What Factors Explain Family Quality of Life in Neurodegenerative Diseases?

Neurodegenerative diseases (NDs) are a major cause of dependency among elderly and affect the entire family unit. However, the literature has paid little attention to Family Quality of Life (FQOL) and focused on the patient and the main caregiver. The aim was to analyze the FQOL of people with NDs from a systemic perspective and to identify associated factors. A sample of 300 family caregivers from the cross-border region of Spain-Portugal completed the FQOLS - ND, which collected FQOL global and domain-level scores in terms of attainment and satisfaction. The highest rates of FQOL were obtained for the domain Family relations and the lowest for Support from services. The level of perceived barriers to social-health services emerged as the strongest predictor of global FQOL in all models. It is essential to reduce the obstacles to access social-health services and provide the family with resources according to their needs, especially in rural areas.

Leisure education in youth with developmental disabilities: Effects on individual quality of life, adaptive behavior, and family quality of life.

Leisure participation enhances the learning of adaptive skills and the quality of life in youth with developmental disabilities. The goal of this study was to evaluate the effects of a leisure education program in individuals with developmental disabilities in terms of adaptive behavior and quality of life. Nine participants divided into two small groups and their families were included. A quasi-experimental design was employed to determine whether there was a program effect. The Adaptive Behavior Assessment System, the KIDSCREEN-27, and the Family Quality of Life Scale were administered before and after the intervention. There was a significant increase in social, home, and school skills as well as a better perception of quality of life in relationships with parents, social support, and school. In addition, the program affected the family's perception of practical and emotional support. Findings provide support for the application of this leisure program to enhance quality of life outcomes.

Listening to families with a person with neurodegenerative disease talk about their quality of life: integrating quantitative and qualitative approaches.

BACKGROUND: The diagnosis of a neurodegenerative disease (ND) produces profound changes in the quality of life of the affected families. Despite the vital importance of these processes, the scientific literature has addressed this topic almost exclusively relating to the main caregiver or using limited approaches. Thus, the main objective of this research is to achieve a deeper understanding of the quality of family life of people with a neurodegenerative disease, following a mixed-method approach that combines quantitative and qualitative methodology. METHODS: The quantitative instrument was the Spanish version of the Family Quality of Life Survey-Neurodegenerative Disease (FQOLS-ND), which was completed by 300 participating families. The qualitative methodology was used in two focus groups with family caregivers, with a total of 21 participants. RESULTS: On the one hand, confirmation of the dimensional structure of the scale in the focus groups was obtained and, on the other hand, the results of family quality of life in attainment and satisfaction were shown to be high for Family Relations and Careers and Planning for Careers and low for Support from Services and Leisure and Recreation. CONCLUSIONS: The results of this study, through the combination of quantitative and qualitative information, helps to identify key issues to optimize services that respond to the priority needs of families.

A conserved expression signature predicts growth rate and reveals cell & lineage-specific differences.

Isogenic cells cultured together show heterogeneity in their proliferation rate. To determine the differences between fast and slow-proliferating cells, we developed a method to sort cells by proliferation rate, and performed RNA-seq on slow and fast proliferating subpopulations of pluripotent mouse embryonic stem cells (mESCs) and mouse fibroblasts. We found that slowly proliferating mESCs have a more naïve pluripotent character. We identified an evolutionarily conserved proliferation-correlated transcriptomic signature that is common to all eukaryotes: fast cells have higher expression of genes for protein synthesis and protein degradation. This signature accurately predicted growth rate in yeast and cancer cells, and identified lineage-specific proliferation dynamics during development, using C. elegans scRNA-seq data. In contrast, sorting by mitochondria membrane potential revealed a highly cell-type specific mitochondria-state related transcriptome. mESCs with hyperpolarized mitochondria are fast proliferating, while the opposite is true for fibroblasts. The mitochondrial electron transport chain inhibitor antimycin affected slow and fast subpopulations differently. While a major transcriptional-signature associated with cell-to-cell heterogeneity in proliferation is conserved, the metabolic and energetic dependency of cell proliferation is cell-type specific.

