W Effing,2,3 Catherine Paquet,4 Carole A Gibbs,5 Hayley Lewthwaite,1 Lok Sze Katrina Li,6 Anna C Phillips,6 Kylie N Johnston6 1Health and Alliance for Research in Exercise, Nutrition and Activity (ARENA), School of Health Sciences, Sansom Institute for Health Research, University of South Australia, 2Department of Respiratory Medicine, Repatriation General Hospital, 3School of Medicine, Flinders University, 4Division of Health Sciences, Centre for Population Health Research, School of Health Sciences, Sansom Institute for Health Research, 5Library, University of South Australia, 6Division of Health Sciences, School of Health Sciences, Sansom Institute for Health Research, University of South Australia, Adelaide, SA, Australia Abstract: Counseling has been suggested as a promising approach for facilitating changes in health behavior. The aim of this systematic review of counseling interventions for people with COPD was to describe: 1) counseling definitions, 2) targeted health behaviors, 3) counseling techniques and 4) whether commonalities in counseling techniques were associated with improved health behaviors. Ten databases were searched for original randomized controlled trials which included adults with COPD, used the term “counseling” as a sole or component of a multifaceted intervention and were published in the previous 10 years. Data extraction, study appraisal and coding for behavior change techniques (BCTs) were completed by two independent reviewers. Data were synthesized descriptively, with meta-analysis conducted where possible. Of the 182 studies reviewed as full-text, 22 were included. A single study provided a definition for counseling. Two key behaviors were the main foci of counseling: physical activity (n=9) and smoking cessation (n=8). Six studies (27%) reported underlying models and/or theoretical frameworks. Counseling was the sole intervention in 10 studies and part of a multicomponent intervention in 12. Interventions targeting physical activity included a mean of 6.3 (±3.1) BCTs, smoking cessation 4.9 (±2.9) BCTs and other behaviors 6.5 (±3.9) BCTs. The most frequent BCTs were social support unspecified (n=22; 100%), goal setting behavior (n=11), problem-solving (n=11) and instructions on how to perform the behavior (n=10). No studies shared identical BCT profiles. Counseling had a significant positive effect for smoking cessation and positive but not significant effect for physical activity. Counseling for health behavior change was rarely defined and effectiveness varied by target behavior. Provision of specific details when reporting studies of counseling interventions (definition, BCTs, dosage) would allow clarification of the effectiveness of counseling as an approach to health behavior change in people with COPD. Keywords: health behavior counseling, COPD, behavior change techniques&nbsp