Assessment of the quality of life in patients with LGMD. The case of transportinopathy.

The Quality of Life (QOL) is influenced by several disease-related factors, support, resources, expectations, and aspirations, within the disease-related concepts. The Individualized Neuromuscular Quality of Life (INQoL) is a validated muscle disease-specific measure of the QoL developed from the experiences of patients with muscle disease and can be used for people or large cohorts. This review of QoL in transportinopathy cases reports adjustments in an autosomal dominant (AD) LGMD, and a comparison is made with autosomal recessive (AR) LGMD evaluated by INQoL. The locus for this form of LGMD with AD inheritance was found on chromosome 7, and then identification of the gene and its encoded protein (transportin-3) was obtained in 2013. A large three-generation family with several branches in Spain and Italy was previously reported and described in detail. Some patients had an early onset weakness, but others had an adult onset of the disease, as late as 58 years. The severity of the appearance of the phenotype is correlated with QoL and progresses with age. Assessing the impact on their QoL is particularly relevant to know whether the treatment is reducing their suffering.

Effects of a neuropsychosocial teleassistance intervention on social cognition and health-related quality of life of pediatric patients with neuromuscular diseases.

OBJECTIVE: This study aimed to determine the effects of a neuropsychosocial teleassistance group-based intervention on improving social cognitive functioning and health-related quality of life (HRQoL) in pediatric neuromuscular diseases (NMD). METHODS: Thirty-five pediatric patients with NMD were assigned to the neuropsychosocial intervention program (n = 20) or waiting list control condition (n = 15). The intervention group received an integrative approach that combines training in social cognition with cognitive behavioral therapy. All participants completed a neuropsychological and clinical assessment at baseline and follow-up, which included tests of social cognition, both for emotion recognition and theory of mind, and HRQoL. Repeated-measures multivariate analysis of covariance was used to determine the effects of the teleassistance program. RESULTS: Group × Time interactions revealed significant improvements in the intervention group as compared with the control group for different social cognition's indicators (AR NEPSY-II: p = .003, η2p = .24; TM NEPSY: p < .001, η2p = .35; Verbal task: p < .001, η2p = .35; Happé's Strange Stories: p = .049, η2p = .11) and HRQoL (Psychosocial health: p = .012, η2p = .18; Emotional functioning: p = .037, η2p = 0.13; Social functioning: p = .006, η2p = .21; Total: p = .013, η2p = .17), showing medium to large effects. CONCLUSIONS: Patients receiving the neuropsychosocial intervention showed improvements in their social cognition performance and psychosocial HRQoL, providing evidence about the positive effects of the program in pediatric patients with NMD. This should be considered in further research and interventions in this field.

Songwriting Group Music Therapy to promote psychological adjustment in informal caregivers of elderly people with dependency: a mixed methods study.

Introduction: Informal caregivers of elderly people with dependency (EPD) provide intensive care that can affect their quality of life (QoL). Psychosocial interventions such as music therapy are important to work on their self-care. The aim of this study is to analyze, with a mixed method approach, the experience of participating in a Songwriting Group Music Therapy (SGMT) intervention on informal caregivers of EPD. Methods: A total of 11 groups, with a convenience sample of 61 caregivers, received 10 SGMT sessions. Quantitative information related to QoL variables (anxiety, depression, spirituality, burden, and coping) was collected before and after the intervention and at 3 months of follow-up. Regarding qualitative data, an open-ended question about the experience of participating was asked. Results: Significant changes were shown, sustained over time, in trait anxiety and depression and subscales including inner peace, social functioning, and mental health. Three themes were generated from the thematic analysis, including that SGMT participation can enhance personal growth, bring out and enable work on emotions, and promote helpful interpersonal dynamics. Discussion: The findings indicate that SGMT is a useful intervention for informal caregivers of EPD, promoting psychological adjustment, enhanced coping, emotional regulation, and social support. This study reinforces the findings with caregivers of other populations, providing new results and highlighting the benefits of SGMT for caregivers of EPD.

Social cognition in DMD and BMD dystrophinopathies: A cross-sectional preliminary study.