Transcultural adaptation and psychometric properties of Family Quality of Life Survey for caregivers of people with neurodegenerative disease: a study of Spanish families who live in the rural Spain-Portugal cross-border.

BACKGROUND: Neurodegenerative diseases (NDs) are one of the main causes of disability and dependence that have a great impact both on the quality of life of people with disabilities and their families. A majority of people with NDs receive care and support from the family, but there is no tool in Spain with which to measure whole-family QOL. The aim of this study was the translation, cultural adaptation, and validation of the FQOLS-Dementia into Spanish to assess FQOL among family members of individuals with NDs who live in the Spain-Portugal cross-border area. METHOD: The Spanish version was translated and adapted following the international guidelines for cross-cultural adaptation tests. A sample of 300 family caregivers was interviewed, applying an adapted version of the Family Quality Survey (FQOLS-Dementia). Confirmatory factor analysis was performed to validate the factor structure, and convergent validity was examined with Pearson's correlation coefficients of the global FQOL with the domains. Internal consistency reliability was determined using Cronbach's alpha. RESULTS: The domain structure of the FQOLS-ND showed a good fit. In the convergent validity, it was found that the total score and the subscale domain scores were associated with the global FQOL score, except for the Values domain. Internal consistency of nine domain subscales was strong (α = 0.80 to 0.91), and excellent for the total FQOL (α = 0.85) and the global FQOL (α = 0.87). CONCLUSION: The FQOLS-ND presented good validity and reliability in caregiver families with individuals with ND, so its application shows its usefulness in detecting areas of improvement and intervention strategies for FQOL in the Spain-Portugal cross-border area.

The genetic landscape for amyloid beta fibril nucleation accurately discriminates familial Alzheimer's disease mutations.

Plaques of the amyloid beta (Aß) peptide are a pathological hallmark of Alzheimer's disease (AD), the most common form of dementia. Mutations in Aß also cause familial forms of AD (fAD). Here, we use deep mutational scanning to quantify the effects of >14,000 mutations on the aggregation of Aß. The resulting genetic landscape reveals mechanistic insights into fibril nucleation, including the importance of charge and gatekeeper residues in the disordered region outside of the amyloid core in preventing nucleation. Strikingly, unlike computational predictors and previous measurements, the empirical nucleation scores accurately identify all known dominant fAD mutations in Aß, genetically validating that the mechanism of nucleation in a cell-based assay is likely to be very similar to the mechanism that causes the human disease. These results provide the first comprehensive atlas of how mutations alter the formation of any amyloid fibril and a resource for the interpretation of genetic variation in Aß.

Alzheimer's disease is the most common form of dementia, affecting more than 50 million people worldwide. Despite more than 400 clinical trials, there are still no effective drugs that can prevent or treat the disease. A common target in Alzheimer's disease trials is a small protein called amyloid beta. Amyloid beta proteins are 'sticky' molecules. In the brains of people with Alzheimer's disease, they join to form first small aggregates and then long chains called fibrils, a process which is toxic to neurons. Specific mutations in the gene for amyloid beta are known to cause rare, aggressive forms of Alzheimer's disease that typically affect people in their fifties or sixties. But these are not the only mutations that can occur in amyloid beta. In principle, any part of the protein could undergo mutation. And given the size of the human population, it is likely that each of these mutations exists in someone alive today. Seuma et al. reasoned that studying these mutations could help us understand the process by which amyloid beta forms new aggregates. Using an approach called deep mutational scanning, Seuma et al. mutated each point in the protein, one at a time. This produced more than 14,000 different versions of amyloid beta. Seuma et al. then measured how quickly these mutants were able to form aggregates by introducing them into yeast cells. All the mutations known to cause early-onset Alzheimer's disease accelerated amyloid beta aggregation in the yeast. But the results also revealed previously unknown properties that control how fast aggregation occurs. In addition, they highlighted a number of positions in the amyloid beta sequence that act as 'gatekeepers'. In healthy brains, these gatekeepers prevent amyloid beta proteins from sticking together. When mutated, they drive the protein to form aggregates. This comprehensive dataset will help researchers understand how proteins form toxic aggregates, which could in turn help them find ways to prevent this from happening. By providing an 'atlas' of all possible amyloid beta mutations, the dataset will also help clinicians interpret any new mutations they encounter in patients. By showing whether or not a mutation speeds up aggregation, the atlas will help clinicians predict whether that mutation increases the risk of Alzheimer's disease.

Assembling the right type of switch: Protein condensation to signal cell death.

Protein phase transitions are particularly amenable for cell signalling as these highly cooperative processes allow cells to make binary decisions in response to relatively small intracellular changes. The different processes of condensate formation and the distinct material properties of the resulting condensates provide a dictionary to modulate a range of decisions on cell fate. We argue that, on the one hand, the reversibility of liquid demixing offers a chance to arrest cell growth under specific circumstances. On the other hand, the transition to amyloids is better suited for terminal decisions such as those leading to apoptosis and necrosis. Here, we review recent examples of both scenarios, highlighting how mutations in signalling proteins affect the formation of biomolecular condensates with drastic effects on cell survival.

I Want to Play: Children With Cerebral Palsy Talk About Their Experiences on Barriers and Facilitators to Participation in Leisure Activities.

PURPOSE: To explore how children with cerebral palsy (CP) experience participation in leisure activities and to describe the environmental barriers and facilitators. METHODS: Sixteen children with cerebral palsy aged 7 to 17 years participated in 3 focus groups. Data were analyzed thematically by 3 researchers on the basis of the International Classification of Functioning, Disability and Health. RESULTS: A total of 38 International Classification of Functioning, Disability and Health categories were identified (4 linked to Body functions; 2 linked to Body structures; 8 linked to Activities & Participation, and 24 to Environmental factors: 10 facilitators and 14 barriers). The most mentioned categories were Voluntary movement control functions, Functions related to gait pattern, Structure of upper arm, Recreation and leisure, Nuclear family and finally, and Individual attitudes of acquaintances. CONCLUSIONS: The main barriers identified by children with cerebral palsy highlight aspects of the physical, social, and attitudinal environment that could be modified to enhance participation in leisure activities.

The Adaptation and Psychometric Properties of the Kid-KINDLR for Hospitalized Children in Chile.

PURPOSE: The impact of hospitalization on a child's well-being leads one to consider the health-related quality of life (HRQoL) measure as a fundamental aspect of pediatric care. The aims of the study were to adapt the Spanish version of the Kid-KINDL® to hospitalized children in Chile, to obtain a reduced version of the instrument and to analyze the psychometric properties of the reduced version. DESIGN AND METHODS: An expert committee and interviews were carried out for the cross-cultural adaptation process. An exploratory factor analysis was conducted to examine the validity of the construct and to select the items for the reduced version. Cronbach's alpha was used to estimate the internal consistency of the adapted version of the Kid-KINDL® and the reliability of each component. Convergent validity was based on correlations with a pain scale. RESULTS: This adapted and shorter instrument, similar to the original version, comprises five components that include the principal dimensions of HRQoL. Evaluating the School dimension in hospitalized children was considered inappropriate in Chilean public hospitals. The study replicates the relationship found between a child with high pain and low reported HRQoL. CONCLUSIONS: The hospitalization process impacted the children's perceptions of their HRQoL. The reduced version of the Kid-KINDL® was found to be a valid instrument for assessing children's HRQoL in hospital units. PRACTICE IMPLICATIONS: Finding effective ways to measure HRQoL and ultimately mitigate barriers and foster resilience are important clinical and research priorities in the pursuit of HRQoL for hospitalized children and their families.

Comparing parent and child reports of health-related quality of life and their relationship with leisure participation in children and adolescents with Cerebral Palsy.