Objective: The dystrophinopathies called Duchenne and Becker muscular dystrophies (DMD/BMD) are rare, progressive, incurable, and life-limiting paediatric-onset neuromuscular diseases. These diseases have long been associated with specific neuropsychological deficits. However, the performance of these patients in the social cognition domain has not been properly investigated. Thus, the main objective of this study was to compare the performance on social cognition between DMD/BMD patients and healthy age-matched boys. Method: This cross-sectional study included 20 DMD/BMD children and adolescents and 20 healthy controls. The protocol included the Social Perception Domain of the NEPSY-II, the Reading the Mind in the Eyes Test - Child and Happé's Strange Stories test. General intelligence was controlled to eliminate the possible influence of covariables. All the assessments were performed remotely. Results: Most social cognition tasks were worse in patients with DMD/BMD than in matched healthy controls. These differences remained even after controlling for the general intelligence variable, with the exception of Total Disgust Errors (F = 1.462, p = .234, η2p= .038) and Verbal task (F = 1.820, p = .185, η2p= .047) scores from the NEPSY-II. Conclusions: This is the first study to demonstrate that the neuropsychological domain of social cognition is impaired in DMD/BMD patients, independent of the level of general intelligence. Screening assessments in DMD/BMD patients should be promoted to allow social cognition difficulties to be detected at an early stage to enhance patients' quality of life and social development.

Health-related quality of life (HRQoL) and psychological impact of the COVID-19 pandemic on patients with myasthenia gravis.

The aim of this study was to compare the effects of the pandemic on health-related quality of life (HRQoL), anxious-depressive symptoms, feelings of loneliness, and fear of COVID-19 between people with myasthenia gravis (MG) and healthy controls. We also wanted to know in which group the variable fear of COVID-19 interfered the most with the results. This cross-sectional study involved 60 people with MG and 60 healthy controls. Participants using an online platform completed a sociodemographic questionnaire, the Short Form-36 Health Survey (SF-36), the Hospital Anxiety and Depression Scale (HADS), the revised UCLA Loneliness Scale and the Fear of COVID19 Scale (FCV- 19S). The MG group reported worse levels in HRQoL indicators (p = 0.043- <.001), more severe anxiety-depressive symptoms (p = 0.002), and greater fear of COVID-19 (p < 0.001), but there were no differences in feelings of loneliness (p = 0.002). Furthermore, after controlling for the effect of the fear of COVID-19 variable, the differences remained for physical health indicators, but not for the most of psychosocial indicators (Social Functioning p = 0.102, η2p = 0.023; Role Emotional p = 0.250, η2p = 0.011; and HADS Total p = 0.161, η2p = 0.017). The harmful effect of the COVID-19 pandemic was greater in the MG group, and the perceived fear of COVID-19 had also a greater impact among this group, which has increased its negative effect on their psychosocial health.

Difficulties in social cognitive functioning among pediatric patients with muscular dystrophies.

Introduction: Pediatric muscular dystrophies (MDs) are a heterogeneous group of rare neuromuscular diseases characterized by progressive muscle degeneration. A neuropsychosocial approach is crucial for these patients due to associated cognitive, behavioral, and psychiatric comorbidities; however, the social cognitive domain has not been adequately addressed. Methods: This study aimed to analyze on social cognition performance in a pediatric MD patient cohort. This cross-sectional study included 32 pediatric patients with MD and 32 matched-healthy controls. The Social Perception Domain of the NEPSY-II, the Reading the Mind in the Eyes Test-Child and Happé's Strange Stories Test were administered. General intelligence and behavioral and emotional symptoms were controlled for to eliminate covariables' possible influence. The assessments were performed remotely. Results: Children with MDs performed significantly worse on most of the social cognition tasks. The differences found between the groups could be explained by the level of general intelligence for some aspects more related to theory of mind (ToM) (TM NEPSY-II: F = 1.703, p = .197; Verbal task: F = 2.411, p = .125; RMET-C: F = 2.899, p = .094), but not for emotion recognition. Furthermore, these differences were also independent of behavioral and emotional symptoms. Discussion: In conclusion, social cognition is apparently impaired in pediatric patients with MD, both for emotion recognition and ToM. Screening assessment in social cognition should be considered to promote early interventions aimed at improving these patient's quality of life.

The Role of Associations in Reducing the Emotional and Financial Impact on Parents Caring for Children with Duchenne Muscular Dystrophy: A Cross-Cultural Study.

Caregivers' emotions and finances are affected by the deterioration of functional capacity of patients with Duchenne muscular dystrophy (DMD), both in Mexico and Spain. Patient associations may reduce this impact on caregivers. This study aims to study the role of two models of associations, inspired by two different cultural models, in how the services they provide can help decrease the emotional and financial impact on the caregivers of children with DMD. The sample consisted of 34 caregivers from Mexico and 40 from Spain recruited from Spanish hospitals and rare disease organizations in Spain and Mexico. The instruments used consisted of a sociodemographic and socioeconomic questionnaire, the CarerQol-7D, the PHQ-15, the Zarit Caregiver's Burden Scale and the SWLS. The results showed that caregivers in Mexico are in better physical and psychological health than caregivers in Spain. They also receive more subsidies than those in Spain. Caregivers in Mexico have a greater well-being and are less affected by the economic impact of the disease due to the associations' day-to-day work and the fact that they generate a network of health services that they make available to the patient free of charge. These differences may also be attributable to cultural issues and to the fact that Mexico has a deeply established culture of support.