The aim of this study was to examine the level of agreement between reports of health-related quality of life (HR-QoL) obtained from children and adolescents with cerebral palsy (CP) and their parents. We also examined the relationships between child and parent perception of the different domains of HR-QoL and participation dimensions. Sixty-nine children and adolescents with CP and their parents separately completed parallel forms of the KIDSCREEN questionnaire. The Spanish version of the Children's Assessment of Participation and Enjoyment (CAPE) was completed by the child/adolescent. Concordance between the children's and the parents' HR-QoL scores was analyzed via Pearson and intraclass correlations. Differences in means were tested using paired Student's t-tests. Chi-square tests were using to assess the incidence of personal variables in the agreement and disagreement of children-parents' responses. The relationships between HR-QoL and leisure participation was confirmed with Pearson's correlation coefficients. Correlations between child and parent HR-QoL scores were small in 7 domains, medium in 2 and large in the Social Support & Peers domain. Children reported significantly better HR-QoL than their parents did. Participation was positively associated with specific domains of HR-QoL, but only weakly, and there were discrepancies between parent and child reports of HR-QoL. These findings provide interesting information about the importance of hearing the voices of children and adolescents with CP to promote HR-QoL and leisure participation.

Do environmental barriers affect the parent-reported quality of life of children and adolescents with cerebral palsy?

Physical, social, and attitudinal environment may affect the quality of life (QoL) of children and adolescents with cerebral palsy (CP). Participants in this study included parents of 206 children and adolescents with CP (55.8% males) aged 8-18 years (M=11.96, SD=3). Distribution according to the Gross Motor Function Classification System (GMFCS) was 24.3% level I, 18% level II, 18% level III, 12.6% level IV, and 27.2 level V. Environmental barriers were assessed with the Spanish version of the European Child Environment Questionnaire (ECEQ), and QoL was assessed with the KIDSCREEN parents' version. The results of the correlation analysis revealed that GMFCS level, IQ, and type of schooling are significantly correlated with QoL. Barriers were also associated with QoL. A series of hierarchical regression analyses indicated that, after controlling for the effect of child and parent's variables, barriers at home and at school significantly contribute to QoL. These findings underscore the importance of providing interventions to produce environmental changes that contribute to the improvement of QoL.

Confirmatory factor analysis of the supports intensity scale for children.

Support needs assessment instruments and recent research related to this construct have been more focused on adults with intellectual disability than on children. However, the design and implementation of Individualized Support Plans (ISP) must start at an early age. Currently, a project for the translation, adaptation and validation of the supports intensity scale for children (SIS-C) is being conducted in Spain. In this study, the internal structure of the scale was analyzed to shed light on the nature of this construct when evaluated in childhood. A total of 814 children with intellectual disability between 5 and 16 years of age participated in the study. Their support need level was assessed by the SIS-C, and a confirmatory factor analysis (CFA), including different hypotheses, was carried out to identify the optimal factorial structure of this scale. The CFA results indicated that a unidimensional model is not sufficient to explain our data structure. On the other hand, goodness-of-fit indices showed that both correlated first-order factors and higher-order factor models of the construct could explain the data obtained from the scale. Specifically, a better fit of our data with the correlated first-order factors model was found. These findings are similar to those identified in previous analyses performed with adults. Implications and directions for further research are discussed.

Pain, motor function and health-related quality of life in children with cerebral palsy as reported by their physiotherapists.

BACKGROUND: Children and adolescents with cerebral palsy suffer from higher levels of pain than their peers without disability. The aim of this study was to explore the impact of pain on health-related quality of life and motor function in individuals with cerebral palsy as reported by health professionals. METHODS: Cross-sectional study carried out in Associations for Care of Individuals with Cerebral Palsy and Related Disabilities (ASPACE) in Balearic Islands and Castile Leon (Spain). Thirty-five physiotherapists rated pain, health-related quality of life and motor function in 91 children and adolescents with cerebral palsy [8-19y]. A semi-structured interview was used to collect demographic and clinical data according with the Study of Participation of Children with Cerebral Palsy Living in Europe (SPARCLE). RESULTS: Physiotherapists reported that 51% of individuals with cerebral palsy suffered from pain. Physiotherapists also perceived that pain in individuals with cerebral palsy was responsible for reductions of psychological but not physical domains of health-related quality of life. According with physiotherapists' estimations, motor impairment scores were not correlated with pain scores in individuals with cerebral palsy, but they were significantly associated with physical and autonomy domains of health-related quality of life. CONCLUSIONS: These findings highlighted the importance of assessing and providing interventions for pain relief in persons with cerebral palsy even at an early age.

Environmental needs and facilitators available for children and adolescents with cerebral palsy: adaptation and validation of the European Child Environment Questionnaire (ECEQ) Spanish version.

PURPOSE: The objective of this study is to present the process of translating, adapting and validating the European Child Environment Questionnaire (ECEQ) in the Spanish context. METHOD: The participants were 200 parents of children and adolescents with cerebral palsy (CP) aged 8-18 years, from seven regions in Spain. The adaptation of the ECEQ original version was carried out through the translation and back translation into Spanish. Construct validity was assessed by Factor analysis, Rasch model, and analysing group differences in need and availability of environmental features (EFs) according to level GMFCS. RESULTS: We obtained a high rate of parental response. The ECEQ Spanish version contains 59 items and we identified four domains: Products and technology - home, school and community - services, systems and policies, support and relations, and Attitudes. Seventeen items were dropped as they did not fit well into plausible domains. Construct validity in terms of distinguishing between groups with expected for both need and availability. CONCLUSION: The ECEQ Spanish version was more appropriate to assess the needs of and access to EFs in the following domains: Products and technology and services, systems and policies, and it proved less appropriate for the support and relations, and attitudes domains. Implications for Rehabilitation Identification of barriers and environmental facilitators are key aspects to ensure the participation of children and adolescents with CP. The ECEQ is a useful tool for identifying needs and availability of the environmental features for children and adolescents with CP in Spain. This tool contains 59 items that are consistent with ICF framework. The Spanish version of ECEQ provides valuable information, which could be helpful to guide public services and organization services in order to optimize participation of children and adolescents with CP.

The effect of a program to promote play to reduce children's post-surgical pain: with plush toys, it hurts less.

Various nonpharmacological strategies to relieve hospitalized children's pain propose play as a central element. Play is considered an essential resource to improve the negative psychosocial effects of the disease and the hospitalization itself. However, the empirical research of play in health settings has not received much attention. The goal of this study was to determine the effect of a program to promote play in the hospital on postsurgical pain in pediatric patients. The research hypothesis was that children will manifest less pain if they are distracted through play during the postsurgical period. We carried out a randomized parallel trial with two groups, an experimental group and a control group. The control group did not receive any specific treatment, only the standard attention contemplated in the hospital. The parents of the children from the experimental group received instructions to play with their children in the postsurgical period and specific play material with which to play. The results obtained support the research hypothesis. On average, the children from the experimental group scored lower on a pain scale than the children from the control group. This occurred in the three postsurgical measurements of pain. It is concluded that the program to promote play can decrease children's perception of pain.

Contributions of an artistic educational program for older people with early dementia: an exploratory qualitative study.

OBJECTIVE: To describe a contemporary artistic educational program based on photographic cyanotype techniques and to present the results of the program carried out with older people with early dementia. We determined whether these people could participate in the program, their viewpoint about it, and what this program could contribute to their experience. METHOD: Twenty-one people diagnosed with mild or moderate dementia participated in a series of artistic education workshops. While conducting the workshops, participant observation was carried out, and the participants' engagement was assessed. Upon completing the series, five focus groups were held with the participants with dementia, and another focus group with their professional caretakers. RESULTS: We observed the participants' high level of commitment to the activity and their interest in learning new things. We also observed the participants' satisfaction during the creative process and with their results. The artistic activities not only reinforced the feelings of capacity of the participants with early dementia but also transmitted a positive image of them. CONCLUSIONS: Dementia was not an obstacle to participation in the program, which was an opportunity for creativity, learning, enjoyment, and communication for people with dementia. In the authors' opinion, facilitating access to art and artistic education to people with early dementia can contribute to enforcing their rights and to improving the care system.

The influence of participation in leisure activities on quality of life in Spanish children and adolescents with Cerebral Palsy.