Neuropsychological Profile of Hereditary Ataxias: Study of 38 Patients.

Hereditary ataxias are a heterogeneous group of disorders characterized by degeneration of the cerebellum and its connections. It is known that patients with ataxia can manifest a broad spectrum of motor symptoms; however, current research has emphasized the relevance of cognitive disturbances. The aim of this study is to analyze the presence of cognitive impairment in a heterogeneous cohort of patients with hereditary ataxia (HA). A group of 38 patients with HA of different etiologies and a matched group of 38 healthy controls were recruited and evaluated through a comprehensive battery of neuropsychological tests. The findings show a worse performance in ataxic patients on planning, visuospatial skills, naming, and Theory of Mind tasks, regardless their physical and psychological symptomatology. The influence of clinical status as well as functional ability-related variables on their performance were analyzed, showing that the level of disability and motor disturbances have a significant effect on verbal memory, verbal fluency, and working memory. These findings suggest that patients with HA can manifest cognitive and neuropsychiatric symptoms as part of their clinical features, which demands its inclusion for the diagnosis and management of the disease.

Diseases Costs and Impact of the Caring Role on Informal Carers of Children with Neuromuscular Disease.

This study aims to evaluate the costs of informal care for children with neuromuscular disease and evaluate how physical and psychological health is associated with socio-demographic variables. A cross sectional design was used with a convenience sample of 110 carers that participated in this study. Participants were recruited from Spanish hospitals and rare diseases organizations. Economic costs and sociodemographic aspects were assessed using the economic costs questionnaire and the sociodemographic questionnaire. Physical and psychological health was evaluated using the CarerQol-7D, PHQ-15, Barthel Index, Zarit Overload Scale and Satisfaction with Life Scale. Carers of children with neuromuscular disease spent a large percentage of their annual income in physical therapy, psychological care and speech therapy. Informal costs differed according to the degree of dependency of the child. These were higher in those caregivers whose child under their care presented low functional independence. The loss of work productivity was related to marital status, use of professional services and the child's dependency. Finally, carers who were female, single or separated and without a job showed worse physical and psychological health. The results highlighted that carers have to face a number of high costs because of the non-existence of social protection and due to the child's diagnosis.

Effects of Teleassistance on the Quality of Life of People With Rare Neuromuscular Diseases According to Their Degree of Disability.

Rare neuromuscular diseases (RNMDs) are a group of pathologies characterized by a progressive loss of muscular strength, atrophy, fatigue, and other muscle-related symptoms, which affect quality of life (QoL) levels. The low prevalence, high geographical dispersion and disability of these individuals involve difficulties in accessing health and social care services. Teleassistance is presented as a useful tool to perform psychosocial interventions in these situations. The main aim of this research is to assess the effects of a teleassistance psychosocial program on the QoL levels of people with RNMDs who have different levels of disability. A sample of 73 participants was divided into an experimental group (n = 40), which participated in the intervention, and a control wait list group (n = 33). QoL was evaluated through the SIP and the SF-36, and disability through the WHO-DAS II. The participants with a moderate to severe level of disability were those who most benefited from the intervention. The results also revealed that the psychosocial teleassistance program was suitable to improve physical and psychosocial aspects of people suffering from a rare neuromuscular disease with a moderate level of disability, but just psychosocial aspects in those with a severe level of disability.

Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers.

BACKGROUND: Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring lifelong care. The psychosocial status of the family caregivers of children diagnosed with WHS is unknown. This study aims to characterize the sociodemographic and psychosocial profile of WHS caregivers and analyze how these variables impact their quality of life (QoL) and well-being. RESULTS: The sociodemographic and clinical profile of 22 Spanish caregivers of children with WHS and the characteristics of those affected have been described. Significant relationships were found between sociodemographic and psychosocial characteristics among caregivers. The impact on the parents' QoL and negative relationship with the symptomatology were assessed. The use of engagement strategies such as problem focused coping was associated with improved psychological QoL and social support. CONCLUSIONS: WHS caregivers share similarities in their profile and needs with caregivers of children with other rare diseases. Pychosocial support groups involving parents caring for children with the same disease could improve caregivers' well-being and QoL by strengthening their social support network and using positive coping styles.

Intrusion errors during verbal fluency task in amyotrophic lateral sclerosis.