Participation is an important modifiable quality of life (QOL) determinant and a key outcome measure. The aim of this study was to confirm if participation in leisure activities affects the QOL domains in children and adolescents with Cerebral Palsy (CP) in Spain. A total of 206 children and adolescents with CP (and their parents), 115 boys and 91 girls, mean age of 11.96 years (SD=3.00; range 8-18 years) participated in the study. Distribution according to the Gross Motor Function Classification System (GMFCS) was 24.3% Level I, 18% Level II, 18% Level III, 12.6% Level IV, and 27.2% Level V. Participation in leisure activities was assessed using the Spanish version of Children's Assessment of Participation and Enjoyment (CAPE) and QOL using the KIDSCREEN parents' version. Diversity, intensity and enjoyment of participation explained the levels of QOL in the Physical well-being, Psychological well-being, Autonomy, Parent relation & home life and Social support & peers domains, independently of gender, age and level of impairment (motor and intellectual). We also found that intensity and enjoyment of participation in informal activities had more influence on the different QOL domains. The most influenced domain by the enjoyment of participation in all domains and types of CAPE activities was Psychological well-being. The participation in leisure activities had a positive effect on the QOL of the Spanish children and adolescents with CP.

Relationships between leisure participation and quality of life of people with developmental disabilities.

BACKGROUND: Studies of people with developmental disabilities suggest that participation in leisure activities might be a key factor for good quality of life. This study explores the relationships between objective and subjective quality of life and leisure participation of adults with developmental disabilities. MATERIALS AND METHODS: A cross-sectional design was used with a convenience sample of 125 people, aged 17-65, living in the community. Participants completed the subjective scale of Integral Quality Scale and the Leisure Assessment Inventory in the form of an individual interview. Staff completed the GENCAT Scale. RESULTS: No relationship was found between objective quality of life and leisure participation. However, correlations between some leisure participation dimensions and specific subjective quality of life domains were observed. The results establish a predictive relationship between leisure participation and material, emotional, and physical well-being. Personal and environmental variables analyzed were not found to have a moderating effect on the relationship between leisure participation and quality of life. CONCLUSIONS: These findings indicate that some aspects of leisure participation may significantly contribute to enhancing the quality of life of young people and adults with developmental disabilities living in the community.

Patterns and predictors of participation in leisure activities outside of school in children and adolescents with Cerebral Palsy.

This study analyzed the patterns and predictors of participation in leisure activities outside of school of Spanish children and adolescents with Cerebral Palsy (CP). Children and adolescents with CP (n = 199; 113 males and 86 females) participated in this cross-sectional study. Their mean age was 12.11 years (SD = 3.02; range 8-18 years), and they were evaluated using the Spanish version of the Children's Assessment of Participation and Enjoyment (CAPE). Means, standard deviations and percentages were used to characterize the profile of participation, and linear regression analyses were employed to assess associations between the variables (child, family and environmental factors) and the diversity, intensity and enjoyment of participation. Children and adolescents with CP reported low diversity and intensity of participation and high levels of enjoyment. Participation in leisure activities outside of school was determined more by child and environmental factors than by family ones.

Adaptation and validation of the Spanish version of the Leisure Assessment Inventory.

Participation--defined as engagement in life situations, including leisure and recreational activities--is associated with the improvement of people with disabilities' quality of life. Several specific instruments assess leisure, but none of them has been adapted to the Spanish context. The goal of this study is to adapt and validate the Spanish version of the Leisure Assessment Inventory (LAI; B. A. Hawkins, P. Ardovino, N. B. Rogers, A. Foose, & N. Olsen, 2002 ). The adaptation of the original version of the LAI was carried out through translation and backward translation, and the validity of the instrument was analyzed. Descriptive analyses (means and standard deviations) were conducted for each LAI index. Construct validity was assessed through Pearson's product-moment correlation among the diverse LAI indexes, and convergent-discriminant validity through the correlation of the diverse indexes and the measures of quality of life. Results show that the LAI indexes are valid measures of the attributes of leisure behavior (participation, preference, interest, and barriers). This study provides a valid instrument to assess the participation profile of adults with disabilities in leisure activities.