BACKGROUND: Numerous studies have noted the presence of a dysexecutive component of the ALS-FTD. The most widely replicated result refers to the significantly reduced verbal fluency of ALS patients when compared to healthy people. As ALS patients have motor alterations that interfere with production, qualitative studies have the advantage of being independent of the degree of motor disability and revealing patients' cognitive state. This study examined the production differences between 42 ALS patients who presented with different degrees of dementia and motor impairment and 42 healthy people. Production processes were studied by extending the administration time of a letter fluency task to 2 minutes for the phonemic verbal fluency (PVF) and semantic verbal fluency (SVF) categories. This ensured that the qualitative aspects of verbal fluency were addressed, paying special attention to the new perseverations and intrusions, as well as any clinical correlates that may exist. RESULTS: The ALS patients produced a significantly lower number of responses in PVF (p = .017) and SVF (p = .008). The rest of the indicators for frontal lobe alteration also suggested the existence of a dysfunction. The most remarkable results were the number of intrusions on the PVF task, which was much higher in the ALS group (p = .002). However, the number of perseverations did not differ significantly. CONCLUSIONS: This study highlights the value of intrusions in addressing cognitive deterioration in ALS patients. This deterioration seems to be independent of the degree of motor impairment and of behavioural alterations. Therefore, the value of the intromissions on the verbal fluency task was highlighted as an indicator of a new cognitive alteration, which can be easily evaluated, even retrospectively.

Using a Virtual Serious Game (Deusto-e-motion1.0) to Assess the Theory of Mind in Primary School Children: Observational Descriptive Study.

BACKGROUND: Given the interactive media characteristics and intrinsically motivating appeal, virtual serious games are often praised for their potential for assessment and treatment. OBJECTIVE: This study aims to validate and develop normative data for a virtual serious game (Deusto-e-motion1.0) for the evaluation of emotional facial expression recognition and social skills, both of which are components of the theory of mind. METHODS: A total of 1236 children took part in the study. The children were classified by age (8-12 years old), gender (males=639, females=597), and educational level (between the third and sixth years of Primary Education). A total of 10 schools from the Basque Country and 20 trained evaluators participated in this study. RESULTS: Differences were found in Deusto-e-motion1.0 scores between groups of children depending on age and gender. Moreover, there was a moderately significant correlation between the emotional recognition scores of Deusto-e-motion1.0 and those of the Feel facial recognition test. CONCLUSIONS: Deusto-e-motion1.0 shows concurrent validity with instruments that assess emotional recognition. Results support the adequacy of Deusto-e-motion1.0 in assessing components of the theory of mind in children.

An instrument to measure perceptions of people with disabilities regarding the application of international vocational rehabilitation standards.

This study aimed to create a valid and reliable instrument to measure people with disabilities' perceptions regarding the extent of application of international standards issued by the Council of Europe, International Labour Organization, and the International Classification of Functioning, Disability and Health in vocational rehabilitation centers in the Basque country, Spain. The instrument items were selected from international recommendations and conventions issued by the International Labour Organization, Council of Europe, International Classification of Functioning, Disability and Health, and a vocational rehabilitation literature review. The instrument was translated from English to Spanish, and the content validity index of an expert panel survey was used to assess content validity. For the Spanish version of the instrument, internal consistency reliability, confirmatory factor analysis and factor analysis were examined with 186 people with disabilities in 10 vocational rehabilitation centers in the Basque country. The coefficient alpha estimate was 0.945, indicating excellent internal consistency. Three factors were identified: job-related services, aims of vocational rehabilitation center, and vocational rehabilitation guidance. The instrument appears to have good validity and reliability but requires further validation. Support is provided for its use in both English and Spanish. Implications for vocational rehabilitation practice and suggestions for future research are provided.

Chiari Type I Malformation Associated With Verbal Fluency Impairment.

Purpose: Chiari malformation (CM) Type I is a rare disorder that implies an anomaly in the craniocervical junction, where one or both cerebellar tonsils are displaced below the foramen magnum into the cervical spinal channel. Research carried out regarding cognitive symptoms such as verbal fluency is scarce. The aim of this study was to investigate whether verbal fluency is impaired in a CM clinical group compared to a group of healthy control individuals while controlling for depression and anxiety symptomatology. Method: For this purpose, 101 individuals were enrolled to take part in the study (51 CM, 50 healthy controls). The Controlled Oral Word Association Test (Benton, de Hamsher, & Sivan, 1983) and the Hospital Anxiety and Depression Scale (Zigmond & Snaith, 1983) were administered. Results: Results showed significantly lower scores for the CM group in verbal fluency compared to the control group (p < .005). After performing an analysis of covariance to eliminate depression and anxiety symptomatology tendencies, it was observed that verbal fluency could not be predicted by this variable (p > .005). Conclusions: From the results of this study, it can be concluded that people suffering from CM exhibit less verbal fluency than healthy control individuals and that this difference is not caused by depression or anxiety